J Korean Neurol Assoc.
2006 Oct;24(5):498-502.
Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures
- Affiliations
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- 1Department of Neurology, Kosin University College of Medicine. Busan, Korea. nekim@ns.kosinmed.or.kr
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.
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