J Korean Child Neurol Soc.  2005 Nov;13(2):276-281.

A Case of Neurofibromatosis Type 1 with Cortical Dysplasia

Affiliations
  • 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.

Keyword

Neurofibromatosis Type 1; Cortical dysplasia; Epilepsy

MeSH Terms

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
Neurofibromin 1
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