Challenge: What's this autosomal dominant disease?
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Thursday, August 20, 2015
Big Cat
Challenge: What's this autosomal dominant disease?
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This adolescent girl started developing these spots during infancy and early childhood. They mostly involve the face, upper trunk, and neck. These were expected since she has some characteristic facial features of a particular syndrome, with abnormally wide set eyes, deafness, and growth retardation. Her astute pediatrician checked an EKG and found conduction abnormalities. A subsequent echocardiogram showed pulmonic stenosis.
Challenge: What's this autosomal dominant disease?
Image shown under Fair Use.
I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
Challenge: What's this autosomal dominant disease?
Image shown under Fair Use.
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2 comments:
i am thinkingof DiGeorge or Noonan syndrome...
good thought - esp with the hypertelorism
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Big Cat
This is LEOPARD syndrome due to a mutation in tyrosine phosphatase. It stands for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness.
Source: UpToDate.
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