Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures
Journal of the Korean Neurological Association
;
: 498-502, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-14657
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Encéfalo
/
DNA Mitocondrial
/
Imageamento por Ressonância Magnética
/
Mutação Puntual
/
Atrofia Óptica Hereditária de Leber
/
Eletroencefalografia
/
Epilepsia
/
Hidrocefalia
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2006
Tipo de documento:
Artigo
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