Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures

J Korean Neurol Assoc > Volume 24(5); 2006 > Article

Journal of the Korean Neurological Association 2006;24(5): 498-502.

다양한 간질발작을 나타낸 사립체 DNA 11778 돌연변이로 인한 Leber 유전성 시신경병증

김광수, 문지수 이지현 하상욱 강성진 김민정 김종국 유봉구

고신대학교 의과대학 신경과학교실

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures

Kwang Soo Kim

Department of Neurology, Kosin University College of Medicine. Busan, Korea

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by acute or subacute visual loss associated with other neurologic diseases. We report a man with LHON caused by a mitochondrial DNA point mutation at nucleotide position 11778, who presented various types of seizures, and hydrocephalus. EEG showed frequent brief generalized 2.5~3 Hz spike or polyspikes-and-wave activities. Brain MRI and cisternography showed communicating hydrocephalus. LHON plus associated with epilepsy and hydrocephalus in our patient widens the clinical presentation of LHON. KeyWords:Leber's hereditary optic neuropathy, mtDNA 11778 mutation, Seizures