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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