-
-
J Korean Neurol Assoc. 2006;24(5):498-502.
- 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
- 다양한 간질발작을 나타낸 사립체 DNA 11778 돌연변이로 인한 Leber 유전성 시신경병증
-
김광수, 문지수 이지현 하상욱 강성진 김민정 김종국 유봉구
-
고신대학교 의과대학 신경과학교실
- 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
Keywords :
- 초록
-
