Thursday, August 20, 2015

Big Cat

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.


RaH said...

i am thinkingof DiGeorge or Noonan syndrome...

Craig Chen said...

good thought - esp with the hypertelorism
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.