PEDIATEIC ORAL TOPICS

Type I Diabetes - Definition, Etiology, Risk Factors, Presentation

DEFINITION: Autoimmune Destruction of pancreatic b-cells - Permanent Insulin

Deficiency (3 types - transient neonatal, permanent neonatal, classic type I

ETIOLOGY: Genetic component, environmental (viral?)

RISK FACTORS: Genetic (HLA chromosome 6), environmental exposures (food Ag,
congenital rubella), autoantibodies (islet cell Ag, glutamic acid decarboxylase, insulin)

PRESENTATION: Polyuria, Polydipsia, Polyphagia and Wt loss + ABD pain, nausea,

increased appetite, Glycosuria (causes osmotic diuresis -polyuria/polydipsia),
hyperglycemia (fasting>126mg/dL or 2 hour postprandial>200), islet cell antibody to
glutamic acid decarboxylase positive (anti-insulin Ab), low C-Peptide

DKA - Cause, Presentation, Treatment

CAUSE: unregulated fatty acid oxidation produces b-hydroxybutyrate, acetoacetate and
acetone - arterial pH below 7.25, serum bicarb < 15, Ketones elevated in serum/urine -
metabolic acidosis, may be precipitated by bacterial infection (think sepsis)

PRESENTATION: AMS, n/v, abd pain, kussmaul breathing(slow, deep), fruity breath,
seizures, dehydration (skin tenting, low capillary refill), tachycardia, Hx of recent wt
loss/polyuria/polydipsia, glucose >400, metabolic acidosis with anion gap,
hyperketonemia

TREATMENT: slow fluids (risk of cerebral edema if rapid shifts in osmolality) - pt is 10%
dehydrated, 10-20cc/kg bolus, remaining fluid given slowly over 36-48 hours; fast acting
insulin IV, NO BICARB! (can increase CNS acidosis), monitor acidosis and glucose
levels, relative hyperkalemia (insulin drives K+ intracellularly), overall K+ depletion -
give K+ unless > 6 mEq/L

CEREBRAL EDEMA TREATMENT: IV mannitol

Type II Diabetes - Definition, Types and Risk factors, Presentation

DEFINITION: Non insulin dependent - can be relative insulin deficiency, peripheral

resistance to action of insulin or both

TYPES: Secondary (CF, Hemochromatosis, pancreatectomy, drugs - L-asparagine,

tacrolimus), Adult type (classic - Associated with obesity, insulin resistance, genetic
component), Maturity onset diabetes of youth (MODY - AD, onset before 25, not
associated with diabetes or autoimmunity), Mitochondrial diabetes (associated with
deafness and other neuro deficits, maternal transmission - mtDNA pt mutation)

RISK FACTORS: genetic, obesity, diet, lack of exercise

PRESENTATION: Most asymptomatic, polyuria, polydipsia, acanthosis nigricans, wt

loss, HTN, Glycosuria, hyperglycemia (fasting>126, 2hr postprandial>200), Ketonuria

Diabetes - Complications, Treatment (I, II, Hypoglycemia), Insulin Types (Short,

Intermediate, Long)

COMPLICATIONS: hypoglycemic crisis or hyperglycemic crisis (DKA),

macrovascular (Atherosclerosis -> MI, CVA, poor wound healing)
microvascular (Retinopathy, nephropathy with microalbuminuria, neuropathy)

TYPE I TREATMENT - Prevent Complications (HBA1C, opthalmology, distal sensation

testing), Insulin Replacement - SC outpt, IV inpt (0.7 U/kg/24hrs); Fast with each meal

TYPE II TREATMENT - Prevent complications (HBA1C, opthalmology, distal sensation

testing), exercise + diet first, metformin only agent approved in kids, insulin if necessary

HYPOGLYCEMIA TREATMENT: if mild give oral glucose, severe at home (seizures)

give glucagon injection, IV glucose in hospital

SHORT: Regular, Lispro, Aspart, Glulisine

INTERMEDIATE: NPH, Lente
LONG: Glargine, Demeter

Neonatal Sepsis - Early vs Late, Signs and Symptoms, Risk Factors, Prevention,
Evaluation, Treatment

EARLY: Birth - 7 days - GBS, E. Coli, Listeria (transplacental), H. Flu, Coag (-) staph/S.
aureus (nosocomial), Klebsiella,

LATE: 8-28 days - GBS, E. Coli, H. Flu, Klebsiella, H. Flu, HSV, S. Pneumo, N.
Meningitidis, HSV, CMV, enteroviruses, coag neg staph/staph aureus (nosocomial
COMMON S+S: Deviation from infant's usual pattern of activity/feeding, temperature
instability, respiratory/GI/neuro abnormalities, fetal/neonatal distress during labor and
delivery (fetal tachycardia, mec stained amniotic fluid, low APGAR), Pneumonia
(respiratory distress), meningits (bulging fontanelle), hypoglycemia, metabolic acidosis,
DIC, hyperbilirubinemia
LESS COMMON S+S: Jaundice, respiratory distress (pneumonia), hepatomegaly,
anorexia, vomiting, lethargy, cyanosis, apnea, ABD distension, irritability, Diarrhea

RISK FACTORS: Delivery < 37 wks, 5 min APGAR < 6, fetal distress (tachycardia),
mom GBS+, ROM > 18 hours, meconium stained amniotic fluid, maternal
fever/amnionitis

PREVENTION: Intrapartum ABX (PCN) at delivery reduces GBS sepsis

EVALUATION: Vitals, PE, blood cultures, CBC (high neutrophils, WBC <5000 or >
19000, neutropenia), CRP, LP, Urine culture, other sites of infection (purulent eye
drainage), CXR if respiratory distress

TREATMENT: Culture/sensitivity specific - Empiric = Cephalosporins (cefotaxime

reaches CSF, treats GBS, E. Coli, G-'s) & Ampicillin (Listeria) OR Amp (G+ - Listeria,
staph, GBS, H. flu) & Gentamycin (E. coli, G-'s); H flu and pneumococcus show
resistance to Ampicillin Clinda/Flagyl for anaerobes, bactrim; Viral = acyclovir,
zidovudine; Fungal = fluconazole, Amphoteracin B

Neonatal Jaundice - Indirect (unconjugated) Hyperbilirubinemia – Causes

INDIRECT = total > 1.5, direct <2 or <20%

Physiologic jaundice (decreased BUGT, decreased bacterial flora - reabsorb more bili,
higher bili production - decreased RBC life, increased RBC mass)

Hemolysis - Rh/ABO/Kell/Duffy incompatibility (type A or B w type O mom),

hemoglobinopathies (alpha-thal), RBC enzyme defects (G6PD, PKD), RBC membrane
(spherocytosis, ovalocytosis)
Infection!
Congenital hypothyroid,
Cephalohematoma

Breast milk jaundice (starts 4-7 days and can last for wks, enzyme inhibits BUGT)
Breast feeding Jaundice (1st week - inadequate feeding, volume contraction and
relative increase in bili - add formula supplementation)
Drugs (ASA, cephalosporins, sulfas - displace from albumin; Rifampin - inhibits uptake
of bili to liver)

Crigler-Najjar - type 1 absent BUGT (severe), type II decreased activity (treat with
phenobarbitol), Gilbert's (point mutation in BUGT - presents later)
Pyloric Stenosis
ITP
****Kernicterus - basal ganglia

Neonatal Jaundice - Direct (conjugated) Hyperbilirubinemia - Common and

uncommon causes

DIRECT = direct > 2mg/dL or >20% of total

COMMON - Hyperalimentation cholestasis, TORCHES infections, inspissated bile from

prolonged hemolysis, neonatal hepatitis, sepsis

UNCOMMON - Hepatic infarction, inborn errors of metabolism (galactosemia,

tyrosinemia), CF, biliary atresia, Choledochal cyst, a-1AT def, neonatal iron storage
disease, arteriohepatic dysplasia

Neonatal Jaundice - Diagnosis, management

DIAGNOSIS: Transcutaneous Bili to screen (use butami Nomogram), Serum Bili, CBC,
LFTs, ALP/GGT, PT (vit K if prolonged), albumin, blood/urine culture, autoimmune labs,
alpha1AT, ceruloplasmin, urine succinyl acetone (tyrosinemia), US for biliary
atresia/choledochal cyst/cystic lesions

MANAGEMENT: Trend Bili, Phototherapy (begin if >15mg/dL - conjugates bilirubin -

bypass liver), Exchange transfusion if severe >20mg for infant > 2000g (or 10% of
birthweight) or signs of kernicterus (seizures), Liver transplant in severe cases

Respiratory Distress and Tachypnea at Birth - Evaluation, Management, Normal

ABG in neonates

EVALUATION: presentation (Nasal Flaring -> Tachypnea -> retractions -> grunting ->
cyanosis), ABG (respiratory acidosis, hypoxemia, hypercapnea in RDS; low CO2 and
alkalosis in TTN), CBC/Blood Cx, CXR, echo (if murmur present or refractory hypoxia),
blood glucose (stress hyperglycemia)

MANAGEMENT: prevent preterm birth (tocolytics, cerclage, treat infections, bed rest), If
preterm give surfactant, O2 NC (89-95% sats target), CPAP + intubation in infants with
respiratory failure, Provide neutral thermal environment, Consider empirical ABX
(Amp/Gent) for 48-72 hrs pending Cx
NORMAL ABG: Term infants - PaO2 = 55-60 @ 30 min; 75 @ 4 hrs; 90 @ 24hrs;
(preterm lower); PaCO2 = 35-40; pH = 7.35-7.40;
Respiratory Distress and Tachypnea at Birth - DDX (preterm, full term, both)
Preterm: RDS (common), Erythroblastosis Fetalis, nonimmune hydrops, pulmonary
hemorrhage

Full Term: PPHTN (common), Mec aspiration pneumonia (common), polycythemia,

amniotic fluid aspiration

Both: Sepsis (GBS - common), TTN (common - RDS overshadows this in preterm),
spontaneous PTX, congenital anomalies (lobar emphysema, cystic adenomatoid
malformation, diaphragmatic hernia), congenital heart dx, pulmonary hypoplasia, viral
infection (HSV, CMV), inborn metabolic errors

APGAR Scores
All scored 0-2 for total of 10 at 1 and 5 minutes
Appearance (skin color/cyanosis)
Pulse Rate (absent/<100/>100)
Grimace (reflex irritability)
Activity (muscle tone)
Respiration (absent/weak or gasp/strong with lusty cry)

Respiratory Distress - Persistant Pulmonary HTN (PPHTN), TTN, RDS

PPHTN: R-> L shunting of deoxygenated blood through foramen ovale and PDA =
hypoxemia
TTN: failure of adequate lung clearance, increased lung liquid -> eventually cleared by
lymphatic/vascular circulation, CXR - B/L perihilar streaking
RDS: Deficiency of surfactant (DPPC), increased alveolar surface tension (collapsing of
alveoli), increased work of breathing, CXR - diffuse ground glass infiltrates and
decreased lung volumes, air bronchograms

Dehydration - Estimation of fluid deficit, Oral vs. parenteral rehydration

MILD = 5% infant (normal PE); 3% adolescent (thirsty)

MODERATE = 10% infant; 5% adolescent - tachycardic, mild skin tenting, tachy mucus
membranes, cap refil 3-4 seconds, weak pulses, oliguria

SEVERE = 15% infant; 7% adolescent - tachy, very weak pulses, sunken fontanelle, dry
mucus membranes, severe oliguria, no tears

FLUID DEFICIT (%) = (pre-illness wt - illness wt) / pre-illness wt

ORAL VS PARENTERAL: Oral for mild-moderate diarrheal loss -> cheaper, less
complications

HYPONATREMIA

Dehydration - Calculation of Maintenance Fluids, Calculation of fluids for

correction, what fluids, rehydration in hyponatremia

MAINTENANCE: First 10kg = 100cc/kg/d (4cc/kg/h); 2nd 10kg = +50cc/kg/d (2cc/kg/h);

>20kg = +20cc/kg/d (1cc/kg/h)
(CALORIC REQUIREMENT IS SAME - D50 = 50g/L; 1g/L sugar = 3.4 kcal)
CORRECTION: Calculate Maintenance and add % dehydration to daily/hourly rate
(deficit = %dehydration x wt-kg), Restore intravascular volume: Give bolus NS 20cc/kg
over 20 minutes + repeat PRN

Rapid volume repletion: 20cc/kg NS (max 1L) over 2 hrs. Subtract isotonic fluid
already administered from 24 hour fluid needs; administer remaining volume over 24
hours using D5 1/2 NS + 20mEq/L KCl

WHAT FLUIDS: Use D10W in 1st 24 hrs (neonates retain Na), after use D5-0.2 NS
HYPONATREMIA: give slowly (no > 12 mEq/L/24hr) - quick fluid causes Central pontine
myelinolysiis (myelin lysis - paralysis, dysphagia, dysarthria)
Normal saline 154mEq/L

Failure To Thrive – DDX

**CHIN GERM**
CONGENITAL/ANATOMIC - chromosomal abnormalities/syndromes, congenital heart
disease, GI abnormalities (Pyloric stenosis, malrotation), vascular rings, airway
obstruction, dental caries, immunodeficiency

HEMATOLOGIC - SC, iron deficiency anemia

INFECTIONS - HIV, TB, Hepatitis, UTI, chronic sinusitis, parasitic infection

NEUROLOGIC - CP, hypothalamic/CNS tumors, hypotonia syndromes, neuromuscular

dx, degenerative/storage disorders

GI - CF (or other pancreatic insufficiency), celiac, malabsorption, GI reflux

ENVIRONMENTAL/SOCIAL (*most common*)

RENAL - CRF, RTA, UTI
METABOLIC - Thyroid, adrenal/pituitary, aminoaciduria/organic aciduria, galactosemia
Failure To Thrive - Presentation, Evaluation, Treatment, Caloric Requirements

PRESENTATION: Wt < 3rd percentile on >1 occaision, Wt constantly < 80% of median,
Wt fell 2 major percentiles, Other Hx - CHF, Chronic lung dx, parental difficulties,
vomit/feeding difficulties

EVALUATION: Hx (birth, feeding, vomiting, stools, PMH/PSH, FHx - CF, Fever), GEN
(parental bond, growth chart, wasting/subQfat/muscle mass, dysmorphia, evidence of
malnutrition - hair/nails/skin/mm), HEENT(cleft palate, open fontanelle - hypothyroid),
Lungs (Distress), ABD (organomegaly), Neuro (Dx, CN dysfunction, weakness)

TREATMENT: Treat underlying cause: social/physical

increase nutrition, educate parents, F/U!!
CALORIC REQUIREMENTS: Normal = 100kcal/kg/d, need = 120kcal/kg/d (breast milk
20cal/oz = 0.67kcal/cc -> need 6oz breast milk/kg/d)

Short Stature - Presentation, Evaluation, Treatment

PRESENTATION: look at curve, Constitutional delay = with 3rd percentile = Familial

short stature (growing normal <3rd percentile)

EVALUATION: Hx -> growth curve, meds (glucocorticoids, stimulants for ADHD),

energy level/appetite, stools (malabsorptive - celiac/IBD), FHx of growth, recent
sickness/PMH (FTT), dietary/social Hx; Further Workup -> Midparental heights, eval
puberty, examine prenatal records (intrauterine insult), chromosome analysis (Turner's),
thyroid studies, growth factors, provocative growth hormone testing

TREATMENT: Treat underlying cause, Reassure parents, ? GH therapy

Chronic Cough - DDX, Evaluation

DDX: Asthma
Postnasal drip syndromes (allergic rhinitis/sinusitis)
Postinfections Tussive Syndroems
GERD
Swallowing dysfunction (infants)
TEF/Tracheomalacia
Chronic infection
Exposure to irritants (tobacco/wood stove smoke)
Foreign body aspiration
Psychogenic
EVALUATION: > 3 wks (Nelson); > 4wks (U2D) - needs to be evaluated
Hx, PE, CXR, Spirometry, environmental Hx

Sore Throat - DDX (Life Threatening, Common)

LIFE THREATENING: epiglotitis (h. flu - fever, stridor, drooling), retropharyngeal

abscess, lateral pharyngeal abscess (trismus), peritonsillar abscess, infectious mono
(may cause tonsillar hypertrophy and airway obstruction), diphtheria (membrane,
adenopathy), Lemierre's syndrome (fusobacterium necrophorum - JV thrombophlebitis
+ dissemination of septic emboli)

COMMON: Viral pharyngitis -> Rhino, corona, adeno (conjunctivitis), cox A (herpangina,
H/F/M dx), influenza/parainfluenza, HSV (common in immunocompromised), EBV, HIV
(rare),
Bacterial pharyngitis -> Strep pyogenes, group C strep, arcanobacteria, diptheria,
chlamydia, mycoplasma, gonorrhea
GERD

Sore Throat - Evaluation, Treatement

EVALUATION: Look for other sx (fever, etc), Rapid Strep (throat culture better - gold
standard), Blood cultures, CBC w/ diff

TREATMENT: Most resolve spontaneously

PCN for strep to reduce risk of rheumatic fever or PSGN

Swollen Joint - DDX

**ARTHRITIS**
A- avascular necrosis and epiphiseal dx (Osgood Schlatter/legg Calve Perthes)
R - reactive (postinfectious) - RF ASO titers
T - Trauma (unequal limb length, microtrauma in athletes)
H - Hematologic (leukemia, bleeding diathesis, hemoglobinopathies)
R - Rickets, metabolic and endocrine Dx
I - Infection (septic arthritis + osteomyelitis - STAPH!!!, salmonella in SC lyme,
parvovirus)
T - Tumor (osteosarcoma, lymphoma, neuroblastoma)
I - Idiopathic pain syndromes (complex regional pain syndrome type I and fibromyalgia)
S - Systemic Rheumatologic Dx (juvenile rheumatoid arthritis, SLE)

Swollen Joint - Evaluation, Work-up

EVALUATION: Hx: elaborate pain, ROS (rash, fever, wt loss, abd pain, ocular
abnormalities, recent infection), PMH (celiac, IBD, chronic lung/cardiac dx with hypoxia,
uveitis, psoriasis, CF), FHx (psoriasis, hypermobility syndromes, IBD,
spondyloarthropathies), recent increase in physical activity/trauma

WORK-UP: Joint aspiration, imaging, CBC, autoimmune labs, CRP/ESR

Childhood Exanthems - Signs, Symptoms, Evaluation

SIGNS: macular/papular (<1cm), nodular (>1)/patch, vesicular/bullae,

plaque/pustule/Erythematous/color, size/distribution (lacy w slapped cheeks =
parvoB19)

SYMPTOMS: Fever, petechiae, purpura (meningococcemia), pruritis

(scabies/atopic/contact dermatitis), URI sx (erythema infectiousum)

EVALUATION: Hx - meds (allergies/SJS - targetoid), asthma/allergic rhinitis (atopic

dermatitis), contacts with similar rash (impetigo, tinea, head lice, scabies, bed bugs),
acne (lithium), sexual Hx (2 syph, disseminated gonoccocal, molluscum, pubic lice,
scabies); PE - seborrheic dermatitis (scalp/eyebrows/nasolabial folds), psoriasis (scalp,
elbows, knees), contact derm (patterns), dermatome (VZV), Annulus/ring (papules in
granuloma annulare, patch in erythema migrans); LABS depending on associated
symptoms/findings

TREATMENT: Corticosteroid creams, Antifungal creams, Antibacterials

Gastroenteritis - Bacterial, Viral, Evaluation, Treatment

BACTERIAL: Foods, water, bloody stool -> Campylobacter, Salmonella, Shigella

(seizures), E. Coli (HUS), Cholera, C. diff (recent ABX)

VIRAL: Feces spread, more often fever, URI sx -> Rota (#1) - damages microvilli,
Influenza, Calci (Norwalk), Astro, Adeno (40/41), Picorna (Aichi)

EVALUATION: Hx - associated symptoms, travel, diet, wt loss, malnutrition, decreased

urine output (HUS); PE - Dehydration!; LABS - Blood/Stool culture for specific ABX

TREATMENT: Oral rehydration solution for mild-moderate dehydration

IV Fluids for severe dehydration; Specific ABX, Treat bacterial with metronidazole if
bloody stool

Otitis Media - Bacterial, Viral, Diagnostic Criteria, Treatment

BACTERIAL (92%): S. Pneumo (unilateral), nontypeable Hflu (otitis-conjunctivitis B/L),

M.Cat, Group A strep, S. Aureus, E. Coli, mycoplasma, chlamydia
VIRAL (70% - often both): RSV, picorna (rhino, entero), corona, influenza, adeno,
human metapneumo

DIAGNOSTIC CRITERIA: Evidence of acute Hx (fever, irritability)

Signs and symptoms of middle ear inflammation (bulg TM, erythematous TM, otalgia),
Middle ear effusion (air fluid level, abnormal color, opacity, impairment of mobility),
OTOSCOPY!

TREATMENT: amoxicillin 1st line (80-90 mg/kg/d BID), IM ceftriaxone if vomiting

precludes oral treatment, Tylenol/motrin for fever, Decongestants and antihistamines
not effective

Asthma - Signs and Symptoms

Common: Tachypnea, tachycardia, cough, wheeze, prolonged expiratory phase. Night

time symptoms common
*Silent chest: no wheezing due to minimal air movement

Severe: cyanosis, diminished air movement, retractions, agitation, inability to speak,

tripod sitting position, diaphoresis, pulsus paradoxus (decrease BP w inspiration)

PE: atopic diseases - eczema/allergic rhinitis

Asthma - 4 Phases

MILD INTERMITTENT: >80% FEV1 + PEFR (b4 bronchodilator)

Sx < 2/wk, brief exacerbations (hours-days), night cough 2/month
MILD PERSISTENT: 80% FEV1 + PEFR (b4 B/D) with >12-20% change after B/D
Sx 2/wk but not 1/d, night sx >2/month <1/wk, exacerbations affect sleep/activity

MODERATE PERSISTENT: 60-80% FEV1+PEFR (b4 B/D)

Sx daily, exac > 2/wk, night sx > 1/wk
SEVERE: <60% FEV1+PEFR (b4 B/D)

Continuous sx, frequent exac, frequent night sx

Asthma - Triggers, Outpatient management, Inpatient management

TRIGGERS: Viral infections, exposure to allergens and irritants (smoke, strong odors,
fumes), exercise, emotions, change in weather/humidity, Aggravating factors -
rhinosinusitis, GERD, sensitivity to NSAIDs -> treat to lessen severity

OUTPATIENT MANAGEMENT: Spirometry - diagnosis and monitor response to

treatment (>5yrs), Environmental control (avoid triggers), pharmacological therapy,
patient education

INPATIENT MANAGEMENT: Spirometry, CXR (first episode or if fever)

Admit if no response to b-ag, peak flows <50% after b-ag; difficulty breathing, cyanosis -
> Give albuterol treatments, O2, long acting steroids, MgSO4

Asthma – Medications

BRONCHODILATION: short b-ag, systemic corticosteroids, anticholinergics

INFLAMMATION: long b, inhaled corticosteroids, NSAIDs, LT modifiers, theophyline,
IgE Ab's

SHORT B: albuterol, levalbuterol (no increased HR), pirbuterol

ORAL CORTICOSTEROIDS: medrol, prednisolone (tablet), prednisone

ANTICHOLINERGICS: ipratropium bromide

INHALED CORTICOSTEROIDS: budesonide, flunisolide, fluticasone, mometasone,

triamcinolone

COMBO: advair (fluticasone + salmeterol)

NSAID: cromolyn (mast cell destabilizer), nedocromil (safer, tastes bad)

LT MODIFIERS: montelukast, zafirlukast, zileuton

LONG B: salmeterol, formoterol, sustained albuterol

ANTI-IgE: Omalizumab

Iron Deficiency Anemia - Diagnosis, Causes, Presentation Treatment, Normal

MCV

DIAGNOSIS: Blood smear (microcytic, hypochromic), 2 SD below average for age

(newborns 17+/-2), RDW >20, low reticulocyte count (decreased production), increased
TIBC, low ferritin (<30), increased transferrin (liver compensation), decreased transferrin
saturation
*MCV = 70 + age (years)

CAUSES: Chronic blood loss (GI tract, GU tract, respiratory tract, cardiac hemolysis),
poor diet, cow's milk protein intolerance, menstruation

PRESENTATION: Weakness, fatigue, pallor, low BP

TREATMENT: oral iron (ferrous sulfate (ferrous gluconate if intolerant -> f/u Hb. IM iron
if malabsorption, transfusion if severe (slowly - 3/4/5)

NORMAL MCV: 70 + age (years)

Sickle Cell Anemia - Diagnosis, Presentation, Crises, Treatment

DIAGNOSIS: Newborn screen, electrophoresis, cbc

PRESENTATION: weakness, fatigue, pallor, jaundice, h/smegaly, decreased growth

CRISES: Vaso-occlusive (pain, bones, chest, dactylitis, strokes, hematuria, priapism,

blindness), hemolytic, aplastic, splenic sequestration (also in liver/intestine -> leads to
hypovolemic shock); spleen lost at 2-5 years

TREATMENT: supportive, transfusion if crises, oxygen, pain control for painful crises),
iron chelation (deferroxamine) for multiple transfusions, fluids, ABX,
pneumococcal/meningococcal/salmonella vaccines, hydroxyurea (increase HbF), stem
cell transplant

Innocent Heart Murmurs

**Intensity, timing, location, radiation, quality (pitch), postural**

CHARACTERISTICS: soft (I-III), position dependent (disappear when upright), no other
symptoms, systolic or both, no thrill, physiologic splitting of S2 (merges during
expiration)

STILLS: inf LLSB, systolic ejection, vibratory/musical

PULMONARY EJECTION: sup LLSB, low pitched ejection

VENOUS HUM: infraclavicular, continuous R>L, decreased with JV palpation/neck

turn/supine

SYSTEMIC FLOW: supraclavicular - arterial bruit

PERIPHERAL PULMONARY STENOSIS: high pitch with radiation to back/armpit

Pathologic Heart Murmurs

HOLOSYSTOLIC: VSD, MR
LATE SYSTOLIC: MVP (w/ mid systolic click)

SYSTOLIC EJECTION: crescendo decrescendo - AS/PS, ASD

EARLY DIASTOLIC: AR/PR

MID DIASTOLIC: MS/TS

LATE DIASTOLIC: SEVERE MS/TS

CONTINOUS: PDA, AV fistula, connections (surgical shunt), coarctation, venous hum

(innocent)

POSTURAL: LL decubitus increases MS, valsava (decreased VR) decreases

AS/VSD/MR + increases HCM, squatting (increased VR) decreases HOCM + increases
AS

Immunization Schedule

BIRTH: Hep B

2 MONTH: Hep B2, RV, DTaP, Hib, PCV, IPV

4 MONTH: RV, DTaP, Hib, PCV, IPV

6 MONTH: Hep B3, RV, DTaP, Hib, PCV, IPV + Hep B + Influenza Yearly

12-15 MONTHS: DTap, Hib, PCV, MMR, Varicella, Hep A1

4-6 YEARS: DTaP, IPV, MMR, Varicella

11-12 YEARS: TDaP, 3 dose HPV, Dose I meningococcal (booster at 16)

HIGH RISK - MCV4 at 9 months, PPSV at 2-3 years

Growth and Development - Height, weight, head circumference, caloric needs

HEIGHT: midparental height = (dad + mom)/2 +/- 2.5 inches; 0-6 months =
1inch/month, 6-12 = .5inch/month, 4 inches year 2, 3 inches year 3, 2.75 inches year 4,
2 inches 4-10

LENGTH FORMULA: Birth length = 50cm/20inches; Age (years) x 2.5 + 30 cm;

WEIGHT: 3.5kg at birth, lose 10% in first week, gain 30g/d 1-3 months, 20g/d 3-6
months, 10g/d 6-12 months, double by 4 triple by 12, quadruple by 24; 2-puberty =
2kg/yr

WEIGHT FORMULA: months + 11 lbs, (year x 7) + 5 from 1-6; (year x 5) + 17;

HEAD CIRCUMFERENCE: newborn 35cm, 1cm/month for first year

CALORIES: 120-150 high risk, 100-120 neonate, 90-100 1-2yrs, 80-90 2-6, 70-80 7-9,
50-60 10-12

Growth and Development - Gross Motor Milestones (2 weeks, 2/4/6/9/12/15/18

months, 2-5 years)

2 WEEKS: moves head side to side

2 MONTHS: lifts shoulder when prone

4 MONTHS: lifts up onto hands, rolls

6 MONTHS: sits alone

9 MONTHS: pulls to stand

12 MONTHS: Walks, stoops and stands, waves bye, climbs furniture

15 MONTHS: walks backwards

18 MONTHS: runs, kicks ball

2 YEARS: walks up and down stairs, jumps, throws ball

3 YEARS: alternates stairs, broad jump, tricycle,

4 YEARS: balances on each foot, hops on one foot

5 YEARS: skips, heel-toe walks

Growth and Development - Fine Motor Milestones (2/4/6/9/12/15/18 months, 2-6

years)

2 MONTHS: tracks past midline

4 MONTHS: reaches for object, raking grasp

6 MONTHS: hand to hand transfer of object

9 MONTHS: pincer, bangs 2 blocks together

12 MONTHS: turns several pages at once, pincer, bangs 2 blocks together

15 MONTHS: scribbles, stacks 2 blocks

18 MONTHS: stacks 4 blocks

2 YEARS: 6 block tower, copies line, turns individual pages

3 YEARS: 8 block tower, wiggles thumb, draws circle

4 YEARS: draws +, person with 3 parts

5 YEARS: copies square

6 YEARS: copies triangle, draws person with 6 parts

Growth and Development - Verbal Milestones (2/4/6/9/12/15/18/24/36)

2 MONTHS: Cooing
4 MONTHS: laughs + squeals
6 MONTHS: Babbles
9 MONTHS: Dada, Mama
12 MONTHS: Mama, Dada, 1-2 other words
15 MONTHS: 3-6 Words, follows commands
18 MONTHS: 10 words
2 YEARS: 50-200 words, 2 word sentences, 50% understandable
3 YEARS: Colors, 3 word sentences, 75% understandable, knows sex
4 YEARS: counts to 10, tells stories, plurals + prepositions

Pertussis - Etiology, prevention, presentation, treatment

ETIOLOGY: Bordetella pertussis (respiratory spread)

PREVENTION: DTaP/TDaP (killed vaccine - 2/4/6/12 months + 4-6 years + TDap at 11-
12)

PRESENTATION: 1 wk incubation, 2 wk catarrhal phase (rhinorrhea, lacrimation, mild

cough, conjunctival injection), 2 wk paroxysmal phase (dry cough, increased respiratory
effort after cough/whoop), 2 wk convalescent stage (decreased severity/frequency of
cough/paroxysms) usually no fever
TREATMENT: supportive, hospitalization < 6 months old (apnea, bradycardia, hypoxia),
suctioning, hydration, macrolide ABX (erythromycin, azithromycin, clarithromycin)

Measles - Etiology, prevention, presentation, treatment

ETIOLOGY: RNA paramyxovirus (Rubeola) - droplet + airborne

PREVENTION: MMR (live vaccine - 1 year + 4-6 years)

PRESENTATION: **PRODROME = FEVER, COUGH, CORYZA, CONJUNCTIVITIS**,

2-4 days later- characteristic xanthem (starts behind ears, spreads to body), koplik
spots, lasts 4-7 days + generalized lymphadenopathy +/- splenomegaly; Atypical =
fever, abd pain, acral eruption (distal extremities), with vesicular/pustular/purpuric
lesions

TREATMENT: Supportive (fluids, tylenol/motrin), vitamin A helpful

Mumps - Etiology, prevention, presentation, complications, treatment

ETIOLOGY: RNA Paramyxovirus (mumps) - contact + respiratory tract secretions +

saliva spread

PREVENTION: MMR (live vaccine - 1 year + 4-6 years)

PRESENTATION: Parotitis, subclinical URI, orchitis

COMPLICATIONS: arthritis, thyroiditis, mastitis, GN, myocarditis, thrombocytopenia,

cerebellar ataxia, transverse myelitis, encephalitis, pancreatitis, oophoritis, permanent
hearing impairment

TREATMENT: Supportive (fluids, tylenol/motriin)

Rubella - Etiology, prevention, presentation, complications, treatment

ETIOLOGY: Togavirus (Rubella virus)

PREVENTION: MMR (live vaccine - 1 year + 4-6 years)

PRESENTATION: Rash (m/p), lymphadenopathy, slight fever, conjunctivitis

COMPLICATIONS: encephalitis, thrombocytopenia

TREATMENT: Supportive (fluids, tylenol/motrin)

Chicken Pox - Etiology, prevention, presentation, treatment

ETIOLOGY: Varicella Zoster Virus (HHV III) highly contagious

PREVENTION: Varicella Vaccine (live vaccine - 1yr + 4-6 years)

PRESENTATION: pruritic vesicular rash (spreads centrifugally - starts on scalp->neck-

>trunk), low grade fever, Vesicles in crops, mucus membranes may be involved lasts 5-
10 days

TREATMENT: Supportive (control fever, pruritis, fluids)

GBS - Early vs. late onset, Prevention

EARLY: 0-7 Days

LATE: 8-28 Days

PREVENTION: antepartum ABX (PCN/AMP)

PRESENTATION: Deviation from infant's usual pattern of activity/feeding, temperature

instability, respiratory/GI/neuro abnormalities, fetal/neonatal distress during labor and
delivery (fetal tachycardia, mec stained amniotic fluid, low APGAR), Pneumonia
(respiratory distress), meningits (bulging fontanelle), hypoglycemia, metabolic acidosis,
DIC, hyperbilirubinemia, Jaundice, respiratory distress (pneumonia), hepatomegaly,
anorexia, vomiting, lethargy, cyanosis, apnea, ABD distension, irritability, Diarrhea

TREATMENT: Amp/Gent (both cover), Amp/Cephalosporin (both cover)

TORCHES
Toxoplasmosis
Other: HIV, Listeria, Gonococcus, GBS, VCZ, Malaria
Rubella
CMV
Herpes Simplex
Syphilis

Congenital Toxoplasmosis - Etiology, presentation, prognosis, treatment

ETIOLOGY: Transplacental, Toxoplasmosis Gondi (protozoa) -> bradyzoites in

undercooked meat, oocysts in cat feces

PRESENTATION: Mild maternal Illness, asymptomatic at birth -> can have

visual/hearing impairment learning disabilities, MR, rash, lymphadenopathy, h/s-megaly,
Jaundice, pneumonitis, diarrhea, temperatuure instability,
**Classic triad = Cerebral calcifications, chorioretinitis, hydrocephalus**
PROGNOSIS: death in utero, MR/LD, visual/hearing impairment, seizures,
hydrocephalus, microcephaly, meningoencephalitis

TREATMENT: Pyrimethamine (with leucovorin) + Sulfadiazine OR Bactrim OR

Pyrimethamine/leucovorin + Clinda/azithromycin

Congenital Rubella - Etiology, presentation, prognosis, treatment

ETIOLOGY: + RNA Togavirus – transplacental

PRESENTATION: Miscarriage, fetal death, congenital rubella syndrome

(cataracts/glaucoma, pigmentary retinopathy, dermal erythropoeisis, sensorineural
deafness, neuro - behavioral/meningoencephalitis/MR/microcephaly, cardiac - PDA,
pneumonitis, h/S-megaly, thrombocytopenia, growth restriction

PROGNOSIS: MR, Deaftness, death

TREATMENT: Supportive, hospitalization + isolation -> prevention and screening

important

Congenital CMV - Etiology, presentation, prognosis, treatment

ETIOLOGY: Cytomegalovirus (HHV 5), transplacental

PRESENTATION: most asymptomatic, IUGR, jaundice, purpura, H/Smegaly,

microcephaly, intracerebral calcifications, retinitis, sensorineural hearing loss

PROGNOSIS: death, hearing loss, developmental delays (most common)

TREATMENT: Ganciclovir, valganciclovir (oral prodrug)

Congenital HSV - Etiology, presentation, prognosis, treatment

ETIOLOGY: Herpes Simplex I or II – dsDNA

PRESENTATION: 1. disseminated disease (liver and lungs), 2. localized CNS dx (+/-

SEM), 3. Localized to skin/eyes/mouth;
fever, vesiuclar rash, - blood cultures, abnormal CSF, sepsis, liver dysfunction,
pneumonia, keratoconjunctivitis, encephalitis

PROGNOSIS: high mortality

TREATMENT: acyclovir, valaciclovir(better for chicken pox), famiciclovir, topical

penciclovir
Congenital Syphilis - Etiology, presentation, prognosis, treatment

ETIOLOGY: Spirochete - Treponema Pallidum (transplacental)

PRESENTATION: stillbirth, hydrops, preterm, asymptomatic -> h/smegaly, increased

nasal secretions, lymphadenopathy, mucocutaneous lesions, pneumonia,
osteochondritis, pseudoparalysis, edema, rash, hemolytic anemia, thrombocytopenia

PROGNOSIS: Interstitial keratitis (5-20 years), 8th CN deafness (10-40), hutchinson's

teeth, anterior bowing of shins, frontal bossing, mulberry molars, saddle nose, perioral
fissures, clutton joints
TREATMENT: PCN G, desensitization if allergic

IBD - Crohns - Signs, symptoms, evaluation, complications, treatment

SIGNS AND SYMPTOMS: loss of appetitie, wt loss, fever, crampy abdominal pain, FTT,
delayed puberty, anemia, lethargy

EVALUATION: CBC w diff (anemia, elevated platelets), ESR/CRP (elevated), ASCA,

upper GI series, CT, endoscopy, colonoscopy

COMPLICATIONS: perineal fistulas, arthritis, erythema nodosum, uveitis, iritis,

strictures, transmural involvement, oral ulcers (terminal ileum most common),
osteopenia

TREATMENT:5-ASA (less responsive than UC), immunosuppressants (6-

Mercaptopurine, azathioprine), infliximab (best)

IBD - UC - Signs, symptoms, evaluation, complications, treatment

SIGNS AND SYMPTOMS: FTT, weakness, wt loss, fever Colonic involvement - bloody
diarrhea, mucus in stools, urgensy, tenesmus

EVALUATION: CBC w diff (anemia, elevated platelets), ESR/CRP (elevated), atypical

pANCA, upper GI series, CT, endoscopy, colonoscopy

COMPLICATIONS: Cancer, Toxic megacolon (fever, abd distension, pain, anemia, low
serum albumin), arthritis, uveitis, pyoderma gangrenosum, primary sclerosing
cholangitis

TREATMENT: 5-ASA (mesalamine), sulfasalazine, immunosuppressants (6-

Mercaptopurine, azathioprine), surgery may be curative

Lead poisoning - screening + diagnosis

SCREENING: CDC - blood screen at 12 and 24 months, questionnaire at 6 months
- 6 years -> older homes (paint), industrial exposure, diarrhea remedy from mexico,
pottery glaze

DIAGNOSIS: Venous blood sample -> environmental investigation if > 20microg/dL on

single visit or >15 over 3 month period (5-10 may cause learning problems)
.
PRESENTATION: learning disabilities, alopecia, gum lines, abd cramps, peripheral
neuropathy, coma, seizures,

TREATMENT: EDTA, dimercaprol (HTN/sterile abscess), penicillamine (monitor for

hepatic/bone marrow tox), succimer

Bloody Diarrhea - Salmonella - types, presentation, diagnosis, treatment

ETIOLOGY: Food/water/iguanas/turtles - S. TYPHI/Paratyphi (enteric fever -> insidious

onset with high fever -> rose colored spots on abdomen travelers to asia/mexico/india,
carry in gall bladder) OR Non-typhoidal (S. ENTERIDITIS, S. Hadar - turkey burgers, S.
Panama - canteloupe)

PRESENTATION: low fever, 2-5 days, nausea, vomiting, diarrhea at onset -> may
become septic

DIAGNOSIS: blood Cx negative, stool cultures + soon after onset (Salmonella/shigella

agar) invades peyer's patches in terminal Ileum
TREATMENT: oral fluids, amp/bactrim (most immune to both) or cipro if severe

Bloody Diarrhea - Shigella - 4 types, Presentation, diagnosis, treatment

S dysenteriae (worst)
S flexneri (homosexual men - jails),
S boydii (rare)
S sonnei (mild) - fecal oral route, cytotoxin + invasion

PRESENTATION: Bloody Diarrhea, mucus, abdominal pain,

fever,tenesmus, SEIZURES

DIAGNOSIS: Isolate from stools/water/food -> salmonella/shigella agar,

Salmonella/Shigella agar, blood cultures (may be negative)

TREATMENT: Chloramphenicol, ampicillin, tetracycline, supportive

Bloody Diarrhea - Yersinia - Etiology, Presentation, diagnosis, treatment

ETIOLOGY: Y. Enterolytica + Y pseudotuberculosis -> unwashed lettuce -> invasion

PRESENTATION: self limiting diarrhea (bloody), pain, mild fever, pseudoappendicitis
(mesenteric lymphadenitis - also in non-typhoid salmonella and campylobacter),
postinfectious arthritis (reactive)

DIAGNOSIS: Stool culture (macConkey agar)

TREATMENT: doxycycline, tetracycline, supportive

Bloody Diarrhea - Campylobacter Jejuni - Etiology, Presentation, diagnosis,

treatment

ETIOLOGY: food borne,

invasion/inflammation/bacteremia/endotoxin/enterotoxin/cytotoxin ->
PRESENTATION: green/bloody diarrhea, abd pain (severe), reactive arthritis , Guillan
Barre Syndrome (motor axonal neuropathy - autoimmune)

DIAGNOSIS: stool culture, gram negative vibrio-like with single flagellum

TREATMENT: Erythromycin, supportive

Bloody Diarrhea - E. Coli - Types + Presentation, diagnosis, treatment

TYPES: EIEC (invasion), EnteroaggregativeEC (EAEC - aggregative adherence factor),

EHEC (shiga like toxin - O157:H7), ETEC (cholera-like toxin - non-bloody, most
common cause of traveler's diarrhea), EPEC (non-bloody)

DIAGNOSIS: Stool culture - MacConkey's agar, get renal fxn,

PRESENTATION: bloody diarrhea, dehydration, HUS (acute renal failure,

thrombocytopenia, microangiopathic hemolytic anemia -> shiga like toxin)

TREATMENT: supportive

Trisomy 13 - Classic Features, prognosis

PATAU
CLASSIC FEATURES: Palate (cleft lip + palate), polydactyly, microcephaly,
holoprosencephaly, capillary hemangiomas, deafness, scalp cutis aplasia,
microopthalmia, hypoplastic nails, congenital heart diseases, omphalocele, 2 vessel
cord

PROGNOSIS: usually fatal in first year of life

Trisomy 18 - Classic Features, prognosis

EDWARDS
CLASSIC FEATURES: SGA, hypertonia, weak cry, 2 vessel cord, prominent occiput,
receding jaw, low set ears, short sternum, rocker bottom feet, hypoplastic nails,
clenching fists (second and fifth digits overlap 3rd and 4th), congenital heart diseases

PROGNOSIS: most spontaneously aborted in first trimester, <10% survive to first

birthday, severe MR

Trisomy 21 - Classic features, prognosis

DOWN - nondisjunction in maternal meiosis I, advanced maternal age, seen on triple
screen (AFP, HCG, estriol)

CLASSIC FEATURES: hypotonic at birth, poor moro, lax jts, redundant skin on back of
neck, bracycephaly, flattened occiput, hypoplastic midface, flattened nasal bridge,
upslanting palpebral fissures, epicanthal folds ,large protruding tongue, single palmar
crease, may have feeding problems and decreased activity

PROGNOSIS: MR, Congenital heart disease (endocardial cushion, VSD),

hypothyroidism, polycythemia, increased risk of leukemia, cataracts, increased
infections, early alzheimers, GI anomalies (duodenal atresia)

Household poisoning and safety recommendations - common sources, fatal

sources, presentation, treatment

COMMON SOURCES: cosmetics, hair products, cleaning solutions, analgesics ->

acetaminophen, lead, antidepressants are most common,

FATAL SOURCES = CO, hydrocarbons, medications (analgesics, iron, cardiovascular

drugs, TCAs), drugs of abuse, caustic ingestions

PRESENTATION: often a diagnosis of exclusion - comatose child = ingestion until

proven otherwise; good history and timing are crucial, tox screen -> 6 basic
patterns: coma, toxicity (systemic and pulmonary), metabolic acidosis, dysrhythmias,
GI symptoms, seizures

TREATMENT: Supportive care -> protect and maintain airway, support circulation, if
level of consciousness depressed + toxic substance suspected, give glucose (1g/kg IV),
100% O2 and naloxone should be administered, activated charcoal only within 1 hour of
ingestion (decreases absorption - not shown to improve outcome), NO
IPECAC/GASTRIC LAVAGE, call poison control, specific antidote

Acetaminophen = N-actetyl cysteine

Benzos = Flumazenil
b-blockers = atropine, isoproterenol, glucagon
CCB = glucagon
TCA = sodium bicarb
Iron = deferoxamine
Nitrites = methylene blue
Opiates = Naloxone
Organophosphates = atropine, pralidoxime
Sympathomimetic agents = phentolamine, b-blockers

UTI - Causative organisms, presentation, evaluation, treatment

CAUSATIVE ORGANISMS: E coli (90% - P fimbriae), Klebsiella, proteus,

enterococcus, pseudomonas, staph saphrophyticus + chlamydia in sexually active girls,

PRESENTATION: frequency, pain with urination, abdominal pain, fever, flank pain;
Neonates = FTT, feeding problems, fever

EVALUATION: Urine Culture and sensitivity, blood cultures if febrile, voiding

urethrogram and renal US for recurring

TREATMENT: bactrim, nitrofurantoin, oral 3gen cephalosporin (cefixime, cefpodoxime),

IV cefotaxime + gent for high fever; Children 7-10 days, Neonates 10 days, consider
hospitalization in children for parenteral

Bronchiolitis - causative organisms, presentation, evaluation, treatment

CAUSATIVE ORGANISMS: RSV most common, also human metapneumovirus,
parainfluenza, influenza, adeno, rhino, and infrequently mycoplasma

PRESENTATION: Cough, coryza, rhinorrhea, progresses over 3-7 days with noisy
breathing, audible wheezing, nasal flaring, tachypnea, retractions, grunting

EVALUATION: RR, pulse ox for severity, RSV swab (ELISA, PCR best), CXR showing
hyperexpansion of lungs, increased lung radiolucency and flattened/depressed
diaphragms

TREATMENT: Albuterol treatment (>6 months?), treat fever, good hydration, upper
airway suctioning, oxygen administration, intubation if necessary *may trigger asthma
attack (treat asthma); hospitalize if < 6 months, O2<92%, apnea, moderate to marked
respiratory distress, inability to tolerate oral feeding, lack of appropriate care at home

Croup - Causative organisms, presentation, evaluation, treatment

CAUSATIVE ORGANISMS: parainfluenza viruses (1,2,3), RSV, influenza, adeno ->

infects middle airways – laryngotracheobronchitis

PRESENTATION: children 6 months to 3 years -> characteristic inspiratory stridor,

barking/brassy cough, hoarseness, low grade fever, respiratory distress
EVALUATION: subglottic narrowing on CXR (steeple sign), rapid tests (PCR or antigen)
are available for parainfluenza, RSV, influenza, adeno

TREATMENT: good hydration, treat fever, oral dexamethasone reduces need for
hospitalization and shortens stay, vaponephrine reduces subglottic edema (adrenergic
vasoconstriction) - marked clinical improvement (rebound effect - treat every 20 minutes
for no more than 1-2 hours in severe cases), keep child calm

Abuse - Common X-ray findings, initial workup

COMMON X-RAY FINDINGS: rib fractures, metaphyseal fractures - multiple fractures

INITIAL WORK-UP: good hx (injuries > hx, hx changes, unexpected delay in seeking
medical treatment), physical exam (unusual bruising/fractures/abd pain/retinal
hemorrhages/genital exam), XR (no kiddygram)
Adolescent development - Tanner Stages, Definition and causes of Precocious
puberty

TANNER STAGES: girls 8-14 takes 4-5 years; boys ~10-11 years, takes 4-5 years

1: childhood genitalia and breasts, no hair growth

2: breast buds, sparse hair, enlargement of scrotum and testes
3: larger breast bud, darker spreading hair, growth of testes, length of penis
4: projection of areola to form secondary mound, adult hair without extension to thighs,
growth of testes, breadth of penis
5: Normal adult genitalia, hair growth (extends to thighs), areola recessed to general
contour of breast

PRECOCIOUS PUBERTY: secondary sexual development in boys < 9; girls < 8 (may
just be early), gonadarche (maturation of gonads and secretion of sex steroids estrogen
and testosterone) and adrenarche (maturation of adrenal glands and secretion of
adrenal sex steroids DHEA and androstenedione); central = gonadarche due to
premature activation of hypothalamic/pituitary/gonadal axis (GnRH dependent);
peripheral = GnRH independent, can be gonadarche or adrenarche

CAUSES: true, HCG secreting tumor in males, leydig cell tumor in males, familial
testitoxicosis, premature adrenarche, granulosa cell tumor, follicular cyst, feminizing
adrenal tumor, premature thelarche

ABNORMAL/NORMAL GROWTH: look at growth curve, diet, parents -> endocrine

workup

Pervasive developmental disorder/Autism - 5 types, classic features, evaluation,

treatment
AUTISM: impairment in reciprocal social interaction, language/communication,
restricted range of activities and interests. Symptoms present by 3 years. delayed social
smiling, don't understand nonverbal communication, socially withdrawn, stereotyped
behaviors (head banging/teeth grinding/rocking), compulsive

ASBERGER'S: Preservation of language development

CHILDHOOD DISINTEGRATIVE DISORDER: rapid deterioration and regression after 2

years of age; normal milestones in first 2 years

RETT DISORDER: MECP2 gene mutation, only in females, developmental regression

after first few months of life, hand wringing stereotypical movements, head
circumference growth dramatically decelerates, motor coordination problems

PDD NOS: significant impairment in development but doesn't meet criteria

EVALUATION: screening tools, MCHAT

TREATMENT: parental education, individualized special education, behavioral therapy,

antipsychotics for aggression/irritability/hyperactivity/agitation

Cystic Fibrosis
ETIOLOGY: AR chromosome 7 - CF transmembrane regulator (CFTR chloride channel
on apical surface of epithelial cells) - deletion of 3 BP (Phe) at 508 is most common.
abnormal secretions

PRESENTATION: F Hx, Chronic respiratory infections (s. aureus, pseudomonas,

allergic aspergillosis), FTT (protein and fat malabsorption), liver disease (cholestatic
jaundice), clubbing, nasal polyposis, steatorrhea, meconium ileus in neonates, insulin
deficiency, fat soluble vitamin deficiencies

EVALUATION: Newborn screen (Immunoreactive trypsinogen levels/DNA tests),

chloride sweat test (>60mEq/L
)
TREATMENT: chest physiotherapy (clear mucus from airways), nebulizer with DNAase
and 7% NS to decrease mucus viscosity, ABX - long courses, culture specific, insulin,
fat soluble vitamins, lipase, Parent education, multi-discipline approach

Malabsorption Syndrome
CAUSES: can be generalized malabsorption or specific
(fat/protein/carbohydrate/vitamin/mineral) malabsorption; short gut, IBD, Celiac,
pancreatic insufficiency, milk/soy protein intolerance

PRESENTATION: FTT, weakness, pallor, vitamin deficiencies, protein deficiencies,

specific symptoms for specific causes
TREATMENT: Gluten free diet, anti-inflammatory drugs, avoid milk/soy/other allergens,
ABX for chronic diarrhea, specific diet for short gut (high med chain fatty acids)

Hypoglycemia in Children

PRESENTATION: depression of CNS from cerebral glycopenia (headache, confusion,

somnolence, dysarthria, personality changes, staring, hunger, convulsions, ataxia,
coma, diplopia), counter regulatory adrenal/epinephrine response (perspiration,
palpitation/tachycardia, pallor, parasthesia, trembling, anxiety, weakness, n/v)

CAUSES: hyperinsulinemia (exogenous, insulinoma), counterregulatory hormone

deficiency (ACTCH def, addison, glucagon def, epi def), def of FA oxidation (reyes
syndrome, hepatitis, sepsis, shock, carcinoma, malnutrition/starvation, heart failure),
drugs (insulin, hypoglycemic agents, alcohol, ASA, propranolol, valproic acid, bactrim)

DIAGNOSIS: blood and urine sample at time of hypoglycemic episode (critical sample),
measure glucose, insulin, GH, cortisol, FFAs, b-hydroxybutyrate and acetoacetate,
serum lactate levels.
TREATMENT: emergency give 2mL/kg of D10W bolus, infusion should be 1.5x the
normal glucose production rate (6-8mg/kg/min), glucocorticoids if adrenal insufficiency
suspected

Hypoglycemia in Neonates

PRESENTATION: neuroglycopenic symptoms (no adrenergic symptoms) -> jitteriness,

feeding difficulties, pallor, hypotonia, hypothermia, episodes of apnea/bradycardia,
depressed levels of consciousness, seizures

CAUSES: counterregulatory hormone deficiency (ACTH, adrenal insuff,

panhypopituitarism, glucagon def, epinephrine def), hyperinsulinism (diabetic mother,
erythroblastosis fetalis, persistent hyperinsulinemic hypoglycemia of infancy,
insulinoma, beckwith wiedemann syndrome, anti-insulin receptor antibodies),
inadequate substrate (prematurity, SGA, MSUD), metabolic disorders (glycogenolysis -
G6PD, glycogen synthase, liver phosphorylase, gluconeogenesis - F16PD, Pyruvate
carboxylase, PEPCK), FA oxidation (carnitine def, FA acyl-coA dehydrogenase
deficiencies, galactosemia, fructose intolerance, propionicacidemia, tyrosinosis, sepsis,
liver failure, heart failure, shock)

DIAGNOSIS: blood and urine sample at time of hypoglycemic episode (critical sample),
measure glucose, insulin, GH, cortisol, FFAs, b-hydroxybutyrate and acetoacetate,
serum lactate levels.

TREATMENT: emergency give 2mL/kg of D10W bolus, infusion should be 1.5x the
normal glucose production rate (8-12mg/kg/min), glucocorticoids if adrenal insufficiency
suspected
Sutures - closing time, failure to close, large fontanelle

CLOSING TIME: frontal 9-18 months, posterior 3-4

CORONAL: brachycephaly

SAGGITAL: scaphocephaly

PARIETAL: plagiocephaly

BRACHIAL: dolichocephaly (vision problems)

LARGE FONTANELLE: rickets, hydrocephalus, osteogenesis imperfecta; (A + B) / 2 =

2.5 inches normally