This young man has epilepsy and mental retardation.
The picture shows Shagreen patch(leathery skin patch over the back) and adenoma sebaceum(shiny papules at the nasolabial fold), classical of tuberous sclerosis.
The 3 neurocutaneous syndromes that medical students and MRCPian need to know include neurofibromatosis, tuberous sclerosis and Sturge Weber syndrome.
Tuberous sclerosis is an autosomal dominant disease characterised by multiple organ hamartomas.
Skin - Adenoma sebaceum(angiofibromas), subungal fibroma, Shagreen patch, ash leaf macules
Renal - Angiomyolipomas
Cardiac - Rhabdomyosarcomas
CNS - Subependymal nodules, Cortical tubers, benign white matter lesions, subependymal giant cell astrocytoma
Eye - retinal phakomas
If you get this in the exam, dont forget to ask about seizures and mental retardation !
Also I just advised my houseman just now that if you see a patient in the ward that came in for seizure, do not forget to look for neurocutaneous signs.(was previously thought to me by my consultant neurologist)
THE EYE DON'T SEE WHAT THE MIND DON'T THINK !(was told to me by my lecturer)
2 comments:
the eyes dont see what the mind doesn't know? - thats what my vascular surgeon/ prof told me last time :)
Tuberous sclerosis is a multi system genetic disease which causes non-malignant tumours in the brain. The tumours also grows in kidneys, lungs, eyes and skin. The lesions in eyes is the opthalmic findings in a human being. About 60% of people have ocular abnormalities.
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