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Ophthalmology · Lens and cataract: galactosaemia screen in congenital cataract
Sample itemA newborn has bilateral cataracts, jaundice and vomiting after milk feeds. Which treatable condition must be urgently excluded?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Galactosaemia
Classical galactosaemia due to deficient galactose-1-phosphate uridyltransferase causes oil-droplet cataracts, liver disease and sepsis susceptibility. Stopping lactose and galactose can prevent or even reverse the cataract.
Option by option
A. Galactosaemia (correct)
Correct. Cataract with vomiting and jaundice after milk feeds suggests galactosaemia, which is dietary treatable.
B. Wilson disease
Wilson disease causes copper deposition and does not present in the neonatal period.
C. Alport syndrome
Alport syndrome causes haematuria and lenticonus, not neonatal jaundice and cataract.
D. Marfan syndrome
Marfan syndrome causes ectopia lentis rather than neonatal cataract.
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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