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Original Article

A case of atypical neurofibromatosis type 1.

Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim

Clin Exp Pediatr. 1991;34(7):1034-1039. Published online July 31, 1991

Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin. These macules are thought to be early sign of neurofibromatosis in childhood. We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly. We confirmed the...

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