091 Cerebellar oedema in fulminant adult leigh syndrome
نویسندگان
چکیده
منابع مشابه
Leigh 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...
متن کاملLeigh syndrome: MRI findings in two children
Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndro...
متن کاملGlycerol therapy for cerebral oedema complicating fulminant hepatic failure.
A recent analysis of the main causes of death in a consecutive series of 132 patients (96 deaths) with fulminant hepatic failure (F.H.F.) seen over a seven-year period showed cerebral oedema in 35 (31 %) of the 92 cases in which the brain was examined at necropsy. In 20 of these there was associated brain herniation, and in some cases death appeared to be due to cerebral oedema at a time when l...
متن کاملResponse 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 کاملChildhood moyamoya disease accompanying Leigh syndrome.
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2019
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2019-anzan.79