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Journal of the Korean Child Neurology Society 2005;13(2):276-281.
Published online November 30, 2005.
A Case of Neurofibromatosis Type 1 with Cortical Dysplasia.
Jin Sook Lee, Seung Hyo Kim, Hun Min Kim, Su Yeon Park, Ji Hoon Lee, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, In One Kim
1Department of Pediatrics, Children's Hospital Seoul National University College of Medicine, Seoul, Korea. pednr@plaza.snu.ac.kr
2Department of Radiology, Children's Hospital Seoul National University College of Medicine, Seoul, Korea.
Abstract
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.
Key Words: Neurofibromatosis Type 1, Cortical dysplasia, Epilepsy


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