[Enter Post Title Here]

‫ ارقام كرموسومات‬:

Tuberous sclerosis 1&2. (9,16)

Neurofibromatosis 1&2. (17,22)

Polycystic kindey AR&AD (6,16)

➡➡ PAN*HYPOPITUTARISM

 Neonate
 Hypoglycemia
 Hypothermia
 MICROPENIS
 +\ - Notmal thyroid hormones (bcz it is usu
high in the first week of life)
 Electrolyte disorderer like CAH

Investigation of choice:

 Cranial ULTRASOUND
 If later
- Cranial MRI

-= Rette syndrome

 Girl
 Neuroregression
 repetitive hand movements
 gen MECP

➡ *Type lb *(G6P translocase)

 Oral ulcers. (Due to IBD association)

 Abscesses (Due to neutropenia)
 Hepatomegally
 Hypoglycemia
 Glycogen storage disease
 ttt:
 Frequent day feeding+
 over night feeding (starch)
 Add cotrimoxazol for recurrent mouth ulcers
 Nutrepenia
  Hyponatremia

* macrocytic anaemia workup*

MCV >100

 Is there Megaloblastic changes ( hypersegemented Neutrophilis)?

o Test for Both VitB12 & Folate & ttt accordingly Note donnt ever ttt folate def. before u
make sure normal level of B12 !!
 If both deficiences are present
o Refere to haematologist
 Is there Non_megaloblastic changed?
o Do Retics count>>>>
 High Retic goes with haemolysis
 Low Retics with congenital Aplastic anaemia e.g Diamond blackfan , Fanconi
Anaemia , Pearson syndrome )& also with hypothyrosism & Hepatic diseases

Note about pearson syndrome ��

 Its variant form of sideroblastic anaemia with Pancreatic insufficiency

 Put in yr mind as differential diagnosis with: Diamond blackfan anaemia & TEC

treatment of lyme disease

 if age >12 years

o give doxacycline
 age <12 years give amoxicillin
 without complictio 14 to 21 days
 duration of treatment 21days in :
 1/erythema migrane
 2/peripheral and cranial nerve involvment
 3/carditis
 28days in 1/arthritis
 2/acrodermatitis chronica atrophica
 ceftriaxone : unstable Pt with complication
 in CNS complication and haemodynamically unstable if age >12years
 and age <12 years
 carditis stable or non stable
 and CNS involvement

IN LEUKEMIA

IF YOU FIND

 LYMPHOBLAST ➡ALL
  AUER RODS. ➡AML
 MONOCYTOSIS➡ CML

persistent fetal circulation or (PPHTN)of new born

 presentation with low oxygen sat (preductal to post ductal gradient more or =10% in abscence
of structural heart disease
o peripheral poor puls
o mottled peripheries
o all normal :
 1/ heart sound no murmur
 2/normal chest x-ray
 3/normal upper mediastinal width
 ttt
o nitric oxide (alternative sildenifal) OI=20%
o HFV OI= mor than 25%
o ECMO OI= mor Than 40%

Contraindications to UAC

 Vasopressor medication like epinephrine ..dopamine.. dobutamine

 Calcium boiluses
 Anticonvulsant
 Indomethacin

Primary hyperparathyroidism ( both adenoma and hyperplasia)

 *VERY High s.ca

 *High parathyroid hormone

(Source Nelson text book and emedicine)

Pseudohypoparathyroidism(Albright osteodystrophy)

 Low s.ca
 High s.ph
 High parathyroid hormone
 Basal ganglia calcification
 With some physical finding:
o Short
 o Obese
o Round face
o Dental hypoplasia
o Brachymetacarbal (short 4th and 5th)

Alagille syndrome AD =5 P

 Pecvilar face
 Posterior embryotoxin
 Pulmonary stenosis
 Paucity of inta hepatic
 biliary redicles
 P = Butter fly vertebra

NON_KETOTIC HYPERGLYCINAEMEA

 #increase fetal movement in utro

 #present in first 2days of life with:
o Hypotonia,seizer, stupor, coma,hiccup which is particularly helpful hint.
 DIAGNOSIS BY:
o Plasma and Csf glycine
o INCREASE RATIO of CSF:PLASMA glycine is pathognomic
 NO treatment, over 50 percent will die in th first wk of life

High Na in

1- salt poisoning >>increase ECFV (extracellular fluid volume ) and in urin

2- primary or secondary hypodipsia >>normal ECFV +urine osmolarity >>700

3- diabetes insidipus normal ECFV+ urine osmaolarity <<700+ decrease ECFV

4-osmotic diuresis, diuretics

urine osmolarity <700 +urine sodium >20

5-extrarenal water loss e.g skin, git

Urine osmolarity >700,urine sodium <10 +decrease Ecfv

➡*Horner’s syndrome

 *UNILATERAL:
o Ptosis +*meiosis*(constricted pupil)

➡ 3rd ne rve palsy

 Ptosis+ mydriasis(dilated pupil)

Bilateral ptosis =mysinea gravies

�Cherry:

 �Tree �Taysack
 �Never�Niemanpick
 �Grow�GM1
 �in SAND �SANDhoff
 �FARm �FARber

(short synthacten=ACTH test) one dose ACTH im ,then measure cs after 30min>>no rise of cortisol >>
‫اكيد‬adrenal insufficiency .

‫ لغاية هنا ما عرفناش المشكلة‬primary or secondary

‫ عاوزين نعرف فين السبب نعمل‬long synacthen test ‫ تالت جرعات‬ACTH ‫ كل يوم جرعة واحدة عضل و نقيس‬cs

No increase in cs >>>adrenal =primary = i.e addison

Slooooow rise of cs (kick started into action ‫) خبطنها خبطة بدءت تشتغل‬in secondary causes hypothalamic or
pituitary .

Radiological stage of NEC ●●●

 Stage 1 = suspected :
o NORMAL OR INTESTINAL DILATATION
 Stage 2= definite NEC :
o SIGNIFICANT DILATATION, PNEUMATOSIS INTESTINALIS , PORTAL VEIN GAS +/_ ASCITES
 Stage 3 = ADVANCED :
o PNEUMOPERITONEUM +/_ ASCITES

Letterer Siwe disease ===== Most severe form of largerhans cell histiocytosis

 Features:-
o ➡ Fever
o ➡ Anemia
o ➡ Generalized lymphadenopathy
o ➡ Seborrheic dermatitis-like rash
 Diagnosed by
o skin biopsy and lymph nodes biopsy, will find (birbeck granules seen by Electron
Microscopy)
 Treatment :- chemotherapy

‫مساكات بالعربي‬

‫زياده االنسولين ركيوارمينت هايبرثايرويدسم‬

‫نقصان االنسولين ركيوارمينت‬

‫ادرينال‬

: If patient said that his insulin requirement decreased and his Hb A1c is high this is poor adherence
think about (diabulemia )

�������

Incease insulin requirement + High HbA1C hyperglycaemia

 3 possibilities:
o Wt loss >>thyrotoxicosis
o Poor addherent ( dont take insulin)
o With puberty as there insulin resistent
 (as there Hypoglycaemic & inceased HbA1C high )
o Addisson disease
o Decreas insulin requirement In celiac

�������

If given scenario of a sickller pt or pt of h spherocytosis

Labs showed low Hb with low retics

Think of PARVOVIRUS B19 and EBV

Androgen insensitivity :

Partial: phenotypically male but under virilised

Total: phenotypically female,either presenting early with inguinal hernia,

Or in adolescence with primary amenorrhea.

Both of them are genotypically Males and have high testosterone level.

(High Yield Facts )

�����������

Neurofibromatosis type 1:
Annual follow up:

=Growth &development

=BP

=Ophthalmology (for optic gliomas)

=If there are neurological symptoms ➡CT

so it it not routinely required

Ref:SOP

���������

Low dose (overnight) dexamethasone suppression test will differentiates between Cushing syndrome >>
cortisol not lowered by dexamethasone but in &&& stress or/obesity or/depression >> cortisol will be
lowered

High dose dexamethasone suppression test cortisol will be suppressed in Cushing disease but not in
syndrome or ectopic cause.

Incease insulin requirement

High HbA1C hyperglycaemia

3 possibilities:

Wt loss >>thyrotoxicosis

Poor addherent ( dont take insulin)

With puberty as there insulin resistent

Depends on scenario....

(as there Hypoglycaemic & inceased HbA1C high )

Addisson disease

Decreas insulin requirement

�����

�����������

*UNILATERAL:
Ptosis +*meiosis*(constricted pupil)

➡*H ’ y m

Ptosis+ mydriasis(dilated pupil)

➡ 3rd nerve palsy

Bilateral:

Ptosis + normal pupils

➡ Myasthenia gravis

R l c l t f NEC ●●●

Stage 1 = suspected : NORMAL OR INTESTINAL DILATATION

� � ����

Stage 2= definite NEC :

SIGNIFICANT DILATATION, PNEUMATOSIS INTESTINALIS , PORTAL VEIN GAS +/_ ASCITES

�������

Stage 3 = ADVANCED :

PNEUMOPERITONEUM +/_ ASCITES

‫ ❤ال‬breathhold Baby cringing then pale then cynose and loss of consc type ‫برضوو‬

‫الفكره كلها‬
‫ ال‬breathhold ‫ بيكون في هستري بتاع دلع كده انو ابوه رفض يديها التلفون او حاجه مشابهه فبتحصل ال‬attack ‫دي‬

‫ لكن ال‬reflex anoxic seizure ‫ هي الزم ف الهستوري تكون مسبقه بي‬trauma ‫ حتي‬minor ‫يعني بيلعب ف البارك وقع كده يعني‬

‫ و المشابهه ليها هي‬vasovagal attack ‫ و هي دايما بتكون مع ال‬stress or long stamding ‫ يعني‬its just as physiological
response of body through vagal stimulation

‫ اعتقد انو دي الفروقات البينهم و دايما بيجيبوهم‬as differentials ‫اتمني اكون فرقتهم صح‬

‫��� لو في كومنت ي ريت تزودو ي حلوين‬

Oral ulcers. (Due to IBD association)

Abscesses (Due to neutropenia)

Hepatomegally

Hypoglycemia

➡ *Type lb *(G6Ptase translocase):

Glycogen storage disease

ttt:

Frequent day feeding+

over night feeding (starch)

Add cotrimoxazol for recurrent mouth ulcers

1/4 Masaka..

(Down .William.turner..)

associated with celiac disease..

�����������

Radiolucent stones:

Xanthine
Cysteine

Uric acid

: Morphine changing dose from I.v to oral or vice versa;

‫ عموما إذا عايزين نحول من‬IV or SC ‫ إلى‬oral ...

** IV to oral × 2

* SC *morphine to oral morphin ×2

* SC *diamorphine to oral × 3

‫ وطبعا اذا عايزين نحول من‬oral ‫ إلى‬IV or SC ‫ بنقسم ع األرقام نفسها‬...

‫ ع حسب العندنا‬3 × ‫ أو الضرب‬2 × ‫ فنالحظ اختالف الضرب‬morphine ‫وهنا بضر‬t2 × ‫ب‬

Or

diamorphine 3 × ‫وهنا بضرب‬

,,,,,,,,

�Metabolic alkalosis with normalBP:

_duratics

_vomtting ,laxzative

_bartter $

_cystic fibrosis

_postnephrotic syndrosyndromm diuresis

�Metabolic alkalosis with high BP:

_primary hyper aldostronism

_renal artery stenosis

_renin producing tumours

_adrenal carcinoma

_liquorice
ADHD: Methylphenidate is initial therapy .because of it is side effects on appetite suppression height
and weight should be checked every 6 months. and also full cardiovascular assessment should be carry
out. Atomoxetine and Dexamfetamine are used if Methylphendate unsuccessful. �����

� In acute nephritis renal biopsy indicated: ➡creatinine abnormal beyond 6 weeks. ➡low
C3 persist beyond 3months. ➡proteinuria persist beyond 6months.

Plasma osmolality greater than urine osmolality + Reduced plasma volume + Dilute urine +low urine
sodium ➡ DI

Urine osmolality greater than plasma osmolality + Reduced plasma volume + Concentrate urine + low
sodium ➡ Extra renal fluid loss (diarrhoea & vomiting )

Urine osmolality greater than plasma osmolality + Normal circulating plasma volume + Hypernatramia +
High urinary sodium ➡ high sodium intake (salt poisoning )

Investigation to diagnosis coeliac disease ..

�IgA —-> should be normal

To do IgA Anti tissue transglutaminase antibodies

�� If > 10 times the upper limit of normal

�To confirm by :

1�HLA DQ2 or DQ8 positive

2�positive anti -endomysial antibidy

�� If high but not reach 10 times the upper limit

�should be confirm by duodenal biopsy

�if deficiency in IgA do Igg

UAC

High level Form T6 toT10

Lower level L3 to L4

UVC

Higer level T8 toT9 not insaid heart

Lower Lower border of liver not insaid

�������

Low s. Copper & low ceruloplasmin >>>menkes kinky synd

High serum &urinary copper & low ceruloplasmin >>>Wilson disease

�������masakat ���������

Normal porphobilinogen &high delta aminolevulinic >>>> lead poisoning

High both >>>> porphyria

❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣

mother with PWS : m t l t l my c l t ct

Mother PWS dt microdeletion >> child will be angleman 50%chance

❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣❣

asymptomatic pusodomonus isolation first time. CC####ciprofloxcin*colostimate neub.

Symptomatic#CT#CT. Ceftazidime*tobramycin IV for 2wk CT ‫التانيه‬colostimate*t myc
l

: ���Masssakat���

Screning of complication in DM pt :

�_Coeliac ➡at diagnosis

�_thyroid ➡at diagnosis and annually

_�retinopathy+microalbumin urea+BP➡anually from the age of12y

��������

FVC + FEV1 both low = restrictive lung disease

eg.scliosis,muscular dystrophy , fibrosis alviolitis

FVC near normal + low FEV1 = obstructive lesion

eg . Bronchial asthma

FVC low + FEV1 a lot lower = mixed respiratory disease

eg. cystic fibrosis

Masakat

Nephrogenic diabetes insipidus ➡hypernatraemua and decresed sodium in urine

Salt poisning ➡

Hypernatraemia abd high sodium in urine

SIADA➡

Hypo atramia and high sodium in urine

Water intoxication➡

�������

Hyponatramia and low sodium in urine

nsitivity.

������ Female pseudohermaphroditism ( XX) karyotype most commonly dueto adrenal hyperplasia due
to 21 hydroxylase deficiency which lead to increased 17 hydroxyprogesterone. ����

������������

Hypernatraemia with normal potassium

Salt poisning

Dehydration

�� ‫االتنين دول هالقي معاهم‬

high urine osmolarity

�������

Nephrogenic diabetes insipidus

‫ دي هالقي معاها‬l

Low urine osmolarity

�����������

MODY3 (HNF1A,HNF4A)

➡ Sulphonylurea
MODY2 (Glucokinase)

➡ No*treatment daite and excersis

MODY(*HNF1B*)

➡ Associated with renal cysts

������������

Neonatal Dm:

*Sulphonylurea*

CF DM:

Insulin

Test: ogtt more than 10

HA1C in less than 10

�������

Recurrent croup

Mean more or equal 2croup/years

�Requires investigation

�Rollout atopy

:Layngiotrachoponchscopy

�May need CT or MRI

���

Indication of cpap in bronchiolitis :

RR more 60

Faliure of o2

PH less 7.2

PCo2 mre than 3kpa from base line

Sever intercostal resstion

�����
�FAMELIAL HYPER CHOLESTROLEMIA➡

AD.

⬆LDL

⬆Cholestrol

Ttt➡cholestyramine(statins )

Except heterozygous less than 10 years

� CHILOMICRONEMIA

AR.

⬆TRIGELCERIDE

⬆CHOLESTROL

MILKY SERUM

Ttt➡low fat diet

Adviced fish l m

GBS syndrome

Diagnosis by csf analysis

Confirm diagnosis by nerve conduction study

�����

[Increase insulin requirement in diabetic patient may come in many scenarios

First

Weighr loss and tachycardia hyperglycemia think of thyrotixicosis

Second

Teenage with history of good diabetic conteol ➡ insulin resistance with puperty

Third

History of poor adherence

Last
Athe

Last athelete with increase in excecise ➡ buliemia ������

(HIGH YIELD FACTS)

�����

�De Quervain's *subacute thyroiditis*�

➡painful swelling of the thyroid GLAND + hyperthyroidism for few days after viral Infection, sometimes
followed by hypothyroidism until full recovery. (Transit hyperthyroidism)

*ttt*

*Treat symptoms*

➡if Palpitations and thyrotoxicosis give beta-blockers.

➡To relieve pain give NSAID.

�������

Masakat

Causes if microabgipathic haemolytic anaemia

Hus

Dic

Thrombotic thrombocytopenic purpura

Hamangioma

Some malignancies

Prothetic valve

������

*brown syndrome*

�congenital or acquired

�caused by malfunction of superior oblique muscle causing the eye to have difficulty moving up,
particularly during adduction ( when eye turns towards the nose).

*Duane syndrome*

� ( also called Duane retraction syndrome )

�congenital (abnormal developement of 6th cranial nerve)

♦characterized by

�inability of the eye to move outwards

�retraction of eyeball during adduction with narrowing of palpebral fissure( eye closing)

�less marked limitation of adduction ( inward )

�widening of palpebral fissure on abduction

*Parinaud's syndrome*

( Also called vertical gaze palsy, sunset sign)

�Characterised by

♦inability to move the eyes up and down.

� caused by compression of the vertical gaze center in the midbrain

(at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF)).

=(Mobeus syndrome: 6and 7CN pulsy

Differential diagnosis of *Agensis of corpus collasum:*

* chromosomal mutations ( 8,9,13,18)

* Inborn errors of metabolism ( Nonketotic hyperglycinemia, neonatal adrenoleukodystrophy ,

pyruvate dehydrogenase deficiency )

* Teratogens ( maternal alcohol , cocaine use )

* Aicardi syndrome ( combination of agensis corpus collosum , chorioretinal lacunae , infantile spasm )

* Recurrent hypothermia ( shapiro syndrome)