Results 11 to 20 of about 27,503 (244)
Ocular manifestations in Leigh syndrome [PDF]
Korean Journal of Pediatrics, 2010 Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods :
Kyo Ryung Kim +5 more
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Anesthetic considerations in Leigh disease: Case report and literature review
Saudi Journal of Anaesthesia, 2012 Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients
Abdullah Sulieman Terkawi +3 more
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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Endocrine Regulations, 2018 Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel +7 more
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Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations [PDF]
Frontiers in Neurology, 2019 Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee +3 more
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Leigh syndrome: A rare mitochondrial disorder
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted.
Gopen Kumar Kundu +3 more
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The Journal of Clinical InvestigationLeigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified ...
Eiki Kanemaru +11 more
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A rare mitochondrial disorder: Leigh sydrome - a case report [PDF]
Italian Journal of Pediatrics, 2010 Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable.
Shrikhande Dhananjay Y +4 more
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Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome
Case Reports in Psychiatry, 2023 Introduction. Leigh syndrome (LS) is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy with an estimated incidence of 1:40,000 births.
F. Jaballah +6 more
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Leigh Syndrome: A Tale of Two Genomes
Frontiers in Physiology, 2021 Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Ajibola B. Bakare +4 more
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Archives of Medical Science, 2005 Leigh disease (LD) or subacute necrotizing encephalomyelopathy (SNE) is a mitochondrial dysfunction. It can be caused by either mitochondrial or nuclear DNA mutations, which impair communication of the complexes of the human electron transporting chain ...
Bartłomiej Kisiel +2 more
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