Friday, April 17, 2009


This child with a history of mental retardation presents to your emergency room with a witnessed seizure. Her past medical history is significant for many prior seizures, a cardiac rhabdomyoma detected on prenatal ultrasound, and multiple renal cysts. On exam, you note several lesions looking like the image shown below.

Challenge: What is the strange diagnosis here?

Related Questions:
1. What is shown in the first image?
2. What is shown in the second image?

Both images are in the public domain.


Alex said...

von hippel lindau?

Alex said...

whoops - tuberous sclerosis

Craig Chen said...

Nice job checking your answers! I always get VHL, tuberous sclerosis, and neurofibromatosis confused.

Tuberous sclerosis is an autosomal dominant neurocutaneous disorder with multiple benign neoplasms of the brain, eyes, heart, lung, liver, kidney, and skin. Vogt's triad of seizures, mental retardation, and facial angiofibromas is described here; however, the disease is very heterogeneous. The first image shows an angiofibroma, an erythematous papule made up of fibrous tissue. The second image shows a hypopigmented "ash leaf macule" with "confetti hypopigmentation" as scattered white spots around it. There are many diagnostic criteria, which will not be reviewed here.

Sources: UpToDate;