1. A patent ductus arteriosus (PDA) is usually closes within 10-15 hours of birth and almost always by 2 days of life. If something appears cardiac around this time and the infant looks poor, give prostaglandin to open the PDA.
2. Cyanotic heart defects can be either ductal-dependent or ductal-independent. Ductal-dependent defects require an open PDA to allow blood flow to the lungs.
3. Common cardiac surgeries performed in infants include the Norwood procedure for hypoplastic left heart syndrome and staged repairs like the Glenn procedure and Fontan.
1. A patent ductus arteriosus (PDA) is usually closes within 10-15 hours of birth and almost always by 2 days of life. If something appears cardiac around this time and the infant looks poor, give prostaglandin to open the PDA.
2. Cyanotic heart defects can be either ductal-dependent or ductal-independent. Ductal-dependent defects require an open PDA to allow blood flow to the lungs.
3. Common cardiac surgeries performed in infants include the Norwood procedure for hypoplastic left heart syndrome and staged repairs like the Glenn procedure and Fontan.
1. A patent ductus arteriosus (PDA) is usually closes within 10-15 hours of birth and almost always by 2 days of life. If something appears cardiac around this time and the infant looks poor, give prostaglandin to open the PDA.
2. Cyanotic heart defects can be either ductal-dependent or ductal-independent. Ductal-dependent defects require an open PDA to allow blood flow to the lungs.
3. Common cardiac surgeries performed in infants include the Norwood procedure for hypoplastic left heart syndrome and staged repairs like the Glenn procedure and Fontan.
Cardiovascular Dermatology Development Endocrinology Fluids Genetics & Other Congenital
Stuf GI /Nutrition G /rinary !ematology In"ectious Disease Neonatology Neurology Oncology Ophthalmology Orthopedics #sych #ulmonology $enal $heumatology %dolescence &iscellaneous Cardiovascular PDA' ductus usually closes (ithin 10-15h and almost always by 2 days o" )irth AV canal endocardial cushion AV se!tal defect' contiguous atrial* ventricular septal de"ect+ , lar"e systolic !ul#onary $ow #ur#ur - %%S& diastolic #ur#ur heard. can have wide s!lit S2 Cyanotic 'eart Defects Note: if somethings happening around 10-15h of life and it looks cardiac, give prostaglandin to open PDA ! %lso do hy!ero(ia test' i" #aO/ on 0112 O/ 3 41* pro)a)ly a mi5ing cardiac lesion 6)ig shunt7 Ductal-inde!endent' 8runcus* 8%#9$* D:transposition o" great arteries 6all mi5 on their o(n7 Ductal de!endent' , For pulmonary )lood ;o(' 8etFallot* critical pulm stenosis* tricuspid atresia* #%:I9S , For systemic )lood ;o(' hypoplastic le"t heart* interrupted aortic arch* critical coarc* critical aortic stenosis* tricuspid atresia (ith transposition o" the great arteries+ Name #hysiology Diagnosis 8reatment )rans!osition of the *reat Arteries Aorta+ !ul#onary artery switched+ <hen #D% closes* t(o parallel circuits "ormed (ithout a/v mi5ing : trou)le= >ess s5 i" 9SD present too+ !ealthy:loo?ing ?id stops "eeding* loo?s dus?y* )reathes "ast* long cap re@ll A 04h 6#D% closes7+ %oud+ sin"le second heart sound+ B,"" on a strin"- on CC$ 6narro( mediastinum' aorta* pulmonary artery superimposed7 Prosta"landin 6open #D%7* then create ASD 6atrial septostomy7 via cath "or palliation. de@nitive surgery in @rst / (?s )etralo"y of .allot 1/0 Pul#onary stenosis 2/0 1verridin" aorta 2/0 VSD 3/0 4V'0 %/( //D00 6DiGeorge7 See boot sha!ed heart 6$9!7* decr+ pulmonary vascularity+ Classically (ith tet s!ells 6sudden incr+ in $:> shunting* cyanosis a"ter activity* child sDuats to compress peripheral vessels / improve pulm )lood ;o(+ Surgery Pul#onary valve Stenosed pulmonary valve E out;o( Cyanosis* e5ercise intolerance+ 5%S& systolic e6ection Valvulo!lasty via cardiac cath+ 1 stenosis obstruction+ #ur#ur that radiates to )ac?. systolic clic?+ ,7*8 4-a(is dev (ith more severe 6$9!7+ %/( "lyco"en stora"e d9s+ Noonan syndro#e )ricus!id atresia No outlet )et(een $%* $9 : need fora#en ovale+ ASD+ VSD "or mi5ing+ >eads to 4V hy!o!lasia+ Cyanosis+ Decreased pulm vasculature on CC$+ 8he only cyanotic heart disease (ith %V' on EFG* e5am* echo 6others have )igger $9=7 Prosta"landin* then surgical correction 6modi@ed G8* then hemiFontan* then Fontan7 ,bstein ano#aly 4e"ur"itant tricus!id valve displaced to(ards botto# of 4 heart 6small $9 results7+ O)structs ventricular out;o( 6large anterior lea;et Cyanosis+ <ide* @5ed split S/* tricuspid regurg )lo(ing murmur A >>SG* e5treme cardiomegaly on CC$ %/( lithiu# during pregnancy* also a/( :P: Prosta"landin* then surgical correction )APV48 )otal ano#alous !ul#onary venous return %nomalous !ul#onary veins enter systemic veins 6o5ygenated )lood shunted )ac? to venous side=7 &ust have ASDP.1 "or mi5ing ;Snow#an- shadow a)ove heart 6outlines o" pulm vv draining to innominate vein & persistent le"t superior vena cava7+ $9 heave* @5ed split S/* cardiomegaly* $9!* cyanosis Sur"ery 6emergent i" o)struction* (ithin 0 mo o" li"e i" not7 'y!o!lastic left heart syndro#e nderdeveloped le"t side o" heart+ Need ASDPDA8 ASD to get O/:rich )lood "rom >% to veins* (here it can go to )ody via PDA Cardio#e"aly+ increased !ul#onary vascularity+ See poor $ (ave progression & $9! on EFG+ Prosta"landin+ Palliation 6Nor(ood* Glenn* Fontan staged repair7 / trans!lant Pul#onary atresia with intact ventric0 se!tu# <PA- =VS/ Pul#onary valve s#all or shut o>* (ith no VSD E no #i(in"? Cyanosis (ithin hours* (orse (ith closure o" #D% Decreased pulmonary vascularity Prosta"landin Sur"ery )runcus Arteriosis Sin"le arterial vessel "rom )ase o" heart gives rise to coronary* systemic* pulmonary arteries* al(ays (ith VSD %/< Di*eor"e+ Nonspeci@c murmur* minimal cyanosis at )irth* )ut C'. in (ee?s 6pulm vasc resistance "alls* lungs suc? up )lood* systemic )lood ;o( "alls7+ loud e6ection clic@+ sin"le S2 (ith )ounding pulses+ Sur"ery 6close 9SD* separate pulmonary arteries* conduit "rom $9 to pulmonary arteries Cardiac sur"eries 2 A Norwood procedure' connect subclavian to !ul#onary artery 6modi@ed )layloc?: taussig shunt7 to get )lood to lungs+ #ro)lem' e5pose lungs to high systemic pressures+ In hypoplastic >+ heart syndrome* the $9 is essentially pumping systemic circulation 6#% to aorta via maintained #D%7* so you need another (ay to get )lood to lungs : hence this procedure+ A &i-directional *lenn <'e#i-.ontan/8 SVC connected to !ul#onary circulation+ >ungs no( getting much lo(er venous pressures 6)etter7 )ut I9C still dumping deo5ygenated )lood into $%:H$9:H#%:H#D%:H%orta 6mi5es=7 A .ontan procedure' connect =VC to !ul#onary circulation 6completing the Fontan7 : no( all deo5ygenated )lood 6S9C and I9C7 goes to lungs* and $9 is providing pump action "or systemic circulation 6li?e the >9 usually does7 &eni"n #ur#urs8 Diastolic E pathologic+ For systolic' &ore li?ely innocent &ore li?ely congenital heart disease &urmur intensity grade / or less* heard at le"t sternal )order Normal S/ No audi)le clic?s Normal pulses No other a)normalities &urmur intensity grade I or higher !arsh Duality #ansystolic duration >oudest at upper le"t sternal )order %)normal S/ %)sent or diminished "emoral pulses Other a)normalities Peri!heral Pul#onary Stenosis 6E pulmonary )ranch stenosis7+ A Classic #ur#ur descri!tion' "rade 1-2B hi"h !itched blowin" #id-systolic e6ection #ur#ur+ best heard C %5S&+ radiatin" to a(illa and throu"h to bac@0 A ,!ide#iolo"y' responsi)le "or maJority o" innocent murmurs in term in"ants 6especially a"ter /Kh* (hen most #D% have closed* and #D% is no longer e5planation7+ A Physiolo"y' 8he murmur may )e due to the relative hypoplasia at )irth o" the )ranch pulmonary arteries compared to the main pulmonary artery 6(hich is large )ecause it "eeds the #D% and systemic circulation in utero7 and their sharp angle o" origin* (hich causes tur)ulence and the murmur+ Disa!!ears by 2-2 #onths of a"e as )ranches gro(+ A Pul#onary .low #ur#ur is a similar murmur* also )enign* heard in older ?ids 6L M to adolescence7 N systolic eJection murmur )est heard at >SG* "rom tur)ulence o" ;o( (here main pulmonary artery connects to $ ventricle 6across pulmonary valve7+ StillDs Eur#ur 6E vi)ratory murmur7' A Classic #ur#ur descri!tion' low !itched+ vibratory+ #usical <;stru##ed bass Fddle-/+ "rade 1-2B systolic e6ection #ur#urG are usually )est heard )et(een the %%S& and a!e(0 8hey typically decrease in intensity or resolve with a Valsalva #aneuver* (hich can )e induced in in"ants )y gentle pressure on the a)domen+ StillOs murmurs tend to vary with heart rate+ )ecoming more evident as the heart rate slo(s+ ,!ide#iolo"y' can present in in"ancy. also o"ten )et(een I:M years old+ 3 Physiolo"y' Some(hat controversial. some thing itPs "rom vi)ration o" &9 or chordae. others thin? itPs Just "rom high:tur)ulence eJection "rom >9+ Venous 'u# ' beni"nG continuous soft hu##in" #ur#ur heard C nec@+ ri"ht u!!er chest0 , !eard in I:M y/olds mostly+ From tur)ulent ;o( in Jugular venous / S9C systems+ Disappears (hen supine Carotid &ruit 6I:Q yrs7' systolic e6ection #ur#ur )est heard at nec@ , tur)ulence (here )rachiocephalic vessels attach to the aorta Possibly Patholo"ic Eur#urs8 VSD8 Classic #ur#ur descri!tion8 /:I/M lo(:pitched harsh holosystolic murmur )est A > mid: to:lo(er sterna )order 6small 9SD7+ I" su)pulmonic* )est A >SG+ I" spontaneously closing* holosystolic murmur shortens 6early systole only* then disappears7+ ,!ide#iolo"y' /12 o" all children (ith C!D have an isolated 9SD+ Physiolo"y' &em)ranous* su)pulmonic* %9 canal* muscular de"ect+ In utero* $L> sided systolic pressures. mostly insigni@cant+ > to $ shunt a"ter pulmonary resistance "alls* ductus arteriosis closes+ O"ten present as murmur at K:01 days o" li"e 6#9$ needs to "all enough to create gradient7 Severity depends on siRe+ Small E small > to $ shunt* no change in $ sided pressures+ &oderate E resistance to pressure* not to ;o( 6no $ side pressure increase* )ut more ;o( E can overload > atrium* > ventricle )y increasing return7+ >arge essentially creates a single pumping cham)er (ith t(o outlets. again can overload )y increasing return into > heart. can S #9$ as (ell ::H eisen#en"er syndro#e (hen #9$ H S9$ 6$::H>7 :hat to doH <or?up' EFG 6loo? "or >9!* > atrial enlargement7 -/: CC$ 6can sho( increased vascular enlargement* cham)er enlargement7 N )oth only (ith @ndings in moderate/large 9SD+ &oderate to large 9SDs p/( heart "ailure )y I:K (?s age+ $e"er to cardiology+ 412 can )e managed medically 6diuretics* %CEi* digo5in7* 412 (ill need surgery+ Small 9SDs usually remain asymptomatic+ Q42 (ill close (ithin @rst t(o (ee?s o" li"e+ Schedule appt at I:K (?s 6(hen they (ould Bdeclare themselvesT7 & educate a)out signs+ I" still asymptomatic at I:K (? chec?up* peds cards "ollo(up at U:01 (ee?s* then at 0/ months i" still gro(ing (ell+ ASD' .i(ed s!littin" of S2 6(ide on )oth inspiration and e5piration70 A No #ur#ur fro# $ow 6atrial ;o( doesnPt have high enough gradient7+ A Can have pulmonic systolic eJection murmur "rom increased $9 volume+ A No good evidence to close a small %SD / #FO N despite theoretical ris? parado5ical em)olism+ Close large hemodynamically unsta)le ones+ &aJority o" small 63Mmm7 isolated secundum de"ects close )y / yrs+ PDA8 continuous+ #achine-li@e #ur#ur+ I/M or less* )est heard in % infraclavicular region+ Continuous )ecause aortic pressure is higher than pulmonary pressure throughout diastole and systole. ma5 intensity around S/+ No chan"e with !osition0 &oderate / large can 4 )e symptomatic 6e5ercise intolerance7. even lead to $> shunt & eisen#en"erDs syndrome+ Consult peds cards. generally close even small audi)le #D%s 6even those have ris? endocarditis7 (ith indomethacin. controversial a)out silent #D%s+ Coarctation of the aorta' thin? 8urnerPs syndrome. ductal dependent. start !rosta"landins* see diferential blood !ressures I !ulses* may reDuire surgery Aortic stenosis' in ?ids* o"ten a/( bicus!id aortic valve (hich )ecomes stenotic+ harsh systolic e6ection #ur#ur )est heard A 45S& (ith e6ection clic@ preceding it. may have thrill* may radiate to carotids+ %V' on EFG+ I" critical* may )e ductal dependent : !rosta"landin indicated+ Other(ise* try balloon valvulo!lasty Pul#onic stenosis' i" critical* may force fora#en ovale o!en ::H $ to > shunt+ e6ection clic@+ then harsh systolic e6ection #ur#ur A %5S& -/: thirll* $9 heave. enlarged #% on CC$* 4V' on ,7*+ &ay need prostaglandins+ 4heu#atic heart disease' most o"ten acutely causes #itral re"ur"itation* later in li"e may progress to #itral stenosis0 %ortic valve is V/+ 7awasa@i disease' can cause !ericarditis+ #yocarditis+ coronary arteritis+ )ut coronary aneurys#s are the most (orriesome thing 6most in subacute !hase+ days 00:/4* regress in most patients* less ris@ i" as!irin used7+ 8hen use low dose as!irin until the aneuryisms resolve+ ,ndocarditis' .ever I new #ur#ur* may have nonspeci@c chest pain+ stro@es+ he#aturia are the more common em)olic phenomena in ?ids 6$oth spots* splinter hemorrhages* petechiae* Osler nodes* Wane(ay lesions less common in peds7 &ost commonly stre! viridans <al!ha-he#olytic stre!/ I sta!h aureus+ I" a complication o" cardiac surgery* also consider fun"i+ sta!h e!i+ *N4s more li?ely i" neonate+ i##unoco#!ro#ised+ =VD5 Ab( !!( )e"ore dental !rocedures i"' !rostetic valve+ !revious endocarditis+ C'D thatPs unrepaired / have palliative shunt / conduit / prosthetic material* or heart trans!lant !ts (ith cardiac valvular disease onl"= C$#* ES$* <GC elevated+ Get an echo to loo? at valves+ Give B wee@s =V ab( directed therapy+ Eyocarditis' mostly co(sac@ie &* alsocCo5sac?ie A* adenovirus+ echovirus+ .ever+ dys!nea+ fati"ue+ chest !ain 6"rom secondary pericarditis7+ loo?s li?e C'. 6cardiomegaly* edema* pulmonary edema / dyspnea* pallor* tachypnea / tachycardia7 ,7*8 low volta"e+ S) de!ression+ )-wave inversion+ Echo' dilated ventricles* poorly "unctioning 6de!ressed C17 PC4 "or viruses* may need )iopsy+ Dilated cardio#yo!athy ' in ?ids* "rom recent #yocarditis 6BidiopathicT7* neuro#uscular d9 6D&D7* or dru" to(icity 6e+g+ anthracyclines7* or can )e "amilial Signs / s5 ' C'.* !ul#onary ede#a+ 5 )reat li@e C'.8 diuretics+ $uid restriction+ vasodilators I inotro!es 'y!ertro!hic cardio#yo!athy' %ut dom (ith incomplete penetrance+ can present as sudden death in youn" athlete stereotypically+ A thic@ened ventricular se!tu# ::H %V out$ow tract obstruction+ >eads to systolic e6ection #ur#ur A %%S& a!e( (ith so"t holosystolic mitral regurg murmur* may have >9 heave / thrill+ Eur#ur "ets softer with sJuattin"+ layin" down & louder (ith strain Valsalva+ standin" u! 6more )lood in >9 means less o)struction7 : the opposite o" aortic stenosis A ,7*' see %V'+ left-a(is dev* may see signs o" strain / ischemia+ ,cho is diagnostic+ A 85' Ca-channel bloc@ers+ beta-bloc@ers+ Avoid co#!etitive s!orts 6K:M2 mortality per year7+ Arrhyth#ias &radyarrhyth#ias' , Sinus bradycardia8 o"ten normal in young healthy athletic ?ids+ KB0 in older children* K100 in neonates , .irst de"ree heart bloc@ ' P4 L 200#s0 X %/( increased va"al tone+ #eds 6digo5in* )eta:)loc?ers7* in"ections 6viral #yocarditis+ %y#e/* hypothermia* electrolyte pro)lems* C!D* rheumatic "ever+ , Second de"ree heart bloc@' X Eobit9 = :enchebach8 Pro"ressive P4 !rolon"ation* then Y$S dropped+ Same etiologies as 0st degree heart )loc?+ >ess serious+ X Eobit9 ==' a)rupt "ailure o" %9 conduction : sudden dro!!ed M4S a"ter normal #+ Eore serious than &o)itR I or 0st degree heart )loc? 6can progress to total heart )loc?7+ X .i(ed ratio' /'0* I'0* etc+ )loc?s+ From %9 node or !is inJury+ &ay progress to total heart )loc? , )hird de"ree heart bloc@' )otal A-V dissociation+ X Can )e 6unctional esca!e 6normal Y$S interval7* or ventricular esca!e 6slo(er* (ide Y$S7+ X %/( open heart surgery* congenital heart mal"ormations* >yme disease* cardiomyopathy+ , DonPt need to treat 0st degree or &o)itR 0+ For others* may need !ro!hylactic !ace#a@er deFb+ )achyarrhyth#ias' 4ate L 250' thin? tachycardia* even in the little ones+ Classically* narrow-co#!le( are well toleratedG wide-co#!le( can )e an emergency+ , narrow' thin? S98s* :P:+ AVN4)+ A-$utter+ A-Fb , For reentrant tachycardias' va"al nerve sti# 6carotid massage* ice* strain7 then =V adenosine , wide' V-tach V-Fb0 Emergency time= X I" hemodynamically sta)le* can try a#iodarone or !rocaina#ide 6not together7 & consult cards X I" unsta)le* P,A al"orith#' i" pulseless* non-synchroni9ed cardioversion A 2N@"* CP4* AC%S+ 6 :olf-Par@inson-:hite' see delta wave resting* representing accessory path(ay Con"enital lon" M)8 thin? channelopathies+ can lead to )dP 6give E" to treat=7 , Nervell-%an"e-Nielsen' long Y8 - sensorineural hearin" loss , 4o#ano-:ard8 no sensorneural hearing loss 6strictly cardiac. (orse7 'y!ertension in @ids' more li?ely secondary than ?ids* although !ri#ary essential is increasing+ chec? "or !heo+ renal artery stenosis* neuroblasto#a* etc+ , Need 2( elevation L O5P adJusted "or age* se5* height+ , ma?e sure cuf covers Q42 o" upper lim)* right cuf side* ta?e multiple e5tremities i" indicated , Phar# thera!y X youn"er @ids' diuretics* )eta )loc?ers* ca channel )loc?ers X older @ids' can use %$G / %CEi in adolescents* adults7 X hy!ertensive crisis' su)lingual ni"edipine* I9 nicardipine* I9 nitroprusside* la)etalol+ Can use hydrala9ine in neonates+ &onitor closely & avoid sudden drops 6cere)ral per"usion autoregulated to higher pressures. can stro?e out7+ Der#atolo"y Ato!ic der#atitis <ec9e#a/ : , =nfants 6)irth:/7 : present Z Imo (ith dry+ red+ scalin" chee@s 6e+g+ (inter time7* may )e e5udative* #ithout perioral* paranasal involvement* s!arin" dia!er area+ very !ruritic & inter"ering (ith sleep , Childhood' in;ammation in $e(ural areas. perspiration ::H itching/)urning ::H scratching ::H irritation ::H etc+ See !a!ules that coalesce into !laJues. can see licheni@cation (ith itching+ , 1lder @ids adults' pruritic* recurrent* $e(ural+ onset again around pu)erty* hand dermatitis / perior)ital / anogenital+ , $uns (ith other atopic disorders 6allergic rhinitis* asthma7+ , <atch out "or bacterial su!erinfection+ di>use cutaneous 'SV 6punched:out red um)ilicated vesicles7 , D5' la) studies not great. serum IgE may )e help"ul+ , 85' e#ollients+ anti!ruritics <to!ical corticosteroids or antihista#iens7* to control in;ammation* avoid drying soaps* use lubricants 6e+g+ eucerin* vasaline7 a"ter )athing+ %void topical $uorinated corticosteriods on face+ "enetalia+ intertri"inous area 6can depigment / thin the s?in7 X 8acrolimus* pimecrolimus' nonsteroidal immunomodulators "or more re"ractory cases :is@ott-Aldrich' C:lin?ed recessive* recurrent infections+ thro#bocyto!enia+ ec9e#a Psoriasis' erythe#atous !a!ules that coalesce ::H dry !laJues (ith shar! borders and silvery scale A $emoving scale ::H pinpoint )leeding 6Aus!it9 si"n7+ Can see sti!!lin"+ !ittin"+ 7 onycholysis o" nails A Childhood' scal!+ !eriocular+ "enital areas. also @nees+ elbows A 85' to!ical steroids. i" severe* may need methotre5ate / 8NF:alpha inhi)itors Seborrheic der#atitis , =nfants8 Bcradle ca!0- Greasy )ro(n scales. starts on scalp in @rst "e( months o" li"e+ X can involve ears+ nose+ eyebrows+ eyelids 6vs ecRema7 X 8reat (ith @etocona9ole-containin" sha#!oo or lo(/med potency topical corticosteroids Pityriasis rosea' herald patch* then sal#on-colored lesions in christ#as tree distribution , n?no(n cause+ 85 (ith topical antipruritics* creams* antihistamines* [phototherapy ,rythe#a to(icu#' )enign* sel" limited* 412 newborns* un?no(n etiology. eosinophil in ;uid A Qellow-white 1-2## lesion (ith surroundin" erythe#a. rash wa(eswane over days/(?s o" li"e Sal#on !atch R nevus si#!le(' ;at vascular lesions on na!e of nec@+ eyebrows. #ore !ro#inent w cryin" A Genign* sel":limited* "ade (ith time i" on "ace %ar"e vascular ano#alies 6e+g+ ?aposi"orm hemangioendthelioma* tu"ted angioma7 can e5hi)it the 7asabach-Eerritt !heno#enon : )asically seJuester !latelets+ 4&Cs & get !eri!heral thro#bocyto!enia+ coa"ulo!athy+ #icroan"io!athic he#olytic ane#ia+ , can treat (ith corticosteroids* vincristine+ Can lead to e(cessive bleedin" during sur"ery Pustular #elanosis' )enign* sel":limited* neonatal rash* )lac?s H (hites* "ound at birth , Pustules that rupture (ithin days and are then hy!er!i"#ented "or (ee?s. eventually resolve Sebaceous nevi' small+ shar!ly-ed"ed* head/nec? o" infantsG yellow-oran"e in color* elevated* hairless Eilia' @ne* yello(:(hite 0:/mm lesions scattered over "ace* gingiva o" neonates. cyst (/ ?eratiniRed stuf inside , $esolve spontaneously+ Called ,!steinDs !earls on palate Pa!ular acroder#atitis of childhood <*iannoti-Crosti syndrome7' , %symptomatic erythe#atous !a!ular eru!tion* ?ids 1-B yrs a"ter 54=* EG9* varicella* !G9 , Suymmetrically on face+ e(tensor ar#sle"sbuttoc@s+ s!ares trun@ =nfantile he#an"io#as' o"ten not present at )irth* technically vascular tumros* can )e in any location )ut most commonly head / nec?+ Generally !resent in 1st #onth+ "row for several #onths 1 yr+ then involute slowly 6generally resolved )y 01 years o" age7+ 8 A Can use !ro!ranolol "or severe he#an"io#as to speed involution= Acne' , Comedones' open E )lac?heads 6compacted melanocytes7. closed E (hiteheads 6prurulent de)ris7 , #+ acnes is implicated+ , Categories' in;ammatory 6papules/ pustules/nodules/cysts7 or non:in;ammatory 6Just comedones7 , 8reatment' X start (ith ben9oyl !ero(ide or topical 4etin-A <tretinoin7. o"ten try )enRoyl pero5ide in morning* tretinoin at night 6need to (ash )enRoyl pero5ide of @rst "or tretinoin to (or?7 \ 8retinoin : increases cell turnover* inhi)its microcomedone "ormation X to!ical ab( ne5t 6erythro* clinda7 applied GID. can )e used at same time as )enRoyl pero5ide or tretinoin X syste#ic ab( ne(t 6usually tetracycline : have to ta?e on empty stomach* as mil? products )ind tetracycline. also leads to photosensativity7 X ortho tri-cycline <1CP/ can also )e used+ X isoretinoin <Accutane7 "or severe+ resistent+ nodulocystic acne 6K mo course7 \ )erato"en? get ne"ative !re"nancy test immediately )e"ore started. need efective contraception too+ $emem)er oral ab( can decrease 1CP e>ectiveness* so )e care"ul (ith these patients (ho might )e ta?ing tetracycline too= \ Side efects' chelitis+ con6unictivitis+ hy!erli!ide#ia+ elevated %.)s+ !hotosensitivity* can also get de!ression0 \ 8reatment can )e !rofound I !er#anent? )inea barbae' can )e con"used (ith acne : resem)les tinea capitis+ reJuires syste#ic antifun"als* not topical Neonatal acne' /12 neonates in 0st month o" li"e. cause un?no(n 6hormone trans"er[7* sel": limited )inea ca!itus' &ost commonly )richo!hyton tonsurans 6also #icros!oru# canis "rom animals7 , #atches o" scalin" and hair loss (ith ;blac@ dot si"n- 6)ro?en of hair sha"ts7 , Need oral "riseofulvin 6topical agents not efective* although do use selenium sul@de shampoo as adJunct to ?ill spores7 "or K:M (?s+ )inea cor!orus' Bring (ormT* tinea !edis' "eet* o"ten in moccasin distri)ution* interdigital spaces. tinea cruris' Joc? itch* all most commonly "rom #icros!oru# rubru#+ 8reat (ith to!ical antifun"als 6e+g+ clotri#a9ole/ )inea versicolor' super@cial tan / hypopigmented oval / scaly patches on nec?* upper part o" )ac? /chest* #ost notable when rest of s@in is tan fro# sunli"ht : treat (ith seleniu# sulFde sha#!oo or other antifun"al a"ents0 9 Develo!#ent *ross #otor .ine #otor %an"ua"e Social 1ther 0 mo Start to li"t head "rom e5am ta)le Follo( eyes to #idline only* hands clenched %lerts / startles to sound. starts vocaliRing a )it $egards parentsP "aces Smiles spontaneousl" $esponds to )ell / mo 4aises chest* li"ts head of ta)le i" prone Follo(s o)Ject 1S0 de"rees. holds rattle )rie;y Coos* reciprocal vocaliRation Smiles sociall"* laughs* sDueals* recogniRes parent Sleep through night 6/:I mo7 I mo Follo(s toy "rom side to side & vertically K mo 4ollin" over 'ead control (ith no lag. li"ts onto el)o(s $eaches (ith )oth hands together* )ats at o)Jects* gra)s & retains Orients to voice* laughs* sDueals Initiates social interaction B #o Sitting up. tripoding 6needs support7 $each "or o)Jects $oll over (ell $eaches (ith one hand & can )trans"er hand: hand &abbles $ecogniRes o)Jects* persons as un"amiliar Introduce Juices in cup* not )ottle O #o Sit without su!!ort* crawls+ !ulls to stand ses !incer "ras! & Fn"er feeds Ga))ling still* BnoT understood* nons!eciFc #a#a+ dada* Gesture games 6pat a ca?e7* o(n name* o)Ject permanence* stranger an5iety 0/ mo <al? holding on to "urniture 6cruises/* a "e( independent steps #incer grasp & release 6cheerios7. t(o cu)e to(er Speci@c mama* dada - 0:K other (ords Imitates* comes (hen called* cooperates (ith dressing 04 mo :al@s well independently 8(o cu)e to(er* thro(s )all underhand K:M (ords - Jagon* responds to 0 step command ses cu!* indicates (ants / needs 0U mo 4uns* (al?s up stairs (ith help* stoops / recovers )hree )loc? to(er* uses spoon* scri))les 01:/4 (ords* points to body !arts* communicates needs / (ants #lays near 6not (ith7 other ?ids / yr Stairs unassisted* can @ic@ throw ball overhand* Jumps (ith t(o "eet of ;oor K:M )loc? to(er* "or? / spoon* copies strai"ht line 50 words total 2 (ord sentences 412 speech intelligi)le to stranger $emoves simple clothes* parallel play #otty training 6or (hen child sho(s interest7 I yr )ricycle* broad Copies circle 250T words Fno(s age* 10 6u#!s 2-S (ord sentences Q42 speech intelligi)le gender. group play* shares K yr Stand on each leg "or / seconds Copy sJuare cross+ catches ball .ully understandable language : can tell a story K colors* can de@ne 4 (ords* ?no(s I adJectives Dresses sel"* puts on shoes* (ash / dry hands* i#a"inative !lay 4 yr Stand on each leg "or 4 seconds / s?ips (ith alternating "eet Dra(s person (ith M )ody parts %s?s (hat (ords mean names K colors* plays cooperative games* understands rules M yr $ides )i?e <rites name <ritten letters* num)ers Fno(s right vs le"t* ?no(s all colors %an"ua"e is V0 predictor o" "uture intellectual potential+ Constitutional "rowth delay' F!5 Blate )loomersT* gro(th rate is normal )ut running along lo( 2ile* A bone a"e K chron a"e 6can catch up7+ 8 inJections can BJump startT pu)erty .a#ilial short stature8 short child o" short parents+ gro(th rate is normal )ut running along lo( 2ile* A bone a"e R chron a"e 6no catch:up potential7 *' deFciency ' 0/K? children* slo( gro(th* fall o> of curve* children loo? younger* wt a"e L ht a"e 6chu))y7 , bone a"e K chron a"e 6catch up potential7 , Screen (ith seru# =*.-1 or so#ato#edin C T =*.-&P2* $5 (ith reco#bi *' in6ections until adult ht , Can have functional *' deFciency i" psychosocially deprived : loo? Just li?e primary G! de@ciency ?ids. blunted *' res!onse to G! testing. resolevs (hen removed "rom environment+ 'y!othyroidis#' usual s5* )ut also slow "rowth - see bone a"e K chron a"e 6can catch up7 ,ndocrinolo"y Diabetes Criteria for DE' , Casual glucose H 200 (ith si"ns s( 11 , 1*)) H 200 on / occasions , .&* L 12B on / occasions , 'bA1c L B05P Presentation of DE' Fids mostly symptomatic+ ] in DF%* others (ith polys* other s5+ 9s adults 6screening7 E1DQ' #ono"enetic 6autosomal do#inant7 "amily o" disorders , 8hin? youn" adult+ late teen #ithout o$esit" )ut (/ )2DE-ish !resentation 6)ut no insulin resistance7 , Involve transcription "actors in )eta:cell development* gluco?inase* etc+ )2DE' thin? o" ris@ factors 6o)esity* F!5* H ^:01 years old7+ %an present in D7A in ?ids , =nsulin is an option* )ut o"ten start (ith oral a"ents 6all o" (hich drop %0c )y 0:/27 , Eetfor#in is usually (hatPs used @rst )1DE' patients are youn"er at onset , %nti:islet cell* anti:*AD* anti:insulin* anti:=AU anti)odies X )-cell #ediated process. a) are Just #ar@er of cell destruction , Chec? "or insulin production in 0:/ years to distinguish 6i" still ma?ing insulin* pro)a)ly 8/D&7 , 'oney#oon !hase' still ma?ing insulin+ high )lood glc is to5ic to )eta cells+ <hen you start insulin* decreased glucose increases )eta cell "unction. can stop insulin "or a (hile+ D7A vs ''S , DF%' @etoacidosis (ith elevated gap* ?etones in urine , !!S' lactic acidosis (ith elevated gap* "e( ?etones in urine =nsulin regimens' thin? basalbolus , )DD' 1+U:0+1 /?g/day. i" still ma?ing insulin 1+4:1+M u/?g/day , &asal' usually lantis* Dd+ 50P )DD X Should ?eep you steady overnight : chec? traJectory o" glucose during the night+ , &olus' novolog* humalog* epidra+ 50P )DD X =8C ratio E 350)DD 65 units insulin per g o" car)7 \ Should ?eep you the same )e"ore / a"ter meal : chec? )e"ore/a"ter at a time (hen no correction dose (as given to assess X Correction dose E 1S00 )DD 6give 0 unit insulin per 5 mg/d> glc over target7 \ Should )ring you to your target i" the I'C ratio is correct : once you have the I'C ratio right* then see i" youPre hitting the mar? (ith correction doses+ So#o"yi !heno#enon ' nocturnal hypoglycemic episodes 6night terrors* !/%* early morning s(eating7 then present a "e( hrs later (ith hyperglycemia* ?etonuria* glucosuria 6counter:reg hormones responsi)le7 D7A #ana"e#ent' , .luid resuscitation8 calculate ;uid de@cit* replace over /Kh+ $un lac ringers or I9NS A 12 01m>/?g to start+ , =nsulin dri! A 1+0 /?g/hr. goal to decrease glucose 41:011 mg/hr 6too "ast a drop E cere)ral edema=7 X Add de(trose (hen glucose approaches /41:I11 to prevent hypoglycemia , Eonitor for hy!o@ale#ia "reDuently & replace 6total )ody F is do(n=7 'y!o"lyce#ia' sy#!athetic symptoms 6s(eating* sha?ing* tachycardia* an5iety7 & neuro s5 6!/%* con"usion* irrita)ility* lethargy* coma* etc7 , I" glucose 3 41 mg/d>* get a critical sa#!le 6C&# (ith )icar)* insulin* c:peptide* cortisol* G!* "ree "atty acids* )eta:hydro5y)utyrate* acetoacetate* lactate* ammonia7 to hel! deter#ine etiolo"y later= Diabetes insi!idus' not enough %D!+ From )rain tumors* CNS in"ections* surgical removal o" craniopharyngeoma , #olydypsia+ polyuria. d5 (ith dilute urine 6SG 3 0+101* osm 3 I117 in setting o" hy!ertonicity 6hyperNa7 , sually not a pro)lem unless not ta?ing in enough (ater+ 8reat (ith DDAVP S=AD'' too much %D!+ #sych dR* encephalitis* drugs 6lisinopril* car)amaRepine* 8C%s7 , nor#ovole#ic hy!onatre#ia (ith concentrated urine* normal renal "5n+ Na K 125 R s( , D5 o" e5clusion : r/o hyperglycemia* increased serum lipids+ , manage (ith $uid restriction. acutely can use hy!ertonic saline to raise Na )y 1+4 mED/hr* ma5 0/ mED/hr to avoid central !ontine #yelinolysis Con"enital Adrenal 'y!er!lasia 21 hydro(ylase deFciency' ^12 o" C%! cases* aut rec trait* can )e salt wastin" or virili9in" A Need /0 hydro5ylase to ma?e aldosterone / cortisol. i" not* !recursors bac@ u! & end up (ith andro"ens A Decreased cortisol aldosterone --L increased AC)'+ 1V hydro(y!ro"esterone 13 W Virili9ation (ith low &P+ salt wastin"+ low cortisol - .))* shoc?* dehydration* hypoNa/hyperF W Females' a#bi"uous "enitalia (ith normal ovarian development / internal structures W &ales' no genital a)normalities A <ill need cortisol thera!y and $udrocortisone i" needed "or mineralocorticoid replacement 11 hydro(ylase deFciency' also autosomal recessive , Inhi)its aldosterone* cortisol production again* )ut deo(ycorticosterone precursor has #ineralocorticoid activity : so you get hy!erNa+ hy!o7+ ')N along (ith increased androgen levels Addison disease' primary adrenal insu_ciency+ , Congenital 6adrenal hypoplasia* %C8! unreponsiveness7 or acDuired 6<:F syndrome (ith meningococcus* adrenal hemorrhage7+ autoi##une more common in older @ids adolescents & a/( D& type 0* thyroditis* etc+ , <ea?ness* N/9* (t loss* !/%* salt craving* postural hypotension. can get increased !i"#entation 6melanocyte stimulating hormone ramped up (ith increased %C8!7 : Addisonian tan+ , Adrenal crisis' "ever* vomiting* dehydration* shoc? "rom illness* trauma* surgery : e#er"ency? , See hy!oNa+ hy!er7+ hy!o"lyce#ia+ #ild #et acidosis , 8reat (ith corticosteroids+ stress dose (hen needed+ Need #ineralocorticoids too i" (hole adrenal involved+ Secondary adrenal insuXciency' caused )y %C8! de@ciency 6usually withdrawal of chronic steroid thera!y* more rarely "rom pituitary tumors* etc7+ , S5 li?e primary %I* a)ove. treatment similar )ut donPt need mineralocorticoids i" Just %C8! de@cient+ Cushin"Ds syndro#e , Cushin"Ds disease8 bilateral con"enital adrenal hy!er!lasia "rom !itutiary adeno#a is V0 cause in ?ids 6a"ter e(o"enous corticosteroids* o" course7 , D5' elevated seru# cortisol+ 23h urine free cortisol+ #idni"ht salivary cortisol X i" high* go on to de(a#ethasone su!!ression test 6de5amethasone in late evening (onPt suppress cortisol in morning7+ hi"h dose de(a#ethasone su!!ression' canPt suppress e5ogenous %C8! 6e+g+ SC>C7. much less common in ?ids though+ , 85' re#ove adrenal tu#ors i" present Con"enital hy!othyroidis#'see constipation* !rolon"ed 6aundice+ sluggishness* poor "eeding* apnea* cho?ing* #acro"lossia* e5cessive sleepiness+ , %void delays' initiate oral levothyro(ine0 , lo( F8K* high 8S!+ ^12 in S have thyroid dysgenesis+ Screened as neonates+ Pseudohy!o!arathyroidis# 6Albri"ht hereditary osteodystro!hy7 : #8!:resistant at 14 receptor level , Chemical @ndings o" hypoparathyroidism <low Ca+ hi"h !hos/ )ut hi"h P)' , Short stature (ith delayed )one age* E4+ increased )one density esp in s?ull* brachydactyly of 3th and 5th di"its+ obesity (ith round "aces* short nec?* subca!sular cataracts+ cutaneous and su)Y calci@cations* !erivascular calciFcations o" the basal "an"lia+6theyPre #8!:resistant at receptor level7 .luids E=V.8 $emem)er8 1005025 m>/?g/day* or 321 m>/hr 6"or @rst 01?g/ second 01 / rest o" ?g7 , Short:cut' i" over 20 @"* needs wt in @" T 30 m>/hr , se D4< ] or ` NS - /1 mED FCl 6] "or younger ?ids* ` "or older. add F i" needed7 Dehydration8 4e!lacin" losses' calculate de@cit "rom a)ove+ $eplace half over Frst S hours+ rest over ne(t 1Bh , I" they got a )olus already* su)tract that "rom the @rst hal"+ I" unsta)le* give 20 cc@" boluses until theyPre not unsta)le anymore+ , E5ample' /1?g ?id (ho is 012 dehydrated 6moderate7 and got a /1 m>/?g )olus in the ED X De@cit E /?g E /*111 m>+ <ant to replace 0*111 in @rst U hours* 0*111 in ne5t 0M hours X &I9F "or him is M1 m>/hr X First U hrs' 0*111 : K11 cc )olus already given E M11 over U hrs E Q4 cc/hr+ %dd in &I9F' give Q4cc/hr - M1 cc/hr E 0I4 cc/hr X Ne5t 0M hrs' 0*111 cc / 0M hr E M/+4 cc/hr+ %dd in &I9F' give M/+4cc/hr - M1cc/hr E 0//+4 cc/hr 'y!er@ale#ia' i" F H 4+U+ O"ten arti"actual 6hemolysis7 )ut rechec?+ , #aresthesias* (ea?ness* ;accid paralysis* tetany+ , EFG' !ea@ed )-waves+ wide M4S+ V-.ib+ code A Z O mED/> , 8reat (ith calciu# "luconate to sta)liRe the mem)rane. can have them hyperventilate too 6al?alosis ::H e5change F "or !* drives inside7* insulin T "lucose to drive inside also* then 7aye(ylate or other e5change resin to get out o" )ody+ 15 'y!o@ale#ia' i" F 3 I+4+ 8hin? loo! diuretics or vo#itin" induced al?alosis* or @etoacidosis , <ea?ness* tetany* constipation* polyuria/polydypsia , EFG' $attened ) waves+ !rolon"ed M)+ 8reat )y correctin" !'+ re!lentishin" 7 orally or I9+ *enetics I 1ther Con"enital Stu> )erato"ens Dru" 4esults :arfarin <Cou#adin/ 'y!o!lastic nasal brid"e* chondrodys!lasia punctata ,thanol Fetal alcohol syndrome* #icroce!haly* C!D 6septal de"ects* #D%7 =sotretinoin <Accutane/ .acial and ear anomalies* C'D %ithiu# C!D 6,bstein anomaly* atrial septal de"ect7 Penicilla#ine Cutis la(a syndrome Phenytoin <Dilantin/ 'y!o!lastic nails* intrauterine "rowth retardation* cleft li! and !alate 4adioactive iodine Congenital "oiter* hy!othyroidis# Diethylstilbestrol Va"inal adenocarcino#a during adolescence Stre!to#ycin Deafness )estosterone-li@e dru"s Virili9ation o" "emale )etracycline Dental ena#el hy!o!lasia* altered bone gro(th )halido#ide Phoco#elia* C'D 68OF* septal de"ects7 )ri#ethadione 8ypical facies* C!D 68OF* 8G%* !>!S7 Val!roate S!ina biFda Chro#oso#al disorders )riso#y 21' , 4th @nger )rachydactyly & clinodactyly* upslanting palpe)ral @ssures* epicanthal "olds* redundant nuchal s?in* single transverse palmar crease* &rushFeld s!ots 6(hite/gray spots in periphery o" iris7* ;at "acial pro@le* small* rounded ears* hyper;e5i)le Joints* poor &oro re;e5* )rachycephaly* (ide 0st//nd toe spacing* short stature+ hy!otonia & o"ten slower feedin" noted early on+ , %/( advanced maternal age+ ^42 "rom nondys6unction X also translocation 6can )e "amilial7* #osaicis# as less "reDuent causes+ , %/( cardiac defects 64127 incl endocardial cushion 6M127* VSD 6I127* 8et o" Fallot 6M27* also duodenal atresia 60/2* see double-bubble !attern* have bilious e#esis a"ter @rst "eedings7+ Other associations' hearing loss* stra)ismus* cataracts* nystagmus* 16 congenital hypothyroidism 6evaluate (ith optho* thyroid* hearing7+ , !igher ris? leu@e#ia+ Al9 d9 later on+ IYs can vary (idely+ , &ay have cervical s!ine instability' care"ul (ith activities that may involve "orce"ul ;e5ion )riso#y 1S' ,dwards Syndrome , >o(:set* mal"ormed ears* microcephaly* roc@er-botto# feet+ inguinal hernias* cle"t lip/ palate* #icro"nathia* clenched hands (ith overlapping digits* small palpe)ral @ssures* prominent occiput* small pelvis* short sternum* cardiac de"ects 69SD/%SD/#D%* coarcs7+ )riso#y 128 Patau Syndrome , microcephaly* sloping "orehead* holoprosencephaly* cutis a!lasia 6missing part o" s?in & hair7* !olydactyly+ #icro!hthal#ia* colobo#a+ omphalocoele+ %lso cle"t lip / palate* cardiac de"ects 69SD/%SD/#D%/de5trocardia7* hypersensitivity to atropine / pilocarpine containing agents+ )ri!le screen &'() * uncon+ugated estradiol, A.P 5,2 hC* Associated conditions lo( lo( hi"h Do(n Syndrome lo( lo( lo( trisomy 0U 6Ed(ardOs syndrome7 high n/a n/a neural tu)e de"ects li?e spina )i@da associated (ith increase levels o" acetylcholinesterase in aminonic ;uid* or omphalocele* or gastroschisis* or multiple gestation 4ett syndro#e' &EC#/ gene on C chromosome+ *irls afected+ A nor#al at birth )ut then ra!id decline B-1S #o (ith loss of use of hands+ steroty!ed hand-wrin"in" behaviors* lose a)ility to co##unicate sociali9e 'olt-1ra# syndrome' a)normalities in u!!er e(tre#ities+ hy!o!lastic radii+ thu#b a)normalities* cardiac a)normalities+ &ay )e missing !ectoralis #a6or #uscle too+ Se( Chro#oso#e Disorders 7linefelter Syndro#e <YYQ/ ' )ehavior pro)lems 6immaturity* insecurity7* develo!#ental delay 6speech* language* lo(er IY7* "yneco#astia+ hy!o"onadis#+ lon" li#bs0 O"ten undiagnosed until pu)erty+ 8 replacement can allo( "or more normal adolescent development 6)ut aRoospermia is the rule7. also incr ris@ breast cancer? YQQ #ales' classically BJuvenile delinDuentsT 6e(!losive te#!ers7* severe nodulocystic acne* mild !ectus e(cavatu#* large teeth* prominent gla)ella* relatively long "ace / @ngers* poor @ne motor s?ills 6penmanship7* low-nor#al =Ms+ >ong* asymmetrical ears+ 8end to )e taller than peers* aggressive starting at age 4:M )urner syndro#e' !ri#ary a#enorrhea+ short stature* hy!ertension 6horseshoe @idney/* coarctation o" the aorta 6and )icuspid aortic valve7* lo( posterior hairline* prominent* lo(:set ears broad ;shield- chest with widely s!aced ni!!les* e(cessive nuchal s@in+ 17 hy!othyroidis#* decreased hearing* edema in hands/"eet as ne()orns* cubitus val"us 6increased carrying angle o" arms7+ Nor#al #ental development+ .ra"ile Y' V0 cause inherited mental retardation+ &ostly in )oys. intellectual disability - #acroce!haly+ lon" face+ hi"h arched !alate+ lar"e ears+ #acroorchidis# a"ter pu)erty+ VA),48 Verte)ral pro)s* Anal anomalies* )racheal de"ects* ,sophageal a)nltys* 4adius or 4enal a)normalities Potter seJuence' lac? o" nl in"ant ?idney "5n ::H reduced urine output ::H oligohydranmios ::H constraint , de"ormities' (ide:set eyes* ;attened palpe)ral @ssures* prominent epicanthus* ;attened nasal )ridge* micrognathia* large* lo(:set ears Stora"e disorders Disease De@cient/ )uilds up Features )ay- Sachs &-he(osa#inidase A 6a G&/ gangliosidosis7 Aut-rec+ esp Ash@ena9i News0 Nor#al:appearing at )irth+ then !ro"ressive develo!#ental deterioration* not loo?ing at parents* increased ;startle0- Cherry-red s!ots in macula* sensitive to noise+ Sandho> G:he5osaminidase AI& 6a G&/ gangliosidosis7 Nie#ann Pic@ S!hin"o#yelinase Normal:appearing at )irth* then he!atos!leno#e"aly+ %AD+ !sycho#otor retardation in @rst M mo* then re"ress #ore *aucher &-"lucosidase Increased tone+ strabis#us+ organomegaly* F88* several years o" !sycho#otor re"ression )e"ore death+ Classically can see $as@-sha!ed bones* eg+ "emur* on 5: ray 7rabbe "alactocerebrosid ase Early in in"ancy' irritability + hy!ertonia+ o!tic atro!hy* severe delay & death in @rst I years o" li"e .abry &-"alactosidase Older childhood' an"io@erato#as in Bbathin" trun@ areaT. severe !ain e!isodes+ acro!aresthesias 6num)ness / tingling in e5tremities7* can have cataracts too 'urler a-iduronidase A #uco!olysaccharidosis0 coarse facies* corneal clouding* ?yphosis* he!atos!leno#e"aly+ um)ilical hernia* congenital heart disease+ Aut-rec 'unter iduronate:/: sul"atase A #uco!olysaccharidosis0 >i?e !urlerPs )ut Y-lin@ed & no corneal cloudin" Cherry red s!ot' thin? G&/ gangliosidoses 6)ay-Sachs+ Sandho>7 or Nie#ann-Pic@ , $epresents center o" normal macula surrounded )y lipid:laden gangion cells+ 18 Eetabolic disorders <hen these ?ids get sic?* "ive the# "lucose 6they go craRy cata)olic & all ?inds o" stuf )uilds up::H )ig time high %G met acidosis* and they get in trou)le fast7+ *alactose#ia 6a disorder o" carbohydrate #etabolis#/ #resents in Frst wee@s of life 6"ormula / )reast mil?7 F88* dehydration* listlessness* irrita)le* 6aundiced <indirect hy!erbili/* elevated %.)s* hy!o"lyce#ia* normal serum ammonia* #ouse-li@e urine odor+ %lso may have cataracts+ ascites0 &ost commonly de@ciency in "alactose-1-P uridyl transferase0 !igher ris? "or e0 coli se!sis0 )(8 re#ove "alactose "rom diet+ P75 6a disorder o" a#ino acid #etabolis#/ S5 develop in childhood 6unli?e other %% disorders7 Eoderate-severe E4+ hypertonia* tre#ors+ )ehavioral pro)lems+ %i"ht co#!le(ion+ fair s@in+ blonde hair 6tyrosine needed "or melanin=7 #ouse-li@e urine odor+ -f mom has P.' / isnt managing her diet, $a$" can have 01, %2D, etc3 De@ciency in !henylalanine hydro(ylase 6canPt convert phenylalanine to tyrosine7+ Neonatal screened+ 85' restrict !henylalanine consu#!tion 'o#ocystinur ia 6d/o o" a#ino acid meta)olism7 no s5 in in"ancy )ut loo@ li@e EarfanDs+ Vascular thro#boses ::H childhood stro@e+ E= Cystathione synthetase de@ciency 6canPt convert met to cys/ser7+ Dietary management hard 6lo( protein* "oul tasting7+ 412 respond to hi"h dose !yrido(ine 1)C DeFciency 6%% / urea cycle disorder7 #resents 23-3Sh a"ter !roteins introduced in "eeds : lethar"y+ co#asei9ures+ hi"h a##onia0 Can measure level o" orotic acid 6)yproduct o" car)amoylphosphate meta)olism7 in urine to help d5 Y-lin@ed O8C de@ciency+ 5rea cycle pro)lem 6ornithine - car)amylphosphate ::H citrulline in mito7+ CanPt ma?e urea E a##onia )uilds up= 85' very low !rotein diet 6)ut really hard7 *lyco"en stora"e diseases' all aut:rec* "rowth failure+ he!ato#e"aly+ fastin" hy!o"lyce#ia , 8ype I' von *ier@e+ type II' Po#!e* type 9' EcArdle , 8reat' !revent hy!o"lyce#ia (hile simultaneously avoiding even more glycogen storage+ 1ther =nherited Disorders Autoso#al Do#inant Chr *ene Co##ents 19 Achondro!lasia Kp FGF$I U12 ne( mutations. !ro(i#al li#b shortenin" Adult !olycystic @idney d9 0Mp #FD0/#FD/ 4enal cysts* intracranial aneurysm 'ereditary an"ioede#a 00D C0N! De@ciency o" C1 esterase inhibitor. episodic edema 'ereditary s!herocytosis Up* 0KD %NF0 Osmotic "ragility test. some aut:rec variants too* spherocytes & anemia Earfan syndro#e 04D FGN0 Aortic root dilatation* tall stature* hypere5tensi)le long tapering @ngers* etc+ NeuroFbro#atosis /p* 0QD* //D NF0/NF/ 412 new #utationsG cafZ au lait spots Protein C deFciency /D &ultiple genes 'y!ercoa"ulable state )uberous sclerosis ^D* 0/D* 0Mp 8SC0* 8SC/* 8SCI* 8SCK BAsh-leafT spots. sei9ures von :illebrand disease 0/p &ultiple genes Abnor#al !latelet f(n I reduced factor V===* ristocetin co"actor assay Autoso#al recessive Chr *ene Co##ents Con"enital adrenal hy!er!lasia Mp Ca#/0%/* Ca#00%0* Ca#0Q* %C8!$ &ultiple types : salt-wastin"* virili9ation* etc+ Cystic Fbrosis QD* 0^D CF8$ Caucasians. pancreatic insu_ciency* lun" dR* etc+ *alactose#ia disorder ^p G%>8 Carbohydrate meta)olism *aucher disease 0D GG% Ash@ena9i We(s+ %ysoso#al storage disorder =nfantile !olycystic @idney Mp 6or 0Mp E #FD0* 8SC/7 #FDI 4enal and he!atic cysts* hy!ertension Phenyl@etonuria 0/D #%! A#ino acid meta)olism disorder Sic@le cell disease 00p !GG Incr+ in %%+ Sic@le crises* 20 autos!lenecto#y* etc+ )ay-Sachs disease 04D !EC% Ash@ena9i We(s+ %ysoso#al storage disorder :ilson disease 0ID %8#QG De"ective co!!er e(cretion N chorea* 7.-rin"s Y-lin@ed recessive Co##ents &ruton a"a##a"lobuline#ia Absence o" i##uno"lobulins. recurrent infections Chronic "ranulo#atous disease Defective @illin" )y phagocytes. recurrent in"ections Color blindness Duchenne #uscular dystro!hy Pro(i#al #uscle wea@ness. *ower sign *lucose-B-!hos!hate dehydro"enase O5idant:induced he#olytic ane#ia de@ciency* incr+ in %% 'e#o!hilias A and & Factor 9III / IC de@ciency %esch-Nyhan syndro#e Purine meta)olism disorder. self-#utilation 1rnithine transcarba#ylase deFciency 5rea cycle disorder. hy!era##one#ia =#!rintin" 6or "rom uniparental disomy7 : the 15J11-12 disorders , Prader willi - missing the Parental copy+ X almond shaped eyes* do(n:turned mouth* small hands/"eet* short stature* hy!o"onadotro!ic hy!o"onadis#* incomplete pu)erty* hy!otonia 6F88 in in"ancy7* then uncontrollable a!!etite --L severe central obesity 6loc? the "ood a(ay=7+ OS%* pic?(ic?ian syndrome can result+ X #ild E4 (ith characteristic i#!ulse control too , An"elEan syndrome' missing the Eaternal copy0 X ma5illary hypoplasia* large mouth* prognathism* short stature+ X Severe E4 (ith i#!aired absent s!eech & inappropriate !aro(ys#s of lau"hter X Wer?y arm movements* ata5ic gait* tiptoe (al? E Bha!!y !u!!et- syndro#e *=Nutrition Nor#al caloric reJuire#ents' , 120 @cal@"d in @rst year o" li"e , 100 @cal@"d a"ter(ards , 50-100P more i" F88 "or catch:up gro(th .or#ula has 20 @calo9 6I1cc E 0 oR7 generally 6i" prepared properly7 21 .eedin"' , Greast e5clusively - vitamin D* iron "or @rst M months 6or "ormula7 , %dd iron "orti@ed cereals at K:M months , Start )a)y "oods at M months 6"ruits* veggies7. introduce one ne( "ood at a time+ , <hole mil? at 0/ months until /K months. s?im mil? at /K months , DonPt prop )ottle= get caries= Colic' recurrent irrita)ility* several hours long* late a"ternoon/ evening* dra(s ?nees to a)domen & cries inconsola)ly* )ut then stops spontaneously .or#ula#il@table food I nutrient deFciencies' , *oatDs #il@ lac?s folate+ &12+ iron+ I" unpasteuriRed* brucellosis can )e a pro)lem , &reast #il@ lac?s vita#in D+ Can e5acer)ate Jaundice 6higher unconJugated )iliru)inemia. 0/:/Kh hiatus to @57* and associated (ith lo( vitF levels 6)ut given at )irth7+ Greast:"eeding ve"an #o#s are given &12 6may )e de@cient. child could develop methylmalonic acidemia7. so are vegan toddlers+ , :hole #il@ is lo( in iron. ta)le "oods donPt have iron either : so i" a ?id is s(itched to (hole mil?* ta)le "oods at too young an age* can develop iron deFciency ane#ia &reast feedin" , Contraindications' active !ul# )&+ '=V* also malaria* typhoid "ever* septicemia* antineoplastic agents , OF' #astitis 6"reDuent "eedings can help )y preventing engorgement=7* #ild viral illness* crac@ed bleedin" ni!!les 6despite discom"ort7 17 "or )reast:"eeding mom Contraindicated "or )reast:"eeding mom &ost anti)iotics e5cept "or tetracycline Sedatives* narcotics 6)ut monitor "or sedation7 >ithium* cyclosporin* antineoplastic agents* illicit drugs* ergotamines* )romocriptine 6suppresses lactation7* tetracycline *alactose#ia' de@ciency o" uridyl transferase. results in 6aundice+ he!atos!leno#e"+ vo#itin"+ hy!o"lyce#ia+ sR* lethargy* irriti)ility* poor "eeding & F88* aminoaciduria* liver "ailure* &$* incr+ ris? E+ coli sepsis , S5 (hen ta?ing mil?. manage (ith lactose-free for#ula li?e soy #il@ )o(icities8 )o(icity S( D( %ead >oo? "or h5 o" e5posure S5' anore(ia* hy!erirritability* altered speech pattern developmental regression* abdo#inal complaints+ Can progress to ence!halo!athy 6vomiting* ata5ia* altered &S* coma* sR7+ D5' blood lead level+ %lso stored in )one 6lvls can rise a"ter chelation as #) released "rom )one=7 22 85' , Education* environmental eval* etc+ , Chelation i" Pb L 35 6D&S%/succimer or CaED8%7+ , 'os!itali9e I chelate i" G>> H V00 Ad#it i" sy#!to#atic 1r"ano- !hos!ha te 6cholinesterase inhi)itors7 : insect sprays* etc D5E&&,%S 6diarrhea/de"ecation* urination* miosis* )radycardia* )ronchorrhea* emesis / e5citation o" muscles* lacrimation* salivation7 )(8 Atro!ine 6anticholinergic7* Pralido(i#e 6regenerate cholinesterase7 1rellanin e 8o5in "ound in Cortinarius spp o" mushrooms A Nausea+ vo#itin"+ diarrhea (ith renal to(icity a "e( days later #CGs #olychlorinated )iphenyls. cross placenta / go to )reast mil?* [ cause )ehavioral pro)s later Cyanide !eadache* agitation* sei9ure+ dysrhyth#ia+ severe #etabolic acidosis Eercury - ele#ental No s( i" Just a small )it 6thermometer7 *= co#!laints i" ele#ental+ in"ested 4-, fever, chills, 25A, vis changes, pneumonitis, chest pain if elemental inhaled3 Eethyl #ercury 6contaminated @sh7 Adults8 Fne tre#ors in upper e5trem* blurry vision+ anos#ia / taste pro)s* dementia* death =nfants e5posed in utero' >G<* #icroce!haly* sR* developmental delay* visionhearin" pro)s =nor"anic #ercury 6"elt* Bmad hatterT7 Gingivostomatitis* tremor* neuropsych distur)ances Arsenic Nausea+ vo#itin"+ abdo#inal !ain+ diarrheaG can get third spacing / he#orrha"e in "utG also lon" M)+ C'.* sR* cere)ral edema* coma+ Get loss of D)4s* paralysis* dysesthesias neuro:(ise )CAs Smaller ?ids' CNS s5 predominate 6dro(sy* lethargic* coma* seiRures7 Older ?ids' Cardiac s5 predominate 6wide M4S+ bundle branch bloc@s7 85' ad#it to =C5* give )CA .ab fra"#ents i" availa)le Aceta#in o-!hen Nausea+ vo#itin"+ dia!horesis over 23-3Sh #ea? liver "unction a)normalities in 2-2 days. either recover or get (orse in /:I (?s 8reat (ith n-acetylcysteine Anti- choliner"i cs atropine* 0st generation antihistamines* etc+ &ad as a hatter* red as a )eet* )lind as a )at* hot as a hare* dry as a )one 85' !hysosti"#ine in select cases+ se activated charcoal C1 lethargy* irrita)ility* con"usion* diRRiness* !/%* cyanosis* palpitations D5' blood carbo(yhe#o"lobin levels+ See #et acidosis (ith nor#al Pa12 on )lood gass* also myoglo)inuria7 85' o(y"en 6normo)aric 0112* hyper)aric i" availa)le "or severe poisoning7 23 ,thylene "lycol %nti"reeRe* radiator ;uid* etc+ %nore5ia* vomiting* lethargy+ Chec? serum level* high %G met acidosis+ envelo!e-sha!ed calciu# o(ylate crystals in /% 8reat (ith fo#e!i9ole 6)loc?s meta)olism7* can use Na!COI to correct met acidosis Eethanol N/9* ine)riation* increase in minute ventilation as met acidosis develops* blurred vision Get serum methanol level. high %G met acidosis 8reat (ith ethanol to )loc? meta)olism* Na!COI to correct met acidosis Salicylate s !ypernea / tachypnea' mi5ed res!iratory al@alosis I #etabolic acidosis 6see increased p! (ith decreased #CO/ and )icar)7+ get seru# salicylate level 8reat (ith activated charcoal & al?aliniRe serum* correct hypoF Activated charcoal' , Good "or enterohe!atic circulation drugs 6)CAs+ !entobarb7 and those (ith !rolon"ed absor!tion 6e+g+ sustained release theophylline7 to clear out "rom gut X %dminister during @rst "e( hours a"ter ingestion i" indicated+ , Not good "or alcohols+ acids+ ferrous sulfate+ stron" bases 6drain cleaners* oven cleaners7* cyanide+ lithiu#+ !otassiu# : not a)sor)ed )y particles on sur"ace Nutrients8 Nutrient DeFciency ,(cess Vita#in A Ni"ht blindness* 5eropthalmia 6dry eyes7* ?eratomalacia 6dry cornea7* con6uncitivitis* poor gro(th+ i#!aired resistance to infection* a)normal tooth enamel development =ncreased =CP+ anore(ia* carotenemia* hy!erostosis 6pain* s(elling o" long )ones7* alo!ecia* he!ato#e"aly* poor gro(th Vita#in D 4ic@ets 6elevated serum phosphatase levels )e"ore )one de"ormities7* osteo#alacia* in"antile tetany+ See lo( /KO!D* lo( Ca* elevated al? phos* poor )one mineraliRation* increased "5 ris?+ sually nor#al seru# Ca+ )ut low seru# !hos+ 'y!ercalce#ia* a9ote#ia* poor gro(th+ NVD* calcinosis o" a variety o" tissues* including ?idney* heart* )ronchi* stomach Vita#in , 'e#olytic ane#ia in preemies n?no(n Vita#in C <ascorbic acid/ Scurvy* poor wound healin" Can predispose to @idney stones 6calcium o5alate7+ %lso diarrhea* cramps )hia#ine <&1/ &eriberi 6neuritis+ ede#a+ cardiac failure7* hoarseness* anore(ia* restlessness* aphonia n?no(n 24 4ibo$avin <&2/ Photo!hobia+ cheilosis+ "lossitis+ corneal vasculari9ation+ poor gro(th n?no(n Niacin Pella"ra 6dementia* dermatitis* diarrhea7 Nicotinic acid E $ushin"+ !ruritis Pyrido(ine <&B/ =nfants8 irritability+ convulsions+ ane#ia0 1lder !atients on isoniaRid' der#atitis* "lossitis* cheilosis* peripheral neuritis Sensory neuro!athy* also "ever & pain .olate &egalo)lastic anemia* glossitis* pharyngeal ulcers* impaired cellular immunity sually none &12 Pernicious ane#ia+ neuro deterioration+ #ethyl#alonic acide#ia n?no(n Pantothenic acid $arely de!ression+ hy!otension* muscle (ea?ness* a)dominal pain n?no(n &iotin Der#atitis+ seborrhea+ anore(ia* mm pain* pallor* alopecia n?no(n Vita#in 7 'e#orrha"ic mani"estations <ater:solu)le "orms can cause hyper)iliru)inemia &iliary Atresia8 )ile duts )loc?ed* @)rotic ::H no )ile ;o( into )o(el0 , Fasai procedure 6)o(el loop "orms duct to drain )ile "rom liver7 can )e use"ul+ Poor bile $ow 6)iliary atresia* liver "ailure7 E poor AD,7 absor!tion Pri#ary <fa#ilial/ hy!o!hos!hate#ia8 [1 cause of nonnutritional ric@ets* Y-lin@ed do#inant dR , a)nl phosphate rea)sorption. a)nl /4vitD to 0*/4vitD conversion in pro5 tu)ules o" ?idney a)normal , >o( 0*/4vitD* lo(Enor#al Ca+ low !hos!hate+ elevated al?:phos* hyperphosphaturia* no hyper#8! , Smoother lo(er e5tremity )o(ing 6Ca:dependent ric?ets E more angular7* (addling gait* no rachitic rosary* tetany* etc+ 4enal osteodystro!hy' lo(/n> serum ca* incr+ serum phosphorus* incr+ al? phos+ , !ypophosphaturia ::H hypocalcemia ::H incr0 P)' --H more )one turnover , also lo( production o" 0*/4vitD (ith ?idney damage DD5 o" ric?ets' Sch#id #eta!hyseal dys!lasia 6aut:dom* short stature* )o(ing legs* (addling gait7 25 , irregular long )one mineraliRation )ut normal Ca/phos/al? phos levels+ 26 Co#!arison of CaPhosP)' disorders Ca Pho s P)' 1ther Vita#in-D resistant ric@ets N% %ow N> Genetic pro)lem in tubular reabsor!tion of !hos!hate E pee it out* lo( in )lood. also a)normal /4vitD:0*/4 convers+ Y-lin@ed do#inant 6"amily history o" "5* lo( )one calcium density7 Pseudohy!o- !arathyroidis# %ow 'i"h '=*' %F% Albri"ht hereditary osteodystro!hy* li?e hypoparathyrodism (ith high #8!+ %lso obesity+ brachydactaly o" 3th5th di"its* cataracts* calciFcations in brain 6periventricular & in )asal ganglia7 1steo"enesis =#!erfecta N% N% )lue sclera* easily )ro?en )ones : a)normality in production & composition o" bone #atri( (ith normal ca/phos 'y!o!arathyrodi s# %ow 'i"h %1: unusual outside o" neonatal period : lo( #8! ::H reduced )one resorption* reduced e5cretion o" phos & reduced 0*/4vitD "ormation in pro5 tu)ule E low Ca+ 'i"h !hos+ Can see nu#bness+ tin"lin"+ sei9uers tetany &edullary thryoid Ca N> N> N> &8C may ma?e calcitonin )ut nor#al ca!hosP)' unless E,N ty!e == 6(ith associated hyperparathyroidism7 =ntussusce!tion' , 6)ilious7 e#esis T inter#ittent abdo#inal !ain* )loody stools 6currant 6elly E late @nding7* ?id draws u! @nees in pain+ , classically sausa"e-sha!ed tubular #ass on e5am* o"ten (ith lead !oint 6lymphoma* mec?elPs diverticulum* etc7 around ileocecal valve , get air contrast ene#a "or d5 / t5 Ealrotationvolvulus' thin? a)out in neonates with bilious e#esis /// o)struction+ , I" prolonged* can have necrotic bowel - #elenahe#atoche9ia+ !eritonitis+ acidosis+ se!sis , Ealrotation' incomplete intestinal rotation in @rst trimester X >igament o" treitR : usually @5es duodenoJeJunal Junction to > spine. here* ligament on $ side* small )it o" mesentary can )e a5is "or gut to turn around , Volvulus' mesentary t(ists around small intestine ::H decreased per"usion* ischemia* necrosis X Classic @ndings' cor@screw !attern o" duodenum 6)arium going through t(isted portion* loo?s li?e cor?scre(7* or ;birdDs bea@- o" /nd/Ird duodenal portions+ Get u!!er *= series to evaluate+ X $eDuires e#er"ent sur"ical intervention a"ter $uid status evaluated & @5ed i" 27 neded+ \ %lso !lace N* tube to deco#!ressG "et c( and initiate =V ab( 6sepsis (or?up7 \ Surgery' get an a!!endecto#y & F( bowel to abdo#inal wall Pyloric stenosis' increasin" !ro6ectile e#esis 6non)ilious7 (ith olive sha!ed abdo#inal #ass* visi)le peristaltic (aves. la)s have hy!ochlore#ic #etabolic al@alosis , K5 more common in #ales+ 1st born ?ids. presents in 2rd-Sth w@ life0 %ssociated (ith erythro#ycin0 , d(8 can con@rm (ith abd 5S0 pper GI sho(s ;strin" si"n- 6thin line o" contrast going through stenosis7 , 8reatment' N* !lace#ent. correct dehydration / al?alosis / etc+ Pyloro#yoto#y (hen sta)le+ A!!endicitis' classically abdo#inal !ain follo#ed )y nausea vo#itin". perium)ilical to $>Y migration &loody e#esis' thin? a)out &:< tears* NS%IDs* liver dR. also thin? 6uice+ beets+ red 6ello+ liJuid #eds &lac@ stool' thin? a)out diarrhea* constipation / tears* etc. also thin? .e in"estion+ bis#uth+ blac@berries *astric lava"e can help determine i" upper GI & )ris? 6pro5 to ligament o" 8reitR7 or lo(er GI in )loody stools+ Classic Fndin"s for abdo#inal !ain <infants+ youn" @ids/8 Condition Si"ns+ s( Abdo#inal #i"raines $ecurrent a)d pain (ith emesis A!!endicitis $>Y pain (ith guarding & re)ound &acterial enterocolitis Diarrhea 6-/: )loody7* "ever* vomiting Cholecystitis $Y pain Diabetes #ellitus #olys - (eight loss 'SP #urpuric lesions* Joint pain* )lood in urine* guiac - stools 'e!atitis $Y pain & Jaundice =ncarcerated in"uinal hernia Inguinal mass* lo(er a)d / groin pain* emesis =ntussuce!tion Colic?y a)dominal pain* currant Jelly stools Ealrotation with volvulus %)d distention* )ilious vomiting* )lood per rectum* presenting in in"ancy Ne!hrolithiasis !ematuria* colic?y a)dominal pain 28 Pancreatitis Severe epigastric a)d pain (ith "ever* persistent vomiting PNA Fever* cough* rales S&1 Emesis* o"ten h5 prior a)dominal surgery Stre! !haryn"itis Fever* sore throat* headache )esticular torsion 8esticular pain* edema 5rinary tract infection Fever* vomiting* diarrhea in in"ants. )ac? pain in older ?ids
)racheo-eso!ha"eal Fstula' , most commonly involves eso!ha"eal atresia 6)lind pouch7 (ith esophagus coming of o" trachea pro5imal to ?arina+ %ssociated (ith VA),4 69erte)ral a)normalities* %nal a)normalities* 8:E @stula* $adial/$enal anomalies7. Di*eor"e syndrome 69SD* great vessel pro)lems* esophageal atresia* )i@d uvula* etc7+ , D5' Polyhydra#nios in utero+ %"ter )irth' failure to !ass oro"astric tube in a ne()orn (hoPs cho?ing. see coiled tube on @lm+ %t ris? "or aspiration 6suction constantly (hile a(aiting surgery7 X '-ty!e 8EF can present later 6several #onths o" age (ith recurrent as!iration PNA/ X Can also see (ith #odiFed bariu# swallow (ith ;uoro ,osino!hilic eso!ha"itis' intermittent vo#itin"+ dys!ha"ia+ e!i"astric !ain. "ood getting Bstuc?T* no help "rom acid )loc?ade 6vs GE$D7+ , ,osino!hils on )iopsy+ Can have ato!ic food aller"y h(+ 4( (ith corticosteroids+ Pe!tic ulcer disease' ?id (ith .'( P5D or #D s5* nocturnal abd !ain+ *= bleedin" 6pain V0 s57 , Get u!!er *= endosco!y , 8est "or '0 !ylori 6e+g+ urea )reath test7* treat (ith acid bloc@ade ab( tri!le thera!y 'irsch!run"' suspect in children (ith intractable chronic consti!ation (ithout "ecal soiling , Neonatal h5 delayed !assa"e of #econiu# : can have distention* N/9 , %lso at ris? o" developing enterocolitis+ , G5' increased acetylcholinesterase+ absence o" "an"lia cells0 X %lso have failure of internal s!hincter to rela( (ith balloon distention of the rectu# on anal manometry+ Can see transition 9one on contrast ene#a 6dilated pro5imal )o(el. a)normally narro( distal segment (hich is aganglionic7+ , 85' sur"ery 6colostomy* pull:through7 , 9s "unctional constipation (here you more o"ten see over;o( diarrhea Eec@el diverticulu#' !ainless rectal bleedin" in Frst 2 years of life , remnant o" the vitilline duct 6connects yol? sac / intestine. here stays as diverticulum connected to ileum7 , 0+42 o" population has it* )ut rarely causes symptoms , I" symptomatic* usually has acid-secretin" "astric #ucosa in lining. can lead to ulcerations+ bleedin"+ diverticulitis+ rarely !erforation or can undergo eversion 29 intussuce!tion , D5 (ith )ec-OO scan 6la)els gastric mucosa7* @5 (ith sur"ical e(cision+ 1verwei"ht Syndro#es' , Prader-:illi' hy!otonia+ hy!o"onadis#+ hy!er!ha"ia a"ter ne()orn period* E4+ obesity X deletion in Paternal chromosome 15+ >ittle in utero movement+ X hy!otonic as neonates and can initially have F88 / "eeding pro)lems , %aurence-Eoon-&iedel <&ardet-&iedel7' aut-rec trait* obesity+ E4+ hy!o"onadis#+ !olydactyly+ retinitis !i"#entosa (ith ni"ht blindness , .rohlich syndro#e' childhood o)esity associated (ith hy!othala#ic tu#or *55rinary %abial adhesions' )enign condition* "used la)ia maJora* common in !readolescent 6lo( estrogen7 girls , Can cause urine pooling : increased 5)= "reDuency , <ill resolve (ith !uberty estro"en* )ut can also apply estro"en crea# ( 1 wee@ to help resolve+ Non-s!eciFc vulvova"initis' )ro(n* green discharge* malodorous* )urning (ith urination E urine on irritated s?in , Chec? "or bubble baths+ ti"ht Fttin" clothes+ !erfu#ed lotions used in vaginal area* i#!ro!er toilet habits 6(iping to(ard vagina7 .ores@ins I stu> , adhesions between "lans !re!uce lyse (ithin @rst I years o" li"e in ^12* glans e5posed X Can see cellular debris 6(hite7 under "ores?in* not abnor#al+ no t( needed , Phis#osis E ina)ility to retract "ores?in+ #hysiologic in @rst years o" li"e+ %"ter age I* pathologic , Para!his#osis E painful* fores@in gets retracted* trapped )ehind glans ::H edema* venous congestion ::H canPt get it )ac? into place= 'y!os!adius' Dont circumcise= 8hey might need that tissue "or repair+ Cry!torchidis#' increased ris? o" malignancy+ %/< in"uinal hernias too , S!ontaneous descent unli@ely a"ter 2 #o o" age 6operate )t(n M:0/mo7+ Gring it do(n & @5 it in place 6orchi!le(y7 "or easier e5ams* also reduces ris? o" torsion 6high i" ;oating around in a)domen=7+ )ut doesnPt decrease ris? o" malignancy+ )esticular torsion' Causes #a6ority of acute scrotal !ain swellin" in boys L 12 years0 8esticle is elevated? sually unilateralG can wa@e child fro# slee! cause NV0 , &ell-cla!!er defor#ity' mo)ile testis 6posterior attachment to tunica vaginalis missing+ , Get sur"ical consult ri"ht away? DonPt mess around (ith delay "or doppler 6need to get in there & @5 it=7 : get do!!ler later (hile (aiting "or surgical consult to come through+ 8ry to #anually detorse <o!en boo@7 in ED also (hile (aiting+ 30 , &lue dot si"n on upper aspect o" scrotum (ith nor#al cre#asteric re$e( suggests torsion of a!!endi( testes 6)ut should use /S (ith doppler to r/o testicular torsion7+ 'ydrocoele' Fluid @lled sac in scrotal cavity+ $emannt o" !rocessus va"inalis+ &ay )e communicating (ith periotoneal cavity : in (hich case you need to @5. o/( involute on their o(n+ Varicocele' common* seen a"ter 10 years of a"e+ ;ba" of wor#s- a)ove non-tender testis , "rom dilated vv o" !a#!inifor# venous !le(us 6usually on left side/ "rom inco#!etent valve of s!er#atic vein0 Can cause reduced s!er# counts. may need sur"ery i" in"ertility pro)lems , diagnosis usually doesnPt need Doppler* can "eel )ag o" (orms and then reassure educate unless pro)s+ ,!ididy#itis' see redness+ war#th+ scrotal swellin" )ut !reserved cre#asteric re$e(+ #ain usually !osterior 6over epididymis7+ 9s torsion* here the testicle is not elevated 'e#atolo"y Ane#ia Physiolo"ic ane#ia' nadir at B w@s o" age in preemie* 2-2 #o in ter# infant Eicrocytic ane#ia (ith decreased 4&C !roduction' impaired heme or glo)in production= , thalasse#ias+ iron deFciency* some ane#ia of chronic disease 6all hypochromic too7+ Occasionally lead !oisonin" can do it too , =ron deFciency ane#ia' lo( iron* high 8IGC* lo( "erritin X I" iron deFcient : give oral iron 6pre"erred "orm7 , Ane#ia of chronic disease in$a##ation' lo( iron* lo( 8IGC* high "erritin , )halasse#ias' X Al!ha-thal' can )e cis or trans 6alpha deletions on one : cis : or )oth : trans : genes7+ 8hin? S, Asia+ #editerranean+ etc0 \ I" homoRygous 6all "our7* then 'b &art 6K gammas* hydrops "etalis7 : more common in SE asia )ecause o" more cis mutations+ \ I" I mutations* 'b' disease 6K G chains7 a"ter @rst "e( months o" li"e+ \ i" / mutations* al!ha-thal #inor 6a little e5tra !)%/* !)F7 \ i" 0 mutation* silent carrier X &eta-thal' deletions o" )eta gene+ \ i" homoRygous* beta-thal #a6or 6severe hemolytic anemia* splenomegaly* "rontal )ossing* prominent chee?)ones* F88* etc. death i" not transfused a lot : )ut that has its o(n )ad parts* li?e iron overload7+ \ I" heteroRygous* beta-thal #inor 6hypochromia* microcytosis* )ut not really )ad anemia. elevation o" !)%/ level7+ Nor#ocytic ane#ia (ith decreased red cell !roduction' )one marro( not ma?ing $GC , )ransient erythroblasto!enia of childhood' acDuired pure red cell aplasia* usually preceded )y viral in"ection* normocytic anemia+ S5P after 1 year of a"e 6vs diamond 31 )lac?"an or physiologic nadir7+ X Gradual onset o" pallor over (ee?s+ Normal peripheral smear e5cept "or reticulocytopenia+ X 'b is usually at nadir at d5 time+ Only trans"use i" C!F developing , %lso on dd5' Parvovirus &1O-induced a!lastic ane#ia+ dru" to( "rom #yelosu!!ressive a"ents* or acute blood loss+ ane#ia of chronic disease can also )e normocytic+ Nor#ocytic ane#ia (ith increased red cell !roduction8 most o"ten he#olytic A ,(tracor!uscular' e5trinsic to red cell W =soi##une' %) "rom one individual destroying $GC o" another+ A&1#inor A" inco#!atibility W Autoi##une' idiopathic* postin"ectious 6Eyco!las#a !neu#oniae+ ,&V/* drug: induced 6PCN+ Juinidine+ al!ha-#ethyldo!a7* or chronic autoimmune dR 6S%,/ or malinancy 6N!>7 W 8he anti)odies "or either o" the a)ove can )e+++ \ :ar#-reactin" ="*8 war# (eather is *reatG @5 cP )ut donPt activate the (hole (ay* so removed e(travascularly in 4,S0 Id (ith Direct Coom)s \ Cold-reactin" ="E8 EEE - Cold ice cream. intravascular hemolysis since can @5 CP the (hole (ay+ Especially (ith #yco!las#a+ ,&V+ transfusion r5ns W Non-i##une' #icroan"io!athic 6DIC* 88# / !S* malignant !8N* etc7 or "rom artiFcial valves+ AVEs+ hy!ers!lenis#+ to(ins 6sna?e venom* copper* arsenic7* malaria* )urns+ A =ntracor!uscular8 mem)rane de"ect W 'ereditary s!herocytosis8 Aut-do# de"ect in an@yrin+ s!ectrin proteins that support mem)rane+ microspherocytes+ Destroyed in microvasculature o" spleen+ \ #ositive os#otic fra"ility test and uncon6u"ated hy!erbilirubine#ia+ \ S5' Can range "rom as5 to chronic trans"usion reDuirement+ *allstones+ cholycystitis* s!leno#e"aly* pallor common+ Suscepti)le to aplastic crisis+ \ 85' folic acid su!!le#entation 6ma?ing lots o" $GC=7* trans"usion as needed* s!lenecto#y a"ter M y/o W Sic@le cell disease' 9al "or glutamate in Mth %% o" )eta:glo)in chain+ \ D5 (ith !) electrophoresis+ \ =nfancy' !allor+ 6aundice+ s!leno#e"aly* systolic eJection murmur+ Dactylitis 6avascular necrosis o" &C#/metatarsal )ones* pain"ul7 at 3-B #o of a"e+ \ Childhood' delayed se5ual development* s!lenic seJuestration+ a!lastic hy!erhe#olytic crises* auto-infarction o" spleen eventually+ Pria!is# in ages M:/1+ \ Adolescence' avascular necrosis o" "emoral head+ \ 9aso:occlusive crises too. can decrease (ith hydro(yurea thera!y+ Acute chest syndro#e* stro@es are other serious seDuelae W *BPD' C:lin?ed recessive+ &utation in he(ose #ono!hos!hate shunt path(ay. 32 deplete N%D#! and canPt regenerate reduced glutathione / protect $GC "rom o5idative stress+ %% / &editerraneans+ \ 1(idative stress 6sul"onamides* nitro"urantoin* primaDuine* dimercaprol7 ::H glo)in precipitates as 'ein9 bodies* damaged cells removed )y 4,S / bite cells can "orm as heinR )odies eaten )y $ES cells+ \ Classic pres' e!isodic+ stress dru" induced he#olytic ane#ia+ \ D5' deFcient NADP' for#ation on *BPD assay* )ut (ait til acute hemolysis is done 6most o" de@cient cells have )een destroyed ::H can give "alse:normal result=7 \ 85' avoid dru"s that induce he#olysis* trans"use* hydrate during crisis Ee"aloblastic #acrocytic ane#ia (ith decreased $GC production , &12 deFciency' G0/ "ound in @sh* meat* cheese* eggs+ Com)ines (ith IF "rmo gastric parietal cells* a)sor)ed in terminal ileum+ Can )e due to dietary deFciency 6rare e5cept "or in )reast:"ed )a)ies o" vegan moms7* con"enital or 6uvenile !ernicious ane#ia 6IF de@ciency7* ileal resection+ s#all bowel over"rowth+ Di!hyllobthriu# latu# 6@sh tape(orm7+ X *lossitis+ diarrhea+ wei"ht lossG !aresthesias+ !eri!heral neuro!athies+ !ost0 colu#n de"eneration* dementia* ata5ia. also vitiligo+ See hy!erse"#ented PENs* ho(ell:Jolly )odies* nucleated $GC* megalo)lastic $GC+ X D5 (ith low &12G can diferentiate cause (ith Schillin" test X 8reat (ith #onthly =E &12 6should see reticulocytes (ithin I days* anemia )etter in 0:/ mo7 , .olate deFciency8 "ound in liver+ "reen ve""ies+ cereal+ #eatcheese (ith small stores 6can get de@cient in 0 month7+ InadeDuate inta?e 6"oatDs #il@+ eva!orated #il@+ heat-sterili9ed #il@/* impaired a)sorption 66e6uanal processes : IGD* celiac7* increased demand 6hypethyroid* pregnancy* malignancy7* dru"s 6phenytoin* pheno)ar)7 X Glossitis* pallor* malaise* )ut no neuro deFcits+ >o( $GC "olate* normal G0/+ Same changes as G0/ on peripheral smear+ X 8reat (ith folate 1#" P1 ( 1-2 #o (ith rapid clinical response : note that "olate (ill correct the anemia o" G0/ de@ciency* )ut (onPt @5 neuro pro)lems= Ee"aloblastic #acrocytic ane#ias , Dia#ond-&lac@fan Syndro#e' congenital !ure red blood cell a!lasia* aut rec or aut dom X %nemia shortly a"ter )irth* macrocytic (ith reticulocytopenia+ X See elevated 'b.+ fetal i anti"en on 4&C+ X %lso a/( short stature+ web nec@+ cleft li!+ shield chest+ tri!halan"eal thu#b 6?ind o" reminiscent o" 8urner syndrome7+ X 85' hi"h dose corticosteroids 6inde@nitely7 : Q42 respond* others need "reDuent trans"usions+ Some can have &E) "rom matched si)ling donors , Severe a!lastic ane#ia' chemicals 6chloramphenicol7* hepatitis virus* ioniRing radiation* idiopathic X Need &E) fro# #atched siblin"+ &ight )e a)le to use antithymocyte / lymphocyte glo)ulin* corticosteroids* G:CSF "or some+ , .anconi Ane#ia' aut:rec disorder+ 8ypical presentation ] Syo (ith !ro"ressive 33 !ancyto!enia X %/( pigmentary changes 6cafe-au-lait/* s?eletal 6microcephaly7 / renal / developmental a)normalities* absent thu#bs+ horseshoe absent @idney X De"ect in DN% repair ::H too many )rea?s / recom)inations+ Increased ris? o" leu@e#ias X Eacrocytic ane#ia+ Can d5 (ith increased chro#oso#al brea@a"e (ith e5posure to diepo5y)utane 6D,&7 : damages DN%+ X 85' need $GC trans"usion* a)5 to treat anemia / in"ections* corticosteroids+ &E) is )est i" possi)le* )ut donDt really blast with che#o radiation doses 6canPt repair=7 Characteristic s#ear Fndin"s , 'owell-Nolly bodies : seen in as!lenic !atients 6small )its o" nuclear renmants in nucleus7 , )ar"et cells : seen in al!ha-thal+ 'bC disease+ liver disease 6too much mem)rane. resistant to osmotic "ragility , S!herocytes : seen in hereditary s!herocytosis. "ragile* can use os#otic fra"ility test X Fids are ane#ic (ith hy!erbilirubine#ia I reticulocytosis* or can present in adult hood (ith symptoms+ 'e!atos!leno#e"aly I "all bladder d9 most common s5 a"ter in"ancy+ &abies with ane#ia , .eto#aternal transfusion' consider in @ids who are ane#ic shortly after birth (ith no 4h or A&1 inco#!atibility (ith mom* as (ell as nor#al reticulocyte count+ Can do Fleihauer:Get?e stain "or "etal hemoglo)in:containing GCs in momPs )lood to diagnose , Physiolo"ic ane#ia of infancy' erythropoesis ceases a"ter )irth. 'b values decline* nadir at B-S wee@s , =ron deFciency' consider in term in"ant )et(een O-23 #onths 6iron stores "rom circulating hemoglo)in e5hausted. sho(s up no( i" no good iron source provided7+ , Sic@le cell ane#ia' usually 3-B #onths 6(hen fetal 'b pretty much all replaced )y adult sic@le 'b7 )hro#bocyto!enia , Can see (ith I8# 6)elo(7 , '=V+ ,&V in"ection can cause , Dru"s' #CNs* 8&#:S&C* dig* Duinines* cimetidine* )enRos* heparin. also &&$ vaccine+ , Neonatal isoi##une thro#bocyto!enic !ur!ura' &omPs IgGs can cross placenta* destroy "etal platelets ::H treat (ith IvIg / corticosteroids a"ter )irth until maternal a) disappear+ , ))P' lac? o" ADAE)S 12 6v<F:cleaving protease7 ::H )ig* multimeric v<F "orms ::H increased platelet aggregation* throm)ocytopenia+ also he#olytic ane#ia+ fever+ renal involve#ent+ neuro !roble#s , '5S' a"ter Shigella or E+ coli O04Q'!Q : #icroan"io!athic he#olytic ane#ia+ renal cortical in6ury+ thro#bocyto!enia "rom platelet adhesion to inJured vascular 34 endothelium. may need temp dialysis =##une )hro#bocyto!enic Pur!ura' A 1ften !ost-viral* can also )e due to &&$ va5* drugs* !I9+ 8hin? !etichiae in well- a!!earin" @id (ith recent febrile illness 6!S#' sic? loo?ing=7 A !lt K 20+000* bruisin" !etichiae #5o hepatosplenomeg / >N involvement+ A >a)s' "et a blood s#ear+ On CGC* !)* hct* ()c* dif are normal A &ost serious complication E intracranial he#orrha"e 6)ut rare7. A 8reatment is controversial 6no good improved otucomes7* )ut may use I9IG to decrease platelet destruction* I9:anti:D therapy* /:I (?s o" systemic corticosteroids+ s!lenecto#y i" serious complications 6)ut then no spleen E more in"ections E need pneumova5* #CN pp57 )hro#bocyto!enia-absent-radius' )hro#bocyto!enia* )ilateral absence o" radius* abnor#ally sha!ed thu#bs. can have )1.ASD. K12 die "rom )leeding "rom lo( platelets in neonatal period+ Coa"ulation cascade defects 'e#o!hilias' indistinguisha)le clinically+ Severity depends on degree o" "actor de@ciency+ &ild 64:K^2 normal "actor7 E need signi@cant trauma "or )leeding. moderate 60:427 reDuire moderate trauma. severe 63027 have spontaneous )leeding+ he#arthroses are sterotypical+ Give factor concentrates* )ut can develop inhibitors 6IgG against trans"used "actors* ma?es treatment di_cult7+ + Goth (-lin@ed rec0 , 'e#o!hilia A' Factor 9III de@ciency* can use DDAVP 6releases "actor 9III "rom endothelial cells7 , 'e#o!hilia &8 Factor IC de@ciency* DD%9# has no efect Von :illebrand Disease' de@ciency o" v<F. )oth connects su)endothelial collagen to activated platelets & )inds to circulating "actor 9II* protecting it "rom clearance+ &ultiple types+ , >oo?s li?e thro#bocyto!enia 6mucocutaneous )leeding* epista5is* gingival )leeding* cutaneous )ruising* menorrhagia7 )ut also low factor V=== 6P)) and bleedin" ti#e are $oth a)normally long7 , 4istocetin cofactor assay good "or "unction* also P.A-100 6platelet "5n analyRer7 , se DDAVP to simulate v<F release "rom endothelial cells. may also need cryoprecipitate 6)ut canPt )e virally attenuated* so give !G9 va5 @rst7 Vita#in 7 deFciency' II* 9II* IC* C and proteins C/S need vitamin F+ , Cystic Fbrosis or ab(-induced su!!ression of intestinal bacteria 6(hich produce vitamin F7 , 'e#orrha"ic disease of the newborn can happen i" no I& vitamin F given at )irth Coa"ulo!athies' .actor V %eiden+ !rothro#bin 20210A+ !rotein CS deFciencies increase throm)osis ris? Naundice I bilirubin Neonatal 6aundice' "or "ull:term in"ants* pea?s at 5-B #"d% )bili )et(een 2nd and 3th days 35 o" li"e , I" in 0st /Kh* wor@ u!8 erythro)lastosis "etalis* hemorrhage* sepsis* C&9* ru)ella* congenital to5o , Can cause @ernicterus i" uncon6 bili too high X sepsis:li?e s5* apsphy5ia* hypoglycemia* intercranial hemorrhage X Deposits in )asal ganglia. increased in immature / sic@ infants* also (ith SEY 6displace "rom al)7* acidosis 6reduces )iliru)in )inding7* se!sis 6)lood:)rain )arrier more permea)le7* hy!oalbu#ine#ia 6less al)umin to )ind7 , Photothera!y converts uncon6 bili into e(tractable for#+ X I" no hemolysis* phototherapy "or 8)ili 0M:0U A /K:Q/h* 8)ili H/1 at HQ/h X DonPt do phototherapy "or con6u"ated hy!erbili 6(ill bron9e the s@in & not help7+ , ,(chan"e transfusion rarely needed 6i" no response to conservative measures7 , se no#o"ra#s ris@ stratiFcation curves to guide therapy+ &reastfeedin" Naundice' mani"ests in Frst wee@ of life 6K:Qd7 , caused )y insuXcient !roduction or inta@e o" breast #il@ ::H not enough stimulation o" )o(el movements to remove )iliru)in "rom )ody &reast Eil@ Naundice' /2 )reast "ed "ull:term in"ants get high 6up to I1 mg/d>7 uncon6 bili levels , !appens after Vth day of lifeG (ill decrease gradually i" )reast "eeding continued , can also pause )reast mil? "or 0/:/Kh 6Duic? lo(ering o" )ili7* then restart )reast "eeding ,rythroblastosis fetalis ' increased $GC destruction "rom transplacental maternal %) against in"ant $GCs , #resents (ithin 0st /Kh. direct Coom)Ps positive *ilbertDs syndro#e' negative coom)Ps* n>/lo( !)* n>/high retic* hyper)iliru)inemia* uncon6u"ated hy!erbili Cri"ler-Na66ar' de@ciency o" D# glucuronyosyltrans"erase 6severe de@ciency E canPt conJ E hi"h uncon6 bili/ Con6u"ated bili' i" high* thin? obstruction of biliary tree 6e+g+ choledochal cyst7+ , Could also )e biliary atresia or other things that inter"ere (ith e(cretion Necroti9in" enterocolitis' transluminal* mucosal necrosis in !re#ature infantsG sporadic usually , Pneu#atosis intestinalis on %C$ 6)acterial gas production in )o(el (all7 is !atho"no#onic , 4:012 o" 9>G< )a)ies+ See feedin" intolerance (ith bilious as!irates+ abd distention* )lood / heme- stool* can end up in shoc?= >eu?ocytosis* neutropenia* throm)ocytopenia* met acidosis too+ , 85' discontinue feeds & !lace an N* tube to suction+ Give syste#ic ab( I send c(+ Get JBh AY4 to monitor "or pneumotosis* "ree air+ Give =V. "or shoc?+ , <ill need sur"ery i" "ree air seen or necrosis suspected+ I" not* 13d bowel rest & broad ab(+ 36 =##unolo"y =##unodeFciencies Chronic "ranulo#atous d9 #oor supero5ide generation Neutrophils* monocytes canPt ?ill sta!h aureus+ candida+ as!er"illus 6produce catalase7 and *N4s : recurrent in"ections (ith those organisms+ Get N&) <nitroblue tetra9oliu#7 test+ Give daily )EP-SEY & "a##a-interferon !!( %eu@ocyte adhesion deFciency Disorder o" leu?ocyte chemota5is* adherence $ecurrent sino!ul#onary+ oro!haryn"eal+ cutaneous in"ections 6Staph* Entero)acteriacea* Candida7+ Delayed (ound healing+ .ailure of u#bilical cord to se!arate+ Neutro!hilia 6H41?7+ SC=D %ut:rec or C: lin?ed &oth humoral & cellular immunodec+ Decr+ seru# ="+ )-cells0 )hy#ic dys"enesis $ecurrent cutaneous* GI* pulm in"ections (ith o!!ortunists 6C&9* #C#* "ungi7+ Death in @rst 0/:/K mo unless &E) per"ormed Di*eor"e //D00 microdeletion Decreased )- cell production $ecurrent in"ections 68:cell' thin? !I9 type in"ections7 %lso velocardiofacial mani"estations' a)normal facies 6(ide:set eyes* prominent nose* small mandi)le7* cleft !alate+ VSD / tetFal+ )hy#ic / !arathyroid dysgenesis E hy!ocalce#ia* seiRures+ CA)C'-22 6cardiac* a)normal "acies* thymic hypoplasia* cle"t palate* hypocalcemia on chromosome //7 :is@ott Aldrich poor %) response to capsular polysaccharides* 8:cell dys"unction 6co#bined &I)/ Y-lin@ed rec (ith increases in serum ="A+ =", Classic triad8 10 )hro#bocyto!enia 604:I1? (ith small plts7 20 ,c9e#a 20 4ecurrent infections <Pneu#ococcal otitis media* PNA "rom poor %) response to capsular polysacch. fun"al / viral )y )-cell dys"unction7 Y%A ' C:lin?ed agammaglo)uline mia 6 &rutonDs 7 #rimary &-cell deFciency 6all I classes o" %) decreased7 #resents after 2 #onths o" age 6momPs %) go a(ay7 4ecurrent / si#ultaneous )outs o" otitis media* PNA* diarrhea* sinusitis at diferent sites )ut not "ungal or viral in"ections Co##on Variable i##unodeFcien cy 'u#oral &- cell 'y!o"a##a"lobuline#ia 6lo( ="A* ="*7. inherited disorder. less severe in"ections than C>% Selective ="A deFciency 'u#oral Eildest* most co##on immunode@ciency+ Normal levels o" other anti)ody classes+ viral response OF )ut 37 suscepti)le to bacterial infections of res!+ *=+ urinary tracts Nob syndro#e disorder o" !ha"ocytic che#ota(is Elevated =",* ec9e#a-li@e rash* recurrent* severe sta!h in"ections Ata(ia- telan"iectasia varia)le humoral & C&I de"ects i##unodeFciency+ cerebellar ata(ia+ oculocutaneous telan"iectasia : most pts (heelchair )ound )y pu)erty* die prematurely Co#!le#ent de@ciency C5-CS 6terminal CP7 is classic "orm N0 #enin"itidis infections? %lso higher ris? o" rheu#atolo"ic disease )estin"8 , assess &-cell function )y loo?ing at Ab titers against tetanus+ di!theria+ !neu#ococcus a"ter va5 , assess )-cell function )y loo?ing at D)' reaction , la) testing too "or titers* cell sorting* etc Dru" eru!tions Eorbillifor# #aculo!a!ular* coalescing rash* especially truncal / centripetal )y!e =V V hypersensitivit y 6not immediate7 e+g+ a#o( aller"y* also a"ter adeno+ ,&V* other viruses )(8 Sto! ab(+ can give antihista#ines i" reDuired 5rticarial =##ediate erythe#a* vasodilation* raised lesions (ith central clearing & ser!i"inous border* dermographia* transient evanescent 6gone in I1m7* #ove around )y!e = hypersensitivit y 6mast cells* histamine release7 e+g+ i##ediate dru" eru!tions* can also )e viral 6& last "or (ee?s=7+ Food* ne( e5posures are less common 85' stop a)5* antihista#ines ,rythe#a #ultifor#e Fi5ed* tar"etoid* acral lesions. center can loo? necrotic+ Pal#s soles too* can have arthral"ias0 V-10d a"ter e5posure 6not immediate7 )y!e === hypersensitivit y 6anti)odies=7 Can also )e "rom 'SV Can deposit in Joints* (onPt (al? ;Seru# sic@ness- is a more systemic "orm SNS),N Gig bullae* )ig* ;at #acular lesions* then bullae+ involves #ucous #e#branes %nti)ody independent SNS i" 3 10P )ody sur"ace* ;overla!- i" 01:I12* ),N i" H 20P Dru"s can trigger* also #yco!las#a D4,SS Dru" eru!tion with %y#!hocytic U:012 mortality+ Give steroids+ 38 eosino!hilia I syste#ic s( #apular* "ollicular rash. eosinophila* leu?openia. can get hepatitis* pneumonitis* lea@y ca!illaries --L ede#a mediators =V=* ''V-B+ sulfona#ides ?ey 'y!ersensitivity A )y!e =8 anaphylactic reactions+ O"ten IgE mediated+ Gasophils* vasoactive su)stances li?e histamine* etc+ A )y!e ==8 %):mediated cellular cytoto5icity A )y!e ===8 Immune comple5es A )y!e =V8 D8! 68:cell mediated7+ S?in tests 6#CN* cara)apenems7* etc+ Ana!hyla(is' , I" voice is changing* worry about the airway? Esta)lish the %GCs )e"ore everything else= , Then consider su)Y epinephrine* diphenhydramine* etc+ 'ereditary an"ioede#a' usually inherited C1 esterase inhibitor de@ciency+ Aller"ic rhinitis' usually doesnPt present til 5-B years old 6i" younger* thin? infectious rhinitis / sinusitis7 =nfectious Disease S)=s 5rethritis8 A *onoccocal urethritis' a BdripT : dysuria* mucopurulent urethral discharge* oropharyn5/s?in too W /:4 days incu)+ D5 (ith urine PC4 or c5 on 8hayer:&artin agar. can also s(a) , 8reat (ith =E ceftria(one ( 1 or oral ce@5ime , Chla#ydia urethritis' a BdripT : dysuria* mucoid discharge. d5 )y #C$* 4:01 day incu)+ , Other non:gonoccocal urethritis : ureaplasma* mycoplasma genitalium , 8reat (ith a9ithro#ycin ( 1 or 0 (ee? o" do5y / eryrthro , DD5'candidal balanitis 6uncirc )oy (ith (hitish overgro(th. r5 clotrimaRole topical7* in$a#ed condylo#a , $emem)er P=D after *Cchla# : "ever* cervical motion tenderness* lo(er a)d pain* discharge* dysparenuria* irregular menstruation : consider in se(ually active wo#an (ith adne(al or cervical tenderness+ fever+ dischar"e+ irregular periods* elevated ES$/C$# X )reat (ith ceftria(one (16GC7 T do(ycycline ( 13 or aRithromycin 6chlamydia7* can also add clinda "or anaero)es X .it9-'u"h-Curtis syndrome' ascending pelvic in;ammation o" liver ca!sule+ 39 dia!hra"#+ #atient (ith 4%M and 45M pain 6over gall)ladder7 : #ID - liver pro)lems 'PV' B+11 cause warts. 1B+1S cause cervical cancer %*V' Painless "enital !a!ule ::H resolves ::H unilateral drainin" in"uinal ly#!hadeno!athy A caused )y C0 trach seroty!es. can )e culured. also serologic testing Chancroid 6'0 ducreyi78 small papules on genitalia* perineum ::H pustular ::H erode ::H ulcerate. at the sa#e ti#e 6not a"ter li?e >G97 develop !ainful tender in"uinal ly#!hadeno!athy 6you Bdo cryT7 , Get PC4 or D.A0 !ard to culture. can use chocolate agar )ut only M42 sensitive Sy!hilis' spirochete 8+ palladium* d5 (ith 4P4 VD4% 6)ut high "alse:pos7 con@rmed (ith .)A- A&S , Stage 08 !ri#ary sy!hilis + See chancre 6(ell demarcated* @rm* !ainless ulcer (ith indurated )ase7+ !eals spontaneously (ithin I:M (?s 6may not see? medical attn7 , Stage /' secondary sy!hilis 60/I untreated pts7+ disse#ination ::H erythe#atous rash on !al#s soles & condylo#a lata 6(art li?e lesions on genitals7 , Stage I' tertiary sy!hilis' "u##as 6granulmoatous lesions7 in s@in+ bone+ heart+ CNS X )abes dorsalis & "eneral !aresis can occur* as can aortic aneurys# o" asc+ aorta+ , 8reat (ith !enicillin * 6I& or I97 "or any stage+ 'SV' usually type /+ 4:0Kd incu)ation* then "enital burnin"+ itchin" --L vesicular+ !ustular lesions that )urst* !ainful shallow ulcers that heal (ithout scarring+ Can lay latent in ganglia* recur+ , See "iant #ultinculeated cells on )9anc@ testin". also #C$ / DF% availa)le+ , 1ral acyclovir can diminish length o" s5 / shedding )ut dont eradicate. can )e used as pp5 to reduce "reDuency o" recurrences )ut doesnt (or? as t5 o" recurrent episodes+ , Neonatal her!es' thin? vesicles on face+ ly#!hocytic #enin"itis 6red cells* lymphocytes* protein elevated. glucose lo(:normal7+ thro#bocyto!enia (ith CNS in"ection signs 6"ever* irriti)ility* etc7+ 'SV ence!halitis in neonates E difuse EEG changes* o"ten serious neuro seDuelae 6maJority7* I12 mortality+ X &ore li?ely (ith !ri#ary #aternal 'SV infectionG most o"ten 'SV-2+ X Get CS. 'SV PC4 I treat (ith =V acyclovir+ X I" mom has h5 genital herpes* and i" prodromal s5 or herpetic lesions present at la)or* do a C-section X I" a neonate has rash c/( herpes* hos!itali9e= 6even i" in diaper area7 Va"inal infections' , )richo#oniasis 68+ vaginalis7 : protoRoa : #alodorous frothy "ray dsichar"e* vaginal dyscom"ort+ See tricho#onads on wet !re!+ 85 (ith #etronida9ole &=D ( V d along (ith se5 partners , &acterial va"inosis 6Gardnerella vaginalis* others7+ 8hin* white+ foul-s#ellin" dischar"e that emits Fshy odor (hen mi5ed (ith FO! 6whi> test7+ Se5ually active 40 "emale* see clue cells on (et prep 6sDuamous epithelial cells (ith smudged )orders "rom adherent )acteria7+ 85 (/ #etronida9ole &=D ( Vd , Va"inal candidiasis' not an S8I. increased (ith a)5 use* pregnancy* dia)etes* immunosuppresion* OC# use+ See yeast and pseudohyphae on (et prep / FO!. use oral $ucona9ole or O8C anti"ungal creams+ 41 Con"enital =nfections' )14C' 6)o5o* 1ther : 9b9 / syphilis* 4u)ella* Cytomegalovirus* 'S97 Features 8reatment Comments CEV developmental delay* =5*4 6microcephaly7* cataracts* sei9ures* he!atos!leno#e"aly* prolonged neonatal Jaundice* !ur!ura at )irth+ !eriventricular )rain calci@cations+ [Gancyclovir 6not great data7+ Get newborn hearin" screen 6and repeated evaluations7+ 7ee! away fro# !re"nant healthcare wor@ers+ &ost common i" !ri#ary CEV in"ection in 1st tri#ester0 6In reactivation* #aternal ="* crosses placenta / protects )a)y7 )o(o Same as C&9* pretty much+ !yri#etha#ine I sulfadia9ine. can use corticosteroids "or ocular* CNS dR as (ell+ )rain calci@cations scattered throughout ct5+ Only congenital i" !ri#ary #aternal infection 6cat feces* undercoo?ed meat7 4ubella ,yes8 cataracts* retinopathy* microphthalmia* glaucoma+ ,ars' sensorineural hearing loss+ 'eart' #D%* peripheral pulmonary artery stenosis+ S@in8 blueberry #uXn )a)y+ %lso IG$* hepatomegaly* throm)ocytopenia* interstitial pneumonitis* radiolucent )one dR No s!eciFc antiviral thera!y availa)le+ )a)ies contagious until 0 year o" age+ transplacental viral transmission+ $are 6&&$ vaccine7+ DonDt "ive EE4 vaccine durin" !re"nancy 6very lo( ris? )ut can get "etal dR7+ 'SV Disseminated dR in multiple organs 6liver / lun"s7+ !S9:0' localiRed CNS disease (/ or (/o s9. !S9:/' o"ten s@in+ eyes+ #outh+ Acyclovir &ost !S9:/ 6re;ects genital herpes rates7. in"ected through vaginal canal 6most is actually perinatal7+ VUV Con"enital varicella syndro#e i" 3 /1 (?s7 : li#b hy!o!lasia+ cutaneous scarrin"+ eye / CNS a)normalities Neonatal chic@en!o( i" H /1 (?s' "enerali9ed !ruritic vesicular rash -: )act superin"ection* PNA+ CNS involvement 6cerebellar ata(ia & encephalitis7* throm)ocytopenia VU =*8 i##ediately after delivery i" momPs chic?en po5 starts win 5d of delivery* or i##ediately on d( i" chic?en po5 started (ithin /d a"ter delivery+ Can give acyclovir ( 10 d i" acute varicella in 0st (ee? o" li"e+ =solate i" neonatal chic?enpo5 6not congenital varicella syndrome7+ Sy!hilis <ithin 0 month o" )irth' hepatosplenomegaly* mucocutaneous lesions* 6aundice+ %AD+ snu^es 6)loody* mucopurulent discharge7+ >onger:term seDuelae' saber shins+ anemia* throm)ocytopenia* 'utchinson teeth+ deafness+ E4+ Get an %P+ CS. VD4% to diagnose* give !arenteral !enicillin * <=V or =E/ &om (ith untreated in"ection ::H transplacental in"ection+ &ost li?ely during 0st year o" in"ection+ 412 die shortly )e"ore / a"ter )irth Also '=V8 remem)er to get PC4+ not relying on a) tests in ?ids (ho still have momPs IgG=+ *&S' , ,arly' thin? PNA 6sepsis too7 42 , %ater8 thin? osteo#yelitis+ #enin"itis+ se!tic arthritis 6places (here it needs to seed @rst=7 CA-E4SA treatment' )EP-SEY or Clinda i" H 4 cm. =ID and observe i" 3 4 cm %y#e disease treatment' , Do(y "or less severe mani"estations' acute arthritis* erythema migrans* "acial palsy* peripheral neuropathy , Ceftria(one "or severe mani"estations' #enin"itis+ carditis .ood !oisonin"' , S0 aureus8 i##ediate reaction to "ood , Co(sac@ie' lesions in the oropharyn5 , &0 cereus' rice , Adenovirus' i" respiratory s5 along (ith GI* conJunctivitis , 4otavirus' should have )een e5posed )y /:I years old+ Can get really hi"h fevers+ febrile s9+ 4ashes etc fro# infections , Eeasles8 con;uent* erythematous* maculopapular* ;buc@et of !aint- rash 6head ::H toes7 along (ith cory9a+ cou"h+ con6unctivitis+ 7o!li@ s!ots on )uccal mucosa+ X Complications include #N%* myocarditis* encephalitis* SS#E , Eu#!s' No rash* )ut swollen salivary !arotid "lands+ X Complications' orchitis+ !ancreatitis+ more rarely #enin"itis+ ence!halitis , 4ubella' sore throat+ cou"h+ lo(:grade fever* then s(ollen subocci!ital I !osterior auricular ly#!h nodes and difuse sal#on-colored rash. tender s(elling o" #ulti!le lar"e I s#all 6oints X $ash loo?s li?e measles )ut doesnDt coalesce , 4oseola' From ''V-B0 'i"h fever+ (hich then resolves* and #aculo!a!ular rash appears+ X Can cause "e)rile seiRures in "ever stage+ , ,rythe#a infectiosu# 6B.ifth disease-* "rom !arvo &1O/+ ;sla!!ed chee@s- rash* then reticular rash spreading out to e5tremities+ X Can cause transient a!lastic crisis in ?ids (ith !) pro)lems 6e+g+ SCD7+ , Varicella' dew dro!s on rose !etals* not on palms/soles 6can have some oral lesions7* di>erent sta"es0 X Q:/0d incu)ation* #ost conta"ious 6ust before rash* isolate until all crusted X Vaccine efective+ Can give acyclovir i" chronic !ul# d9+ L 12+ on salicylates steroids X 9s s#all!o(* (hich has sa#e-a"ed lesions , 'and-foot-#outh' "rom co(sac@ie A1c+ X Incu)ation 3-Bd+ 1w@ rash+ 1-2d !rodro#e 6"ever* anore5ia* sore throat7 X 'er!an"ina : ulcerated vesicles on tongue* !osterior !haryn( X Di>use vesicles !ustules !a!ules on erythe#atous base on hands+ soles and hard !alate , 4oc@y Eountain S!otted .ever' "rom $ic?ettsia ric?ettsii* gram:neg intracellular )acterium+ #roli"erates inside endothelial cells ::H throm)osis* increased vascular 43 permea)ility+ !ighest )et(een A!ril Se!te#ber in south %tlantic states. tic?:)orne illness+ X See fever+ 'A+ rash Qd a"ter tic? )ite. nonspeci@c s5 then rash on 2-5th day (ith blanchin"+ erythe#aouts+ #acular lesions that progress to !etichiae+ !ur!ura starting on wristsan@les and spread pro5imally to head trun@ over several hours. !al#s soles involved too+ X 8reat (ith do(ycycline in all ages , %y#e' Gorrellia )urgdor"eri. @rst see erythema migrans I:I1 days a"ter )ite+ X ,arly disse#inated 6days/(?s7 E multiple erythema migrans* CN palsies* meningitis* carditis X %ate 6HM(?s7 : arthritis 6usually ?nee7 X 8reat (ith do(ycycline i" H U years old. oral a#o( or cefuro(i#e "or ?ids 3 U 6canPt use do5y7 \ I" vomiting* arthritis* cardiac dR* neuro involvement : use =V PCN * or ceftria(one , Eolluscu#' !early lesions (ith central u#bilication. can )e in linear arrangements X Spontaneous resolution over months / yrs. can currette )ut can dis@gure* conta"ious , 'SV' con;uent !ustules+ blisterscysts+ hy!o!i"#ented on erythe#atous base* o"ten on ver#illion border o" lip* can )e erythe#atous ede#atous X V0 presentation is "in"ivosto#atitis 6in anterior #outh7. can autoinoculate X I" ocular or near eye* get $uoroscene e(a# "or 'SV @eratitis (ith o!tho X 4ecurs (ith stress : consider oral acyclovir (hen Just tingling 6prodromal phase7 , =#!eti"o' honey colored* "ria)le / crusting lesions. can have bullae / )listers 6)ullous impetigo7 X &ost commonly S0 aureus* also *A&'S X 85' @ee! clean* can use to!ical ab( i" local* ce!hale(in au"#entin clinda i" wides!read , Scarlet fever' sand!a!er rash* strawberry tongue* desJua#ation o" !al#s soles* !alatal !etichiae 6most sensitive @ndings7* can have !urulent !haryn"itis or Just )e asy#!to#atic X From *A&'S+ O"ten have fever+ 'A+ abdo#inal !ain 6classic "or strep* very severe* on api dd57 X Eost conta"ious (hen in acute !hase Pharyn"itis I related stu>' *A&'S ;stre!- !haryn"itis' sore throat* "ever* !/%* malaise* nausea* a)d pain+ e5udative tonsils* tender cervical lymphadenopathy* may have petichiae on so"t palate , Get ra!id test 6speci@c. rare "alse positives* )ut not great sensitivity : so conFr# ne"ative with c(/ , 8reat (ith 10d of oral PCN or =E ben9athine PCN * ( 1+ Can also use erythromycin* aRithromycin* clindamycin i" allergic+ No resistance to #CN documented+ *A&'S associated stuf' , Scarlet fever ' erythematous sand!a!er rash on nec?* a5illae* groin* spreads to e5tremities* starts along (ith pharyngitis & can desDuamate 01:0Kd later 44 , Acute rheu#atic fever ' occurs 1 w@ a"ter strep pharyngitis' carditis+ #i"ratory !olyarthritis+ transient <Sydenha#/ chorea+ erythe#a #ar"inatu#+ subcutaneous nodules. must "ull@ll Wones criteria' t(o o" a)ove* or one o" a)ove BmaJor criteriaT along (ith one o" "ever* arthralgia* elevated C$#/ES$* prolonged #$ on EFG+ %lso need evidence o" recent G%S in"ection 6c5* rapid antigen* AS1 titer/ X Give PCN !!( to prevent recurrent %$F , APS*N' glomerulonephritis a"ter either !haryn"itis or celllulitis (ith G%G!S X Not afected )y timely a)5 therapy X 10 days after infection' see he#aturia+ ede#a+ oli"uria+ ')N (ith low C2 X Give PCN I diuretics. steroids donPt help* most recover Just @ne+ Nec@ abscesses8 A 4etro!haryn"eal abscess8 usually in toddler 3 Ky' odynophagia* "ever* posterior pharyngeal s(elling* W Passively refuses to #ove nec@ /// pain : more li?ely retropharyngeal W can s!read to #ediastinu# 6)ad ne(s7 , Peritonsillar abscess' any age* )ut o"ten in adolescent youn" adultG most common a)scess in peds pts X Sore throat* odynophagia. tris#us 6re"usal to open mouth7 more common than retropharyngeal , Get lateral cervical (-ray , etiologies' stre! !yo"enes+ sta!h s!!+ h0 $u+ !e!tostre!tococcus+ bacteroides+ fusobacteriu#+ X O"ten !oly#icrobial X Can also )e viral 6EG9* C&9* adeno* rhino7 , 8reat (ith =V PCNs+ 2rd "en ce!halos!orins+ or carba!ene#s X add clinda or #etronida9ole i" concern "or anaero)es as (ell , DD5 also includes thryro"lossal duct cyst 6midline* moves (ith mouth opening7 or 2nd brachial cleft cyst 6lateral7 )ooth abscess' can )e stre! #utans+ fusobacteriu#+ , Give ab( 6amo5 or clinda7 & get to dentist (ithin ne5t KUh ,&V' remem)er that Eonos!ot hetero!hile Ab test doesnPt (or? (ell "or youn" @ids K 3 6get speci@c %) test7 1titis I related conditions Co##on A1E or"anis#s' S0 !neu#o* nontypa)le '0 $u+ E0 catarrhalis+ , S+ aureus* E+ coli* ?le)siella* #seudomonas i" neonate or immunode@cient , 9iruses too. etiology o"ten un?no(n+ , 8reat' high dose amo5 ::H augmentin in Id i" no improvement , &ay need tympanocentisis* c5 o" middle ear ;uid i" treatment resistant+ , I" a youn" child 6e+g+ 0 mo7* (ith A1E* need to ad#it to hos!ital "or se!sis wor@u! 6i" "everish* irrita)le* diarrhea* etc7 1titis e(terna 6BS(immerPs earT7 : o"ten Pseudo#onas or other GN$s* S0 aureus+ occasionally candida / asperg+ 45 , Consider in ?id (ho (as at summer camp* e5posed to (ater* etc+ , 8reat' topical !oly#y(in corticosteroids #i(ture Eastoiditis' #inna pushed "or(ard* "ever* ear pain* s(elling/redness )ehind ear a"ter %O& , D5' get C) "or con@rmation+ 85' #yrin"oto#y+ $uid c(+ !arenteral ab( 6surgical drainage i" no improvement in /K:KUh7 Cholesteato#a' congenital or acDuired 6eg recurrent otitis7. small sac (ith epithelium containing de)ris+ , <hitish mass protruding through tympanic mem)rane seen on otoscopy , Can cause CNS complication / gro( aggressively : re"er to EN8* C8 temporal )ones+ 4es!iratory infections %un" Fndin"s' , Staccato cou"h' (ith crou! or chla#ydial PNA , ,osino!hilia' thin? chla#ydial , &i!hasic stridor 6insp & e5p7 and hi"h fever : thin? bacterial tracheitis X O"ten viral $I s5 @rst* then rapid increase in temperature* resp distress (ith secondary )act+ in"+ X Fids loo? to5ic= intubate I use =V ab( X DD5 includes epiglottitis* etc+ Pertussis' B<hooping coughT in neonates* in"ants 6nonspeci@c $I in adolescents & adults7 , Spread via aersoliRed droplets "rom coughing+ !ighly in"ective i" unimmuniRed+ Immunity "rom va5 (anes+ , Course' X Q:01 d incu)ation* then catarral !hase 6lo( grade "ever* cough* coryRa7* then X 2-B w@ !aro(ys#al !hase 6whoo!in" on deep* sudden inspiration during intense coughing spasm7* posttussive emesis* can get facial !etechiae+ scleral he#orrha"e "rom "orce"ul coughing+ aoung in"ants canPt (hoop 6canPt develop enough inspiratory "orce7 X >ast* convalescent !hase "or /:U (?s , %abs8 see si"niFcant ly#!hocytosis* can get NP swab D.A PC4 to detect , 8reatment' hos!itali9e youn" infants+ Can use erythro#ycin to shorten duration o" illness6)ut only in catarral phase7* i" given later* (ill reduce in"ectivity+ Give erythro#ycin !!( to household daycare contacts irrespective o" their immune status+ , neonatal immunity not de!0 on momPs immune status 6trans!lacental Ab not 100P !rotective/ X natural immunity is li"elong* )ut immunity "rom va5 declines (ith age 6use 8dap instead o" 8d7 X I" e5posed* give erythro#ycin to prevent / lessen severity o" disease 6in !re!aro(ys#al sta"e/ Crou!' ?ids B-2B #onths (ith sudden onset o" hoarse voice+ seal-li@e bar@in" cou"h+ ins!iratory stridor a"ter progdrome o" 0/:0Kh "ever* rhinorrhea. respiratory distress can 46 develop also+ A Para$u is [1* also $S9 / ;u A Classically stee!le si"n on %# nec? / chest radiograph 6su)glottic tapering7 )ut 3 412 sensitive A 8reat' cool #ist+ race#ic e!i ne!bs+ =V corticosteroids+ ,!i"lottitis' classically ! ;u G* no( can )e strep pneumo+ Fids loo? to5ic* drooling* tripoding* thum) sign+ , $eDuires e#er"ent intubation & I9 a#!-sulbacta# or 2rd "en ce!halos!orin emprically+ &ronchiolitis' viral >$8I in"ection* usually 4SV 6also para;u* h	* ;u* adeno7 )et(een Nov I A!ril , Classically youn" @ids 6/:4 months most hospitaliRed7. also preemies* C>D* etc+ (/ "amily mem)ers (/ $I , $S9 ma?es a syncitu# o" the ciliated epithelial cells. in;ammation* plugging results+ , !ave fever+ tachy!nea+ varia)le res! distress* o"ten (ith whee9in"+ ronchi* cra?les* etc+ X CC$' hy!erin$ated+ !eribronchial thic@enin" <;cuXn"-/+ increased interstit+ mar?ings X >asts 5-10 days+ then recover over 1-2 wee@s+ , 8reat' su!!ortive* mostly outpatient+ Corticosteroids* )eta:agonists not help"ul 6)ut i" not sure i" @rst:time asthma* o"ten may try in ED "or a course7+ se !alivi9u#ab 6monoclonal $S9 %)7 "or passive pp5 in ?ids at ris? 63/ yr old e5 preemies* ?ids (ith C>D needing o5ygen7* etc+ PNA <%4)=/ or"anis#s First "e( days o" li"e A ,nterobacteriaceae+ *&S are )ig t(o A %lso S0 aureus+ S0 !neu#o+ %isteria First "e( months A C0 tracho#atis 6staccato cough* tachypnea* -/: conJunctivitis or maternal h5. eosino!hilia* bilateral inFltrates (ith hyperin;ation* may )e a"e)rile7 A Viral #N%' 'SV 6most concerning. thin? acycolvir=7* enterovirus* in;uenRa* $S9 % "e( months : 4 yrs , Viral #N% is )ig' adeno+ rhino+ 4SV+ $u+ !ara$u , Gacterial' thin? S0 !neu#o+ non-ty!able '0 $u H 4 yrs , Eyco!las#a is most common : thin? a9ithro#ycin or cephalosporins , Could also )e most o" the a)ove* e5cept listeria & GGS IC / intu)ated Consider !seudo#onas & candida Chronic lung dR 8hin? !seudo#onas+ as!er"illus Other clues' , 8ypical rash : thin? varicella , 4etinitis : thin? CEV 47 , Sta"nant water : thin? %e"ionella , $e"ractory asth#a or fun"al ball - thin? As!er"illus , 8ravel to southwest : Coccidiodes i##itis , 8ravel to or (or?ing on far# - Co(iella brunetti , S!elun@in"* (or?ing on "arm east o" $oc?y &tns : 'isto!las#a )rea#ent basics' , Outpatient' usually hi"h dose a#o( or au"#entin+ X Can use a9ithro#ycin i" B(al?ing #N%T 6mycoplasma* c+ pneumo7 suspected X Give a9ithro#ycin "or C0 tracho#atis #N% in in"ants , !ospitaliRed' use I9 a)5 X 3 /U days' a#! I "ent to cover GGS* etc+ 8hese ?ids get hospitaliRed 6r/o sepsis7 X 0 mo:Imo' ceftria(one T- #acrolide X K mo:Kyrs' ceftria(one T clinda 6s+ pneumo* [&$S%7 X 4:04yrs' #acrolide T- ceftria(one T- clinda 6atypicals* s+ pneumo* [mrsa7 X A#!sulbacta#+ clinda+ ceftria(one+ a9ithro#ycin+ vanc may )e needed+ S0 aureus #N% can cause tension P)Y 6via to5in ::H rupture o" alveoli7+ , &ostly associated (ith e#!ye#a though : (hich you canDt drain 6r5 (ith vanc=7 , Can also cause !leural e>usion Pneu#ococcal #N%' o"ten (ith sudden onset o" fever+ cou"h+ chest !ain , Can "ail outpatient therapy i" amo5 6need hi"h dose PCN+ cefuro(i#e+ a#o(clav+ or even vanc=7 Se!sis8 , ,arly:onset 60st M days7' thin? birth canal 6*&S+ '0 $u+ ,0 coli+ %isteria7 X 8reat (ith a#!"ent , %ate:onset 6Qd:^1d7' thin? environ#ent <coa"-ne" sta!h* S0 aureus+ ,0 coli+ 7lebsiella+ #seudomonas* Entero)acter* Candida* GGS* Serratia* %cineto)acter* anaero)es/ X 8reat (ith vanc 2nd or 2rd "en ce!halos!orin <vanccef+ etc/ , *&S is V0 cause sepsis in 0st I months. U12 are early onset 6septicemia* #N%* meningitis7 "rom vert trans X O"ten see resp signs @rst' a!nea+ "runtin"+ tachy!nea+ cyanosis in U12* hypotension in /12 X 412 develop seiRures (ithin /Kh+ X %ssociated (ith !rolon"ed ru!ture of #e#branes+ a!nea+ hy!otension in 0st /Kh li"e* AP*A4 K 5 C 1 #in* rapidly progressing pulmonary disease+ ,arly *&S8 increased ris? (ith $1E L 1Sh+ chorioa#nitis+ intrapartum 8 H IUC* previous GGS- in"ant* young mother 3 /1* >G< or prematurity X #revent (ith screenin" C 25-2V w@s "estation+ se intra!artu# ab( i" needed+ , %isteria' gram - rod* rare in"ections in S%* "rom so"t cheeses mil?* undercoo?ed chic?en* hot dogs* etc+ 48 X %cDuried transplacentally or )y aspiration/ingestion at )irth X &rown-stained a#niotic $uid* "e)rile mom* erythematous !ustular rash on )a)y* pallor* poor "eeding* tachypnea* cyanosis* E1N1CQ)1S=S on C&C* I12 mortality "or early onset dR Eenin"itis 1r"anis#s by a"e of !atient8 K 1 #o Seeding "rom mom' *&S+ ,0 coli+ *N4s+ 'SV+ %isteria+ %lso strep+ pneumo 1-2 #o ,0 coli+ S0 !neu#o* enteroviruses* !iG* GGS 2#o-By S0 !neu#o+ N0 #enin"itidis+ enteroviruses* borrellia bur"dorferi* !iG LB S0 !neu#o+ N0 #enin"itidis+ enteroviruses* borrellia bur"dorferi A 4arely could )e due to )&+ ,&V+ bartonella+ cry!tococcus too A N0 #enin"itidis' may see !etechial !ur!uric rash as (ell+ CS. in meningitis <GC #&Ns #rotein Glucose Gacterial H 0*111 H Q42 9ery high 9ery lo( 9iral 3 411 3 412 6more lymphs7 Normal / high Normal >yme 3 011 3 I12 6lots o" monos7 Normal / high Normal Eenin"itis treat#ent 6i" )acterial7 , &ost ?ids' Vanc T ceftria(one. use steroids too , Neonates' a#!icillin 6GGS* >isteria7 & ceftria(one 6GN$s7 , Start (ith a)ove empiric treatment "or 10-13dG narro( (ith c5 X 8reat #enin"ococcal dR "or 5-Vd+ %y#e "or 13-2S+ and neonates "or 13-21 , 10P o" ?ids have !ersistent neuro deFcit 6hearing loss* dev delay* motor pro)s* sR* hydrocephalus7 %P8 contraindications include increased =CP in patient (ith closed fontanelle 6can herniate7* severe cardiores!iratory distress+ s@in infection at puncture site* severe thro#bocyto!enia or coa"ulation disorder 6ooRing I9* venipuncture sites7+ *astroenteritis <bacterial/ note: enteritis * small $o#el, colitis * large $o#el A Sal#onella' aero)ic GN$* motile* no lactose "ermenting* more common in war#er #onths W "astroenteritis* meningitis* osteomyelitis* )acteremia E non:typhoidal presentation \ *astroenteritis' nausea* emesis* cramping a)d pain* (atery/)lood diarrhea* sudden 49 \ )y!hoid "ever "rom salmonella t"phi too W Need to ingest many organisms E person:person unli?ely W Can have some neuro s5 (ith gastroenteritis W no ab( for sal#onella? can increase ris? o" '5S+ Gut treat i" immunocompromised / 3 Imo 6higher ris? o" disseminated disease7 A Shi"ella' small GN$s* nonlactose "ermenting* motile W more common in (armer months / Frst 10 years o" li"e 6pea? /:I yrs7 W Only ta?es a "e( organisms 6!erson-!erson trans via "ood* (ater7 W Cramping a)d pain* (atery diarrhea progressing to small* )loody stools* anore5ia \ can have neuro Fndin"s too 6h/a* con"usion* hallucinations7 )ut meningitis in"reDuent \ peripheral (hite count o"ten normal )ut (ith bi" ti#e left shift 6bands L !olys/ W Can "ive ab( "or Shi"ella 6sel":limited )ut decreases disease course* organism shedding7 A Ca#y!lobacter A ,0 coli 6E!EC' can cause )loody diarrhea )ut o"ten (ith no fever. EIEC E no )lood/ W Culture on EacCon@ey sorbitol to diagnose O04Q'!Q A Qersinia a/( reactive arthritis* erythe#a nodosu#+ Can localiRe to 4%M 6Bpseudoappendicitis7 A D5' Get stool c5* "ecal leu?ocytes 6Just indicates in;ammation7 W '5S' in E+ coli O04Q'!Q* [1 cause acute renal failure in @ids : usually younger than K yrs \ &icrothrom)i* microvascular endothelial damage* #icroan"io!athic he#olytic ane#ia & consu#!tive thro#bocyto!enia. also renal "lo#erular disease \ 1-2 wee@s after diarrhea' sudden onset o" !allor+ irritability+ decreased 51P+ can have !etichiae I ede#a* even stro?e sometimes+ A 85' supportive* ;uid / electrolytes+ 4,*5%A4 D=,) L ;&4A)- or clears 6counter:intuitive7 *astroenteritis <Non-bacterial/ 4otavirus "astroenteritis' maJor cause in in"ants / toddlers in <estern (orld+ #ea?s Nan - A!ril , #ro"use diarrhea* vomiting* lo(:grade "ever. can lead to electrolyte distur)ances+ Supportive care+ *iardiasis' most common intestinal parasite in S%+ $elated to water Juality , FreDuent* foul-s#ellin"+ (atery stools (ith blood #ucus* a)d pain* N/9* anore5ia* $atulence too , O"ten resolves 4:Q days+ Give #etronida9ole+ Co##on na#e Parasite na#e<s/ Source Si"nss( D( )( Ascariasis Ascaris lum)ricoides .ecal-oral &ost as5+ 'e#o!tysis* pulm Stool' see e""s* %l)endaRole* me)endaRole* 50 inFltrates* a)d pain* distension* obstruction occasionally adult (orms in stool or cou"hed u! pyrantel pamoate* piperaRine to clear o)struction 'oo@wor#s Ancyclosto #a duodenale* Necator americanis #enetrate s?in #ruritis* rash A entry site+ Epigastric pain* diarrhea+ Ane#ia "rom )lood loss* res! s( Ovoid eggs in stool &e)endaRole* al)endaRole* pyrantel pamoate* also iron su!!le#ent Pinwor#s ,nterobius vermicularis Ingestion o" egg Nocturnal !erianal itchin" )a!e test 6O&# not use"ul7 #yrantel pamoate* me)endaRole* al)endaRole Stron"yloid s Stron"yloid es stercoralis >arvae penetrate s?in* to lungs* to intestines* can go )ac? & "orth Epigastric pain* emesis* diarrhea* mala)sorption* (t loss >arvae in "eces* or strin" test to sample duodenal ;uid =ver#ectin* thia)endaRole Visceral ocular larva #i"rans )o(ocara spp Egg ingestion 6soil contaminated (ith dog/cat "eces7 : @id eatin" dirt? Fever* cough* a)d pain. he!ato#e"aly* ronchi* whee9in"+ s?in lesions* eosino!hilia Clinical pres* serologic testing* microscopy o" tissue 9isceral' sel" limited+ Ocular' diethylcarba#a9i ne* al)endaRole* me)endaRole 6)ut all drugs can cause in$a##atory r(n?/ :hi!wor#s )richuris trichiuria Egg ingestion Proctitis* )loody diarrhea* a)d pain* rectal !rola!se >emon:shaped eggs in stool &e)endaRole / al)endaRole )richinellosi s )richinella spiralis uncoo?ed !or@* other ra( meat First (?' abd !ain+ NV+ #alaise0 8hen' #uscle invasion8 ede#a of eyelids+ #yal"ia+ w@nss+ fever ,osino!hilia on la)s+ Organisms can )ecome encysted* stay via)le "or years in muscle %e!tos!irosis' V0 Roonotic in"ection (orld(ide , e5posure to dogs* cats* rats* livestoc?* other (ild animals 6urine7 , &ost o"ten su)clinical* can also )e symptomatic* starting (ith Bsepticemic phaseT o" fever+ chills+ ## !ain+ !haryn"itis+ 'A+ con6unctival in6ection+ !hoto!hobia+ cervical adeno!athy* then+++ X anicteric "orm : symptoms resolve* then Bimmune phaseT 6#enin"itic s5 return* can lst "or month7 51 X icteric "orm <;:eil syndro#e-/ : severe s5 (ith liver+ @idney dysfunction , 8reat (ith PCN+ tetracycline 6in children 01-7 5)=s , S5' fever L 2O+ vo#itin"diarrhea+ fussiness in ?ids , At ris@' X Voidin"dysfunction 6neurogenic* (ill"ul/)ehavioral* pin(orm7 X Consti!ation and )ehavioral pro)lems X $ecent antibiotic use , %abs8 X %eu@ocyte esterase ' not speci@c* lo( ##9+ X Nitrites' very s!eciFc 6almost de@nitely a 8I7 , Sterile !yuria' "evers* interstitial nephritis* viral in"ections* appendicitis X Adenovirus can cause a he#orrha"ic cystitis , Ad#it i" theyPre not ta?ing #O+ =V ce!halos!orin is a @rst:line choice "or meds in that case , )o wor@ u! or notH X #retty much (or? up all in"ants admitted to hospital 645S to loo? "or hydronephrosis* presence o" ?idneys* siRe* consider VC5* to loo? "or V54* also scinti"ra!hy : D&S% to loo? at renal tu)ules* or &%G:I to loo? at e5cretion7+ , 'ydrone!hrosis dd5' 5P 6unction obstruction+ uretorocoele <5VN o)struction7* #assive V54 , )reat#ent' X Cystitis' )EP-SEY+ a#!icillin+ a#o(icillin+ nitrofurantoin+ usually treat i" /% suggestive. get c5* d/c a)5 i" negative X Pyelone!hritis' get oral=V ce!halos!orin or =V a#!T"ent until c5 availa)le+ %dmit i" to5ic appearing* canPt do #O* or K B #o "or 01:0Kd &rain abscess' consider especially in ?ids (ith ri"ht to left shunts 6eg 8etFal7+ A fever+ 'A+ lethar"ic+ nysta"#us+ ata(ia+ etc : get a C)E4= Acute 1titis Eedia' Can )e viral 6$S9* para;u* ;u7 or bacterial <S0 !neu#o+ nontypa)le '0 $u+ E0 cat/ , Gulging 8&* erythematous* opaDue* poor light re;e5* decreased mo)ility* acute h( s( , DD5' X 1E,' ;uid 6poor mo)ility o" 8&7 )ut no evidence o" in;ammation 6gray/clear 8&* no s57 X Eyrin"itis' in;ammation o" 8& )ut nor#al #obility* usually (ith viral 54= X 1titis e(terna' ear pain* (orsened (ith manipulatino* canal hurts+ X Eastoiditis' anteriorly dis!laced earlobe* high "ever* tender+ Give =V ab( & may need sur" , 85' X %)5 i" youn"er than 23 #onths+ at ris? "or poor "ollo( up* ill a!!earin"* immunode@cient* or (ith recurrent / severe / per"Pd %O&* give hi"h dose a#o(+ I" no improvement in KUh* au"#entin X I" older than 23 #o and disease not too severe* decide ab( vs !ain control I 52 watchful waitin" \ Can give $5 to @ll in KUh i" no improvement+ X )y#!anosto#y tubes i" 1E, lon"er than 2 #onths 6ris? o" delay o" language acDuisition* hearing loss7* or 3 A1E episodes in B #o 6or 4 in 0/ months7 Vaccination ' , &ild $I* gastroenteritis* lo(:grade "ever not contraindications , %l(ays contraindication' immediate hypersensitivity , 8rue e"" hy!ersensitivity contraindication "or in$uen9a+ yellow fever )ut not &&$ , %ive vaccines usually not given to !re"nant wo#en+ severely i##unoco#!ro#ised X !I9 - OF i" not immunocompromised =nterestin" contraindications 6outside o" the ordinary ones7 , D)aP8 ence!halo!athy (ithin 0 (? o" previous administration , '&V' anaphyla5is to ba@erDs yeast , EE4' anaphyla5is to neo#ycin+ "elatin. also pregnancy* immunode@ciency , =PV' anaphyla5is to stre!to#ycin+ !oly#y(in &+ neo#ycin , Varicella' anaphyla5is to neo#ycin+ "elatin Neonatolo"y AP*A4 ' Score 0 1 2 A!!earance Glue* pale %crocyanosis Completely pin? Pulse %)sent 3011 )pm H011 )pm *ri#ace 6re;e5 irrita)ility to nose suction7 No response Grimace Cough / sneeRe Activity >imp Some ;e5ion o" e5tremities %ctive motion 4es!iratory e>ort %)sent* irregular Slo(* crying Good Start ba"-valve-#as@ i" no res!irations or !ulse K 100? , Chest co#!ressions then i" !$ stays under B0 (ith 0112 O/ , Drug therapy 6e!ine!hrine7 a"ter 20s o" compressions i" pulse still 3 M1 )ransient tachy!nea of the newborn' other(ise healthy "ull:term )a)y (ith tachypnea at Z0h o" li"e , From incomplete evaculation o" "etal lung ;uid in full ter# infants , &ore common (ith C-section* disappears in 23-3Sh of life* can give supplemental o5ygen #$N , Perihilar strea@in" & $uid in Fssures on CC$+ 53 Eeconiu# as!iration syndro#e' aspiration during delivery ::H respiratory distress , hy!erin$ation T !atchy inFltrate on CC$ , Can see air tra!!in" (hich can lead to P)Y+ especially i" you use #EE# , endotracheal intubation T direct suction cem out before thora( delivered 6)e"ore 0st )reath7 X &ay need some iN1 "or !ul#onary ')N 4DS' preemies* sur"actant de@ciency* give cem surfactant+ >ungs mature starting at 22 w@s0 A "round "lass reticulonodular !attern (ith air broncho"ra#s+ decreased aeration on CC$ A %ecithin8s!hin"o#yelin ratio H / is predictive o" good lung development W Eaternal steroid administration can s!eed u! production o" sur"actant. also #$O&* stress* maternal narcotic addiction* preeclampsia* hyperthyroidism* theophyllin W Eaternal diabetes 6"etal hyperglycemia* hyperinsulinemia7 can slow down sur"actant production A Give sur"actant* then decrease FiO/ to reduce O/ to5icity 63M12 FiO/ is )etter7+ &ay need NC / C#%# /vent A!nea of !re#aturity' a!nea L 20 sec 6or (ith cyanosis / s5 or brady K 100 b!#/ , sually mi5ed central / o)structive+d picture+ , DD5 vs !eriodic breathin" 6normal in neonates* in"ants7 : pauses o" 4:01s (ith rapid )reathing a"te(ards , %/( bradycardia 63U1)pm in ne()orn7+ Needs &VE i" hypotonic* pallor+ 8reat )y #aintainin" s@in te#!* supplemental O/* tactile stimulation* cafeine to sitimulate respiratory center+ Eonitor "or ZQd (ithout %/G episode. can send home (ith apnea monitor "or period o" time as (ell+ CD'' herniation o" a)dominal contents* usually > side* leads to pulmonary hypoplasia+ , &ostly left !osterolateral dia!hra"# defect 6&ochdale@ hernia7 A See immediate respiratory distress* scaphoid a)domen* cyanosis* heart sounds dis!laced to right side. di#inished breath sounds on same side A DonDt ba" I #as@ 6)o(el gas accumulates in chest* get (orse7 : =N)5&A),? A DonDt try to put a needle in to aspirate ;uid : you could puncture the )o(el= A DD5 includes con"enital cystic adeno#atoid #alfor#ation' em)ryonic disruption o" )roncihole development* )ig cystic mass IDPd on prenatal ultrasound* causes pulmonary hypoplasia )ut sto#ach I intestines in the ri"ht !lace 1#!halocoele' viscera herniate A u#bilicus into sac covered by !eritoneu#+ a#niotic #e#brane+ , %/( bec@with wiede#ann+ #olyhydramnios in utero+ , &anagement' Do C-section to prevent rupture o" sac+ I" s#all+ re!air+ I" lar"e+ cover (ith prosthetic material* reduce* & repair later 6not a surgical emergency i" sac intact7+ *astroschisis' no sac* herniation o" intestine through a)dominal (all lateral to um)ilicus+ A #olyhydramnios in utero+ &anagement' sur"ical e#er"ency 6put Silastic silo over e5posed )o(el. reduce over days7 54 =V' <intraventricular he#orrha"e/ : especially in V%&: babies* @rst I days o" li"e* many as5+ A D( (ith anterior fontanelle 5S 6all 9>G< should )e screened (ith one7 A &anage )y #aintainin" cerebral !erfusion )ut controlling intracere)ral pressure+ Follo( (ith /S+ '=, 6hypo5ic ischemic encephalopathy7 : )ig cause o" neonatal mor)idity / mortality+ O"ten /// intrapartum event , [1 cause o" neonatal sei9uresG o"ten present (ith severe perinatal deprssion / asphy5ia needing resusc+ , [1 !redictor o" long:term mor)idity E neuro e(a# C 1 wee@ of life 6good i" a)le to ta?e "ull oral "eeds* normal e5am : chances "or "ull recovery very good7+ Euscular torticollis ' nec@ twisted to one side in neonate s/p di_cult delivery 6)ig/)reech7* !al!0 SCE #ass , Get radio"ra!hs to rule out cervical s!ine in6ury )e"ore doing any stretching= , )reat initially (ith !assive SCE strechin"0 Can lead to facial asy##etry i" not ta?en care o"+ , DD(8 X 7li!!el-.eil syndro#e ' con"enital fusion o" portions o" cervical vertebrae* restricted nec? movement* short nec?* low hairline+ %/( S!ren"el defo#ity 6congenital elevation o" scapula7* structural urinary tract a)normalities X Sandifer syndro#e+ *,4D* hiatal hernia* and head !osturin" 6can loo? seiRure li?e7+ Get eso!ha"eal !' !robe to loo? "or re;u5= X Dystonic reaction to meds 6metoclopramide or antipsychotics7 : t5 (ith di!henhydra#ine X %lso retro!haryn"eal abscess+ tu#ors+ dystonia+ :ilson d9+ syrin"o#yelia+ other stuf A!t test' helps distinguish in"ested #aternal blood fro# babyDs blood in neonate with bloody stool , 6"etal hemoglo)in is al?ali resistant7 Sub"aleal he#ato#a' Gleed into suba!oneurotic s!aceG crosses suture lines* e5pands ra!idly can lose )ig )lood volume / get hemodynamically compromised : ta?e to N=C5? Ce!halohe#ato#a' Gleed )t(n s@ull and !eriosteu# 6rupture o" )ridging vessels7. does not cross suture lines Especially a"ter prolonged delivery. usually doesnPt cause compromise* resolves / resor)s can cause indirect hyper)iliru)inemia Ca!ut succedaneu#' Serosanguinous* )et(een scal! I !eriosteu#* crosses suture lines associated (ith !ressure of head a"ainst cervi( 6vaginal deliveries7 So"t* spongy scalp. o)serve only= Goes a(ay on its o(n+ 55 Pro!ranolol is )ad "or )a)y during delivery i" mom ta?es it : baby canDt res!ond to bradycardia. a/( )rady episodes* also apnea / "ailure to develop tachycardia during an asphy5iation in delivery %abs at birth' , S*A infants can have decreased uteroplacental )lood ;o(* placental in"arction : results in fetal nutritional de!rivation+ inter#ittent fetal hy!o(e#ia ::H decrease in "lyco"en stora"e & !olycythe#ia X *lc8 20-30 is normal in "ull:term in"ant in 0st postnatal day X Ca8 decline during @rst /:I postnatal days. only a)normally lo( below V05-S #"d% X 'y!erE"' common (hen mom got &gSOK. as5 or ;oppiness X 'ct L B5P E !olycythe#ia. get increased blood viscosity \ 'y!ervisocity syndro#e' tremulousness* Jitters ::H sR 6sludging* throm)i7. can also lead to !ria!is#+ necrotiRing enterocolitis* tachypnea* etc+ DonDt do !hleboto#y 6(ill incr+ viscosity )y decr+ arterial pressure7. do !artial e(chan"e transfusion (ith saline / lac ringers instead 6)ut only i" !ct H Q1 or symptomatic7 .irst wee@ of life8 , >ose 105-2P body wei"ht per day "or Frst 5 days of life 6e5cess ;uid e5creted7 , 'ct falls 6adaptation to environment o" higher o5ygen7 , &ili rises+ !ea@s around I:4 days o" li"e , Several #econiu# stools in days 0:/* then soft yellow stools 'y!ocalce#ia in ne()orns' see tetany+ sei9ures* etc+ , ,arly 6@rst Q/ hours7 : usually idio!athic hy!ocalce#ia+ Can also )e /// maternal illness 6diabetes+ to(e#ia+ hy!er!arathyroidis#7 or neonatal res!iratory distress+ se!sis+ %&:+ hy!oE" , %ate 6a"ter Q/ hours7 : transient !er#anent hy!o!arathyroidis# (ith hi"h !hos!hate inta@e Cleft li! !alate' 0'0111 ?ids. K2 o" si)s o" afected ?ids+ Can lead to feedin" !roble#s+ recurent otitis+ hearin" loss+ s!eech deFcits 6even (ith good closure7 sually close li! A /:I mo* then !alate )et(een Mmo:4yrs 56 )win-twin transfusions8 042 o" monochorionic t(ins. can cause intrauterine death+ , Suspect i" he#atocrits di>er by L 15 #"d%+ , Donor t(in E lo(er !ct* can have oligohydramnios* anemia* hypovolemia* shoc?+ , 4eci!ient t(in' hydramnios* plethora* lar"er than donor X 'y!erviscosity syndro#e i" !ct H M42 %ow birth wei"ht' %&: 3 /*411g . V%&: 3 0*411. lots o" >G< )irths in S% E (hy (e have high in"ant mortality , From IG$* premature )irth* medical causes S#all for "estational a"e' &: K 10th Pile "or gestational age+ From IG$ or Just statistically small , ,arly-onset =5*4' "rom insult K 2Sw@s gestation+ Sy##etric8 !C* height* (t all proportional+ &om (ith !8N* renal dR. in"ants (ith chromosomal a)normalities* congenital mal"ormations+ , %ate-onset =5*48 "rom insult L2Sw@s+ Asy##etric' nor#al 'C (ith reduced len"th+ wei"htG wei"ht for hei"ht is low* in"ant loo?s long / emaciated+ #lacental "5n "ails to ?eep up (ith "etal reDuirements+ %ar"e for "estational a"e' H^1th2ile or H /SD+ =nfants of diabetic #o#s+ neonates (ith )*A+ erythroblastosis fetalis+ &ec@with-wiede#ann syndromes+ Can also )e constitutional 6)ig parents7+ , Eonitor blood su"ar 6prone to hypoglycemia7. "et 'ct 6prone to polycythemia7 , Eacros#otic E H K*111 6very >G%7 : ris? o" shoulder dystocia+ birth trau#a+ etc0 Post#aturity' H K/(?s+ Dry* crac?ed* peeling s?in* malnourished appearance common at )irth , Can see #econiu# as!iration res! de!ression* PP'N+ hy!o"lyce#ia+ hy!oCa+ !olycythe#ia Polyhydra#nios i" "etus canPt s(allo( 6a)dominal (all de"ects* dia)etes* anencephaly* myelomeningocoele* esophageal / duodenal atresia* diaphragmatic hernia* cle"t palate7 1li"ohydra#nios i" "etus canPt e5crete ;uid+ , Potter seJuence i" bilateral renal a"enesis 6clu))ed "eet* compressed "acies* lo(:set ears* scaphoid a)domen* diminished chest (all siRe7+ !igher ris? o" res! failure than renal insu_ciency+ Neonatal hy!o"lyce#ia' may have transient )lood glucose in 20s and )e OF. de@nition is K300 A Gut persistent GG 3 B0 : loo? "or !atholo"y 6in)orn errors o" meta)olism* ID&* etc7 .etal e(!osures .etal alcohol syndro#e' , small "or gestational age* #icroce!haly+ s#all !al!ebral Fssures+ short nose+ s#ooth !hiltru#+ thin u!!er li!+ ptosis* #icro!thal#ia* cleft li!!alate+ CNS abnor#alities 6average IY E MQ7 57 Dilantin' #idface hy!o!lasia* lo( nasal )ridge* hypertelorism E )ig gap )et(een eyes* gro(th retardation* accentuated CupidPs )o( o" upper lip* cardiovascular anomalies* etc+ =nfants of Diabetic Eothers <=DE/ , >arge )a)ies 6macrosmia7* increased "etal O/ reDuirements ::H fetal hy!erinsuline#ia , &ay have hypoglycemia at )irth : i##ediate feedin" i" 25-30+ =V "lucose i" K25 , Polycythe#ia --L thro#bosis 6partial e5change trans"n i" hct H M47+ hy!oCa+ hy!er&ili too+ X Consider renal vein throm)osis in ID& (ith a)dominal mass 6hydronephrosis7 as neonate= , $arely* can see caudal re"ression syndro#e 6hypoplasia o" sacrum* lo(er e5tremities7+ , %lso a/( con"enital heart d9+ N)D Neurolo"y 'ead )rau#a Subdural he#ato#a' more common in @ids K 1G rupture o" )ridging veins. )lood )et(een dura & arachnoid , Eore #orbidity. less mortality than epidural 6)rain parenchyma involved ,!idural he#ato#a' more common in older ?ids. s?ull "5 - middle meningeal aa lac* )lood )t(n dura I s@ull , Eore #ortality. less mor)idity than su)dural 6under pressure7+ Classically (ith lucid interval &asilar s@ull f(' !eriorbital <raccoon eyes7 or !ostauricular 6GattlePs sign7 )ruising* , Can also see hemotympanum* CSF rhinorrhea / otorrhea+ I" *CS is less than S+ then you have to intubate? 6diferent GCS "or ?ids7 Neural tube defects' no "olic acid* valproic acid / car)amaRepine e5posure contri)ute+ elevated A.P in mom , S!ina biFda' N8D (ith incomplete "usion o" verte)ral arches , Eyelo#enin"ocoele8 contains neural I #enin"eal tissues+ >eads to hydrocephalus 6get 9# shunt7 , Eenin"ocoele8 Just meninges , S!ina biFda occulta' )ony de"ect in verte)rae (ith no herniation o" spinal contents+ , Chiari == #alfor#ation 6lo(er )rainstem* cere)ellum pushed )ac?7 : o"ten need cervical deco#!ression to prevent cyanotic episodes* apnea* stridor* dysphagia* etc+ , Get a C:section "or ?ids (ith N8D "or )etter management+ 'ydroce!halus' )ulging "ontanelle. poor "eeding* irrita)le / lethargic* downward deviation of eyes <;settin" sun- si"n7* spasticity* etc+ can indicate increased IC#+ A Cushin" triad 6hypertension* )radycardia* slo( / irreg respirations7 is a late Fndin"+ A sually get VP shunt <or Ird ventriculostomy i" acDueductal o)struction7 to open ;oor o" Ird vent+ W Shunt in"ections' most o"ten S+ epidermidis+ 58 Pseudotu#or cerebri' )enign )ut important cause o" !/%* o"ten overwei"ht fe#ales , ["rom impaired CSF resorption+ See !a!illede#a )ut nor#al C) , %P' increased opening pressure. serial >#s resolve headache , Can also use aceta9ola#ide furose#ide i" protracted cases+ CNS tu#ors8 =nfratentorial ' )u#or A"e C onset Eanifestations 5 yr surv Co##ents Cerebellar Astrocyto#a 4:U Ata(ia* nysta"#us* head tilt* intention tremor ^12 /12 o" all primary CNS tumors Eedulloblasto #a I:4 1bstructive hydroce!halusG ata(ia. CS. #ets 412 /12 o" all primary CNS tumors+ %cute onset o" s5 ,!endy#o#a /:M 1bstructive hydroce!halus. rarely seeds CSF 412 /4:412 are supratentorial &rainste# 6 e+g+ !ontine7 "lio#a 4:U #rogressive CN dysf(n* "ait distur)ance* !yra#idal tract / cere)ellar signs 6)ris? re;e5es* spasticity* )a)ins?i* etc7 K10 P <orst prognosis o" all childhood CNS tumors Su!ratentorial )u#or A"e C onse t Eanifestations 5 yr surv Co##ents Cerebral astrocyto#a 4:01 SR* !/%* motor wea@ness* !ersonality changes 01: 412 #oor survival i" high: grade gliomas Cranio!haryn"io #a Q:0/ &ite#!oral he#iano!sia+ endocrine a)normalities Q1: ^12 See calci@cation a)ove sella turcica+ Dia)etes insipidus common a"ter surg 1!tic "lio#a 3/ #oor visual acuity* e5opthalmos* nystagmus* optic atrophy* stra)ismus 41: ^12 NF:0 in Q12 o" pts *er# cell tumor : Parinaud syndrome 6paralysis o" up(ard gaRe7* lid retraction 6Collier sign7* precoc+ pu)erty+ &ay seed CSF Q42 Germ cell line &ay secrete G:hCG or %F# 59 ,!ile!sy Syndro#es ,!ile!sy Syndro#e 1nset )y!es 1ther Fndin"s ,,* )reat#ent %enno(- *astaut Childhood 60:Uy7 8ons o" diferent ?inds &ental retardation* )ad prognosis Slo( spi?e & (ave 60:/!R7 9#%* lamotrigine* "el)amate &eni"n rolandic e!ile!sy Childhood 64: 01y7 Simple partial 6mouth* "ace7* G8C Nocturnal preponderanc e* usually remits Centrotempor al spi?es Car)amaRepin e or no treatment Absence e!ile!sy Childhood 64: 01y7 & Wuvenile 6Q:0My7 %)sence* G8C !ypervent E trigger I !R spi?e & (ave Ethosu5amide * 9#% Nuvenile #yoclonic e!ile!sy %dolescence* young adulthood &yoclonic* a)sence* G8C Early morning preponderanc e K:M !R polyspi?e & (ave 9#%* lamotrigine Si#!le febrile sei9ures' )et(een B #o and B yrs* elevated temperature* "enerali9ed+ short 6304m7+ self-li#ited seiRure without focal Fndin"s. short !ostictal state* o"ten (ith prior h5 or F!5 Only need to get EEG i" comple5 6long* "ocal signs* etc7 Classic side e>ects of A,Ds , Carba#a9e!ine 6partial* G8C7' leu@o!enia+ thro#bocyto!enia* aplastic anemia , ,thosu(a#ide 6a)sence78 rash* rarely aplastic anemia , Phenobarb ^G8C or partial7' nystagmus* sedation or activation* ata5ia , Phenytoin 6G8C* partial7' nysta"#us+ rash* drug:induced lu!us+ "in"ival hyperplasia* polyneuropathy , VPA 6G8C* a)sence* partial7' he!atoto(icity+ NV+ neural tube defects , *aba!entin 6partial7' diRRiness* somnolence* ata5ia* "atigue , %a#otri"ine 6G8C* partial* a)sence* lenno5:gaustault7' rash including SNS* also N/9* rash* dou)le vision , )o!ira#ate 6G8C* partial* a)sence* >:G7' confusion+ headache* ata5ia Status e!ile!ticus' seiRure H I1m or /- sR (ithout "ull recovery o" consciousness 6in reality* treat H 4m sR7 0+ %GCs* get I9 access /+ &en9os <lora9e!a# 001 #"@" or dia9e!a#/ I+ T !henytoin 20 #"@" K+ T !henobarb 20 #" @" 4+ T anesthesia 6midaRolam* !entobarbital+ propo"ol7 to suppress )rain electrical activity 60 Acute infantile he#i!le"ia' acute onset o" a he#isyndro#e (ith eyes loo@in" away fro# !araly9ed side , )hro#boe#bolic occlusion o" #iddle cerebral artery or maJor )ranches 6)asically stro?e / 8I%7 &reath holdin" s!ells' can )e pallid or cyanotic. sudden pain / upset ::H cry ::H color change ::H child holding )reath in e5halation. can lose conciousness )rie;y and can have stifening / transient clonic movements+ Cerebral !alsy , Etiology' pro)la)ly most "rom antenatal insults 6less common perinatal* pregnancy* delivery7 , e have sR* M12 have intellectual disa)ility+ Classically see scissorin" of le"s , Failure to reach milestones' ste!!in" res!onse H I mo* Eoro H M mo* asymmetrical tonic nec@ H M mo , Can calculate #otor Juotient 6motor age / actual age7 , Di!le"ia E )ilateral legs. Juadra!le"ia E all legs* he#i!le"ia E one side* E H >E+ Euscular Dystro!hy' , Duchenne most common* C:lin?ed+ , FreDuent "alling* di_culty clim)ing stairs* hop (addle* !ro(i#al ## wea@ness 6Go(er sign7* pseudohypertrophy* cardio#yo!athy0 4es!iratory failure is V0 cause o" death+ , &ec@er' li?e D&D )ut less severe 6thin? older ?id* e+g+ 0/* (ith ne( (ea?ness* also F!57 , Eyotonic muscular dystrophy is V/' autoso#al do#inant+ X Inverted 9:shaped upper lip* thin chee?s* wastin" o" te#!oralis muscles* narrow head+ hi"h+ arched !alate+ Distal muscle (ea?ness leads to trou)le (al?ing : also speech di_culties* GI pro)lems* endicrine pro)lems* immune de@ciencies* cataracts+ intellectual i#!air#ent* cardiac pro)lems , S,45E C7 6elevated7* DN% analysis o" peripheral )lood to diagnose *enetic Diseases Disease =nheritan ce *enes Presentation Patholo"y 'untin"tonDs Disease %ut:dom Chromosome K 6C%G repeats in huntingtin7 Chorea* depression / )ehavioral changes* dementia %trophy o" caudate 6f G%G%ergic neurons7 :erdni"- 'o>#an %ut:rec Floppy )a)ies* tongue "asiculations* death L Qmo Degeneration o" anterior horns 6>&Ns only7 .riedrichDs ata(ia %ut:rec Frata5in gene* G%% repeats* Gait / "alls / diabetes nystagmus / Dorsal columns / lateral CS8 / 61 Chr O dysarthria / D& / cardio#yo!athy / ?yphoscoliosis s!inocerebellar / dorsal root "an"lia <hy!ore$e(ic7 ,!isodic Ata(ia Grie" episodes o" ata5ia / nausea / vertigo
S!inocerebella r ata(ia 6SC%7 %uto:dom 9arious* mostly C%G repeats #rogressive gait / dysarthria in early adult li"e g other neuro a)normalities* mild / moderate cognitive decline late
Eetachro#ic leu@odystro!hy %ut:rec >ysosomal storage 6arylsulfatase A de@ciency7 !ro"resive ata(ia* (ea?ness* !eri!heral neuro!athy. macular lesions 6gray7 Demyelination 6S sul"atides ::H f myelin sheath7 Charcot-Earie- )ooth 6!ereditary motor & sensory neuropathy7