피질 이형성증을 동반한 제1형 신경섬유종증 1례

• 영문명: A Case of Neurofibromatosis Type 1 with Cortical Dysplasia
• 발행기관: 대한소아신경학회
• 저자명: 이진숙(Jin Sook Lee) 김승효(Seung Hyo Kim) 김헌민(Hun Min Kim) 박수연(Su Yeon Park) 이지훈(Ji Hoon Lee) 채종희(Jong Hee Chae) 김기중(Ki Joong Kim) 황용승(Yong Seung Hwang) 김인원(In-One Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제13권 제2호, 276~281쪽, 전체 6쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2005.11.30

국문 초록

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

영문 초록

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.

키워드

Neurofibromatosis Type 1 Cortical dysplasia Epilepsy