All issues > Volume 34(7); 1991

Original Article

J Korean Pediatr Soc. 1991;34(7):1034-1039. Published online July 31, 1991.

A case of atypical neurofibromatosis type 1.

Eun Joo Choi¹, Young Hyuk Lee¹, Min Hee Kim¹, Kyo Sun Kim¹

¹Department of Pediatrics, Konkuk University, College of Medicine, Seoul, Korea

Received: January 23, 1991;  Accepted: March 23, 1991.

Abstract

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 case by the histopathology of subcutaneous neurofibroma. A brief review of the related literature is also presented.

Keywords :Atypical Neurofibromatosis Type I;Progressive Psychomotor Retardation