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January 29, 1938

A Fourth Type of Phakomatosis: Sturge-Weber Syndrome

JAMA. 1938;110(5):394. doi:10.1001/jama.1938.02790050072040

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Abstract

This small but excellent monograph concerns a syndrome characterized by cutaneous telangiectasis in the face and parts of the body that are associated with buphthalmos, abnormalities of the blood vessels of the choroidea, and cerebral abnormalities manifesting themselves by imbecility, epilepsy and paralyses usually on the side contralateral to the facial nevus. This is called the fourth type because three other types have been described before. These are (1) tuberous sclerosis (Bourneville's disease), (2) multiple neurofibromatosis (von Recklinghausen's disease) and (3) angiogliomatosis retinae and cerebelli (von Hippel-Lindau disease). There is a good bibliography.

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