fop

Question 1

Rubella Triad

Answer 1

cardiac (most common PDA and pul artery stenosis)
Hearing impairment (sensironeural)
cataracts

Question 2

Zika virus clinically

Answer 2

• microcephaly
• intracranial calcifications
• ocular abnormalities
• hypertonia
• arthrogryposis

Question 3

Galactosemia

inheritance, enzyme,clinical,diagnosis and management

Answer 3

-autosomal recessive
-galactose 1 phosphate urydel-transferase
-hypotonia, jaundice, poor growth,cataracts
at greater risk for E.coli sepsis
-management:remove lactose from diet
-diagnosis: beutlr test

Question 4

Medium chain acylcoenzyme A dehydrogenase deficiency (MCADD)

inheritance, clinically

Answer 4

• autosomal recessive
• high acylcarnitine
• mitochondrial fatty acid beta oxidation disorder
• hepatomegally is a feature of metabolic crisis
• hypoglycemia: seizures,jitterness
• management: avoid fasting

Question 5

Pompe Disease

Type 11 Gylcogen storage disease

Answer 5

• autosomal recessive
• def in lysosomal alfa glucosidase
• rapidly progressing muscle weakness and hypotonia
• cardiomyopathy
• hearing loss
• large protruding tongues

Question 6

Listeria monocytogenes infection

Answer 6

• gram positive rod
• can result in preterm labour,stillbirths,abortions
• present with signs of sepsis
• granulomatosis infantiseptica (small pale nodules)
• late presentation: purulant meningitis
• amoxicillin is first line

Question 7

most common extracranial tumor in children

Answer 7

Neuroblastoma

Question 8

moebius syndrom

Answer 8

underdevelopment of the facial nerve and the abucent nerve -> facial paralysis and inability to abduct the eye

• bilateral fixed convergent squint
• feeding difficulties
• drooling
• underdevelopment of the pectoral muscle and the cleft palate

Question 9

duane syndrome

Answer 9

rare, congenital abnormal development of the 6th cranial nerve

Question 10

Gaucher disease

Answer 10

rare, metabolic disorder
sphingolipids build up in liver ,spleen,kidneys,brain,lung

opthalmo: cannot move eyes horizantally
seizures, skin pigmentation, hypotonia

Question 11

Lowe Syndrom

Answer 11

-oculocerebrorenal syndrom
-cataracts/glaucoma,buphthalmus
-severe progressive learning difficulties
can develop fanconi syndrom

Question 12

eczema management

Answer 12

Mild: hydrocortisone 1%

moderate: clobetasone
severe: betamethasone

Question 13

HIV postexposure prophylaxis

Answer 13

can be offered upto 72 hours after exposure
should be continued for 28 days
testing 45 days after course is complete

Question 14

Asthma Diagnosis

Answer 14

Peak variability over 20%
FEV1/FVC ratio < 70%
Bronchodilator reversibility test > 12%
fractional exhaled nitric oxide 35 ppb