22q11.2 deletion syndrome — formative SAQs

SAQ 1 (10)

A term neonate is transferred to the neonatal unit at twenty-four hours of age with respiratory distress and a mottled appearance. Examination reveals a systolic murmur, weak femoral pulses, a bulbous nasal tip and small ears, and a cleft of the soft palate. A corrected calcium returns at 1.5 mmol per litre. A standard karyotype has been reported as normal. ^{[1] [2]}

a) What is the most likely unifying diagnosis, and which investigation — that has not yet been performed — will confirm it? Explain why the test already done was inadequate. (3 marks) ^[1]

b) Outline the full systems-staging work-up that should be performed at diagnosis, naming at least six components and the specific harm each prevents. (3 marks) ^{[2] [3]}

c) State the immediate management of the hypocalcaemia, including the acute and the maintenance approach. (2 marks) ^[8]

d) The family asks about the rotavirus and BCG vaccines due on the schedule. State the principle that governs live vaccines in this child, and how the schedule is cleared. (2 marks) ^[9]