피질 이형성증을 동반한 제1형 신경섬유종증 1례

A Case of Neurofibromatosis Type 1 with Cortical Dysplasia

저자들은 발작을 주소로 내원한 3개월 여아에서 제1형 신경섬유종증에 동반된 피질 이형성증을 보인 매우 드문 증례를 경험하였기에 보고하는 바이다.

Neurofibromatosis type 1(NF1) is the most common neurocutaneous syndrome which has an autosomal dominant pattern of inheritance. The NF1 gene is located on chromosome 17q11.2 and encodes for neurofibromin known as tumor suppressor protein. The disorder affects almost every organ and shows neurologic manifestations such as tumors, mental retardation and epilepsy. Epilepsy associated with NF1 occurs in about 4% and is known to have relatively good prognosis. Malformations of cortical development are less common in patients with NF1 than in other phakomatoses. To our knowledge, no report on NF1 with cortical dysplasia has been published in Korea. We report a child with NF1 associated with extensive cortical dysplasia, who presented initially infantile spasms and in the following months developed tonic seizures.