Ophthalmologic involvement in 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 کاملOphthalmologic, visceral, and cardiac involvement in neonates with candidemia.
A retrospective review of 86 neonates with candidemia hospitalized from January 1989 through June 1999 was conducted to determine the frequency of ophthalmologic, visceral, or cardiac involvement. Retinal abnormalities were observed in 4 (6%) of the 67 infants in whom indirect ophthalmoscopy examination was performed. Abdominal ultrasound abnormalities were detected in 5 (7.7%) of 65 infants. E...
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 کاملOphthalmologic Findings of Boucher-Neuhäuser Syndrome
To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced pro...
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: Acta Ophthalmologica
سال: 2016
ISSN: 1755-375X
DOI: 10.1111/aos.13124