Sunday, February 21, 2010

Clinical presentations of mitochondrial cytopathies MELAS , MERRF and LHON

Melas- hypoacusis, ataxia, dementia, opthalmoplegia, encephalopathy, stroke like syndromes, exercise intolerance, proximal myopathy, type 2 diabetes.  Due to point mutation, can occur at most ages and mimic multiplle sclerosis with progressive or remitting and relapsing presentations

MERRF  isolated myoclonic epilepsy with or without ataxia, myopathy, peripheral neuropathy, and multiple lipomas in head region.  Neuropsychiatric manifestations including OCD, depression, psychosis and type two diabetes are common.  Any age of presentation to mid 40s.  Progressive decline

LHON-  painless, rapidly progressive vision loss with centrocecal scotoma in teenagers or young adults with male predominance (65-35).  Can mimic MS.

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