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Radiology · Neuroimaging: septo-optic dysplasia
Sample itemA 3-year-old has poor vision, short stature and hypoglycaemia. MRI shows absence of the septum pellucidum, small optic nerves and a hypoplastic pituitary stalk. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Septo-optic dysplasia
Septo-optic dysplasia combines optic nerve hypoplasia, absent septum pellucidum and hypothalamic-pituitary dysfunction. Endocrine screening is therefore essential. A tumour would show a mass, and holoprosencephaly shows failure of midline cleavage.
Option by option
A. Holoprosencephaly
Holoprosencephaly shows a fused ventricle and severe midline failure.
B. Optic pathway glioma
Optic glioma enlarges the optic pathway rather than shrinking it.
C. Septo-optic dysplasia (correct)
Correct. The triad of absent septum, small optic nerves and pituitary dysfunction is characteristic.
D. Craniopharyngioma
Craniopharyngioma presents as a calcified cystic suprasellar mass.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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