A Case of Neurofibromatosis Type 1 with Cortical Dysplasia.
- Author:
Jin Sook LEE
1
;
Seung Hyo KIM
;
Hun Min KIM
;
Su Yeon PARK
;
Ji Hoon LEE
;
Jong Hee CHAE
;
Ki Joong KIM
;
Yong Seung HWANG
;
In One KIM
Author Information
1. Department of Pediatrics, Children's Hospital Seoul National University College of Medicine, Seoul, Korea. pednr@plaza.snu.ac.kr
- Publication Type:Case Report
- Keywords:
Neurofibromatosis Type 1;
Cortical dysplasia;
Epilepsy
- MeSH:
Child;
Epilepsy;
Genes, Neurofibromatosis 1;
Humans;
Infant;
Infant, Newborn;
Intellectual Disability;
Korea;
Malformations of Cortical Development*;
Neurocutaneous Syndromes;
Neurofibromatoses*;
Neurofibromatosis 1*;
Neurofibromin 1;
Neurologic Manifestations;
Prognosis;
Seizures;
Spasms, Infantile;
Wills
- From:
Journal of the Korean Child Neurology Society
2005;13(2):276-281
- CountryRepublic of Korea
- Language:Korean
-
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.
