Leigh syndrome with atypical cerebellar lesions
نویسندگان
چکیده
منابع مشابه
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.
Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R34...
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...
متن کاملAtypical Wernicke's encephalopathy with remarkable cerebellar lesions on diffusion-weighted MRI.
sphere and posterior vermis, simulating acute bilateral cerebellar infarctions ( fig. 1 A). An initial diagnosis was made based on a history of chronic alcohol abuse, with typical symptoms that included altered mental state and ophthalmoplegia, and combined lesions on bilateral thalamus and periaqueductal gray matter on DWI ( fig. 1 B). Immediate administration of 300 mg thiamine commenced. On ...
متن کاملChildren and adolescents with chronic cerebellar lesions
We studied language and visuo-spatial functions of twelve children and adolescents who had undergone surgery for cerebellar astrocytoma without subsequent radiation or chemotherapy and compared them with 27 age-, genderand education-matched healthy control subjects. In order to study possible lateralization of the functions of the left and right cerebellar hemispheres, subjects performed severa...
متن کاملVergence deficits in patients with cerebellar lesions.
The cerebellum is part of the cortico-ponto-cerebellar circuit for conjugate eye movements. Recent animal data suggest an additional role of the cerebellum for the control of binocular alignment and disconjugate, i.e. vergence eye movements. The latter is separated into two different components: fast vergence (to step targets) and slow vergence (to ramp and sinusoidal targets). The aim of this ...
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: eNeurologicalSci
سال: 2019
ISSN: 2405-6502
DOI: 10.1016/j.ensci.2019.100197