32. Paediatric Cases 4 (3)

Question 1

Initial genetic investigation in paeds illness?

Answer 1

Qualitative fluorescent PCR/FISH, returns in 48h

Question 2

Duodenal atresia signs on Xray:

Answer 2

Double bubble appearance, air in the stomach and air in the 1st part of duodenum, but no air further in the GI tract

Question 3

What is the diagnostic test for sickle cell disease?

Answer 3

Heel prick test

Question 4

What is the inheritance pattern of sickle cell disease?

Answer 4

Autosomal recessive

Question 5

What drugs should be taken in sickle cells?

Answer 5

Penicillin V and Folic Acid

Question 6

What causes sickle cell crisis?

Answer 6

Parvovirus infection -> aplastic crisis

Question 7

What is the management of aplastic crisis?

Answer 7

Transfusion

Question 8

How to diagnose Duchenne muscular dystrophy?

Answer 8

Creatinine kinase high levels due to muscle breakdown + muscle biopsy and genetic testing

Question 9

What is the inheritance pattern of Duchene muscular dystrophy?

Answer 9

X-linked recessive

Question 10

What is the inheritance pattern of neurofibromatosis?

Answer 10

Autosomal dominant

Question 11

Neurofibromatosis signs:

Answer 11

• Café au lait spots
• Axillary freckling
• Bony lesions,
• Optic nerve glioma
• Iris haematomas

Question 12

Which genetic condition is causing coarctation of the aorta?

Answer 12

Turner syndrome (45 X0)