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Leber plus disease
Atipo-Tsiba, P. W.
  • Atipo-Tsiba, P. W; s.af
Rwanda med. j. (Online) ; 71(3): 26-27, 2013. ilus
Artigo em Inglês | AIM | ID: biblio-1269610
Biblioteca responsável: CG1.1
ABSTRACT

Introduction:

Leber's neuropathy is a rare disease. The ''Leber Plus' is exceptional; is associated with a severe neurological disorder. This presentation was intended to describe a case of Leber Plus.

Methods:

A 45-year-old man consulted our department for bilateral blindness since 15 years

Results:

On both sides there was no light perception; optic atrophy with serious peripapillary vessels sclerosis. There was a flccid paraplegia. The 11 778 mitochondrial DNA mutation was identifid.

Conclusion:

The prevalence of the Leber's neuropathy is probably underestimated in black Africa because of lack of molecular biology laboratory
Assuntos
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Índice: AIM (África) Assunto principal: Paraplegia / Relatos de Casos / Cegueira / Atrofia Óptica Hereditária de Leber Tipo de estudo: Estudo prognóstico / Fatores de risco Idioma: Inglês Revista: Rwanda med. j. (Online) Ano de publicação: 2013 Tipo de documento: Artigo

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Índice: AIM (África) Assunto principal: Paraplegia / Relatos de Casos / Cegueira / Atrofia Óptica Hereditária de Leber Tipo de estudo: Estudo prognóstico / Fatores de risco Idioma: Inglês Revista: Rwanda med. j. (Online) Ano de publicação: 2013 Tipo de documento: Artigo