Spot Diagnosis

Tuberous sclerosis

Question :
This child presented with seizures, mental retardation and hypertension.

What is the diagnosis?

Discussion :
Tuberous sclerosis. This child has a café au lait spot over the thigh suggestive of a neurocutaneous disorder. Presence of skin, brain and kidney disease (hypertension) makes one suspect tuberous sclerosis. The CT did show presence of tubers. Renal Doppler showed lipoangiomatous changes of renal vessels.

Correct Answers : yes  56%

Last Shown : Feb 2010
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