Pead3

Question 1

Glucose-6-Phosphatase deficiency?

Answer 1

Glycogene -1-storage(Von Gierke disease)
Typically present 3-4 month age
Due to the absence of enzymes in the Liver, Kidney, and intestine
Hypoglycemia
Hepatomegaly
Lactic acidosis
Hyperuricemia
Hyperlipidemia
Doll like face
Thin

Question 2

Cause of asplenia?

Answer 2

Anatomic(Surgery, absence)

Functional(autoasplenia due to fibrosis(SCD),Infilitrative disease(sarcoidosis),Chongestion(PHTN)

Question 3

Complication?

Answer 3

High risk of encapsulated organism asplenia

Holy jolly bodies(precipitated nuclei remaining)

Question 4

What about Heinz’s body?

Answer 4

Seen in G6PDH deficiency
Is precipitated Hb
Seen by Special stain(Crystal Violate), unlike HJB which can be seen by wright stain.

Question 5

What about basophilic striping?

Answer 5

Multiple, blue-green pigment on pheriphery

Question 6

Sign of hypotonia in Down Syndrome?

Answer 6

protruding tongue
flaccid abdomen
Loss of extremity flexion(slip from examiner’s hand)

Question 7

Visual acuity testing In children?

Answer 7

All children age 3-4
Snell chart
HOTV or LEA(Pic) in not lerned child

Question 8

All other tests should be done routinely?

Answer 8

Red reflex testing(cataract & retinoblastoma)
Corneal reflex(alignment)
Cover test for old children to assess strabismus

Question 9

Indication for the referral?

Answer 9

Pupil asymmetry >1 mm
<20/40 at age 4 and <30/40 in 5 and above
Nystagmus
Ptosis
other conditions obstruct vision

Question 10

Autism screening?

Answer 10

at 18 month/2 year

Question 11

Depression?

Answer 11

at age of 12

Question 12

Laryngomalacia?

Answer 12

A common cause of stridor in infants.

Question 13

CM?

Answer 13

Inspiratory stridor
Increase inspiration(feeding,crying) exacerbate stridor
GERD feature
Omega shaped epiglottis

Question 14

management?

Answer 14

mainly resolve by 18 month

Surgery indicated in case of RD, Cyanosis, and failure to thrive

Question 15

Stridor types and cause?

Answer 15

supraglottic lesion–Inspiratory S
Subglottic lesion–Biphasic
Tracheal(Intratoracic airway)–Expiratory

Question 16

Henoch-Schonelin purpura pathogenesis?

Answer 16

IgA mediated leukocytoclastic vasculitis

Question 17

CM?

Answer 17

Palpable purpura
Arthritis/Arthralgia
Abdominal Pain
Intussusception
IgA nephropathy similar renal feature

Question 18

Lab?

Answer 18

Normal platelet and coagulation
Normal/Raised Cr.
haematuria
\+/- proteinuria/RBC cast
Nephritic/nephrotic syndrome in adult

Question 19

Managment?

Answer 19

Suportive(fluid and NSAID)

admission and systemic CS in sever case

Question 20

Kawasaki disease complication?

Answer 20

Aneurysm–thrombosis–MI

Question 21

Chronic granulomatous disease feature?

Answer 21

X-linked recessive
Recurrent pul. and skin infection
Catalase producing bacteria(S,A ,burkloderia,seratia and aspargilus)

Question 22

Diagnosis?

Answer 22

DHR test

NT test

Question 23

How about Hyper IgE(Job syndrome)?

Answer 23

may have rec skin abscess and pul infc. but the patient will have facial deformity(broad nose) and bone abnormality(scoliosis) and strong family Hx(AD)

Question 24

TODD paralysis?

Answer 24

Occur in post ectal phase
Flaccide weakness/paralysis 
Involve one/both extremities in one side
due to nuronal exusion
CT recommended to r/o other serious cause
The seizure may not be witnessed

Question 25

Heamoglobine concetration in normal individual?

Answer 25

HgA--95-98 HgA2-2.5% FH--<1 % SSH--Absent

Question 26

HgA1?

Answer 26

Thalassemia Mi/SST--Low | Thalassemia Mj/SSD--Absent

Question 27

HgA2?

Answer 27

Hihg in Thalassemia mi/Mj | Normal in SSD/SST

Question 28

HgF?

Answer 28

Near normal in Thalasemia Min/SST | High in Thalasemia Maj/SSD

Question 29

SShb?

Answer 29

high in SSD/SST but absent in thalassemia

Question 30

Thalassemia major cxs and Tx?

Answer 30

hemolytic Anemia Splenomegaly treat by frequent transfusion and chelation for iron overload

Question 31

Cause of pneumothorax in neonates?

Answer 31

HMD MAS Due to rapture

Question 32

Managment?

Answer 32

If life-threatening emergency needle thoracotomy Continue If pat on CPAP Reduce PEEP if on MV

Question 33

What to do inpatient with hypospadias?

Answer 33

leave circumcision karyotype-Asses mosaicism renal U/S(asses internal genitalia)

Question 34

what is associated with it?

Answer 34

Undescended tests Cordea Conjecital hernia

Question 35

effect of maternal estrogen on neonates?

Answer 35

Breast enlargement Luckorachia minimal Vx bleeding(withdrawal) Labia enlargement

Question 36

Managment?

Answer 36

Transient | Not need workup

Question 37

spontanious Pnumomediatrnum CM?

Answer 37

``` Acute chest pain SOB Cough Subcutaneous emphysema Crunching sound over the heart ```

Question 38

diagnosis?

Answer 38

C-X-ray

Question 39

managment?

Answer 39

rest analgesics avoid valsava

Question 40

Risk factor?

Answer 40

RTI asthma exacerbation Tall, thin adolescent

Question 41

mickle diverticulum symptoms?

Answer 41

asymptomatic lower GI bleeding Anemia

Question 42

complication?

Answer 42

Volvulus Intussusception Obstruction

Question 43

Diagnosis and managment?

Answer 43

TEC scan | Surgery if symptomatic

Question 44

Etiology of galactosemia?

Answer 44

AR | Due to GALT deficency

Question 45

CM?

Answer 45

``` Cataract Hepatomegaly Jaundice Vomiting and failure to thrive Hypoglycemia High risk of E.Coli sepsis ```

Question 46

Lab?

Answer 46

Bilirubin elev. Metabolic acidosis Low glucose + urine reducing substance