Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Jun 10, 2012.
What's your diagnosis?
I'll post the correct answer in a few days!
[Broken External Image]:http://www.50centloseweight.com/jhkh.gifAlport syndrome
Alport syndrome:Triad of Sensorinuronal deafness;ocular abnormalities;renal involvement evident from haematuria in pot from image
I can understand the thought of it being Alport syndrome, but it doesn't fit this case that much. The dark spots we see in de sclera are caused by dysfunction of tyrosin and phenylalanin metabolism; there is no lenticonus like seen in Alport. Also that bottle of urine is not stained with blood; it's entirely black because of the products associated with metabolism disorder being released in it. The picture of the ear shows dark ear wax and darkening of the external ear's skin as well; in alkaptonuria, besides the urine, sweat, skin and ear wax can become dark, once again because of the metabolism disorder.
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