Management of Leigh syndrome due to NDUFAF6 variants
نویسندگان
چکیده
منابع مشابه
Compartment Syndrome of the Calf Due to Nicolau Syndrome
We report a case of Nicolau syndrome in a 15 months old girl following of an intramuscular injection of penicillin 6.3.3 in her left buttock. This case is unique because she developed compartment syndrome in her left calf far from her injection site. Her toe’s tips gangrened in the course of her ailment. We hypothesized that the compartment syndrome might be produced by a probable intra-arteri...
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BACKGROUND AND OBJECTIVES Leigh syndrome (LS) is a rare disease caused by abnormalities of mitochondrial energy generation. The central nervous system is most frequently affected, with psychomotor underdevelopment, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Surgical and anesthetic procedures stimulate the tracheal irritability, and could exac...
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BACKGROUND Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene...
متن کاملWhy does Leigh syndrome respond to immunotherapy?
With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...
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Dear Editor: With interest we read the article by Ashrafi et al. about a 14-year-old female who is regarded to have developed Leigh syndrome (LS) after traumatic brain injury (TBI) (1). We have the following comments and concerns: We do not agree with the notion that traumatic brain injury was the precipitating factor for LS. The patient had a history of hypoacusis, which is a typical clinical ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2019
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2019.100456