Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures.
- Author:
Kwang Soo KIM
1
;
Ji Soo MOON
;
Ji Hyun LEE
;
Sang Wook HA
;
Seong Jin KANG
;
Min Jeong KIM
;
Jong Kuk KIM
;
Bong Goo YOO
Author Information
1. Department of Neurology, Kosin University College of Medicine. Busan, Korea. nekim@ns.kosinmed.or.kr
- Publication Type:Case Report
- Keywords:
Leber's hereditary optic neuropathy;
mtDNA 11778 mutation;
Seizures
- MeSH:
Brain;
DNA, Mitochondrial*;
Electroencephalography;
Epilepsy;
Humans;
Hydrocephalus;
Magnetic Resonance Imaging;
Optic Atrophy, Hereditary, Leber*;
Point Mutation;
Seizures*
- From:Journal of the Korean Neurological Association
2006;24(5):498-502
- CountryRepublic of Korea
- Language:Korean
-
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.
