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ENT · Ear and audiology: congenital syphilis and deafness
Sample itemA 12-year-old has progressive bilateral sensorineural hearing loss, notched peg-shaped upper incisors and corneal haze from keratitis. Which diagnosis explains all three findings?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Congenital syphilis
Hutchinson triad of congenital syphilis consists of interstitial keratitis, notched incisors and eighth nerve deafness. Treatment is with penicillin. Usher syndrome gives deafness with retinitis pigmentosa, and Alport syndrome causes nephritis with deafness.
Option by option
A. Alport syndrome
Alport syndrome gives haematuria, renal failure and lenticonus with deafness.
B. Congenital syphilis (correct)
Correct. Keratitis, Hutchinson teeth and eighth nerve deafness make up the classic triad.
C. Usher syndrome
Usher syndrome has retinitis pigmentosa, not keratitis and dental defects.
D. Waardenburg syndrome
Waardenburg syndrome has white forelock, heterochromia and dystopia canthorum.
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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