Saturday, May 12, 2012

Tuberous sclerosis

-a neurocutaneous syndrome

Tubers in the brain

Ash leaf hypopigmented macules on the skin, more visible under uv light (woods lamp), facial angiofibroma, forehead plaques, periungual fibroma,

Retinal harmatoma

Presents in infancy with infantile spasms (seizures)  which may be confused with colic. (may be described as head bobbing, doubling up etc) Treat with ACTH

Dental involement (pits), lung involvement etc

Cardiac harmatoma

There may be learning disabilities, mental retardation or epilepsy.

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