منابع مشابه
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy. A twenty year-old woman with baseline learning difficulties was admitted with progressive behavioral changes, diplopia, headaches, bladder incontinence, and incoordination. Brain ...
متن کاملLate onset Leigh syndrome mimicking central nervous system vasculitis
Leigh syndrome is typically a disorder of infancy and early childhood. Only a few patients with late onset Leigh syndrome have been reported [1]. The disorder is most likely underdiagnosed in adolescents and adults. In the past, many adults with Leigh syndrome were misdiagnosed with multiple sclerosis [2,3].Here, we describe a 17 year old girl with Leigh syndrome mimicking as central nervous sy...
متن کاملAdult-onset opsoclonus-myoclonus syndrome.
BACKGROUND Little is known about adult-onset opsoclonus-myoclonus syndrome (OMS) outside of individual case reports. OBJECTIVE To describe adult-onset OMS. DESIGN Review of medical records (January 1, 1990, through December 31, 2011), prospective telephone surveillance, and literature review (January 1, 1967, through December 31, 2011). SETTING Department of Neurology, Mayo Clinic, Rochester, M...
متن کاملAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
BACKGROUND Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It can result from inherited or sporadic mutations in either the mitochondrial or the nuclear genome, many of which affect intraorganellar gene expression. The estimated prevalence of 1/4300 indicates these to be amongst the commonest inherited neuromuscular disorders, em...
متن کاملLeigh Syndrome in Drosophila melanogaster
Leigh Syndrome (LS) is the most common early-onset, progressive mitochondrial encephalopathy usually leading to early death. The single most prevalent cause of LS is occurrence of mutations in the SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific decrease in the activity of mitochondrial respiratory chain complex IV (cytochrome c oxidase, COX). SURF1 encodes an inner membrane mi...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2007
ISSN: 0972-2327
DOI: 10.4103/0972-2327.31488