ArticleItalian journal of pediatrics2010
A rare mitochondrial disorder: Leigh syndrome--a case report.
Article in Italian journal of pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 30 citations in OpenAlex.
- Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions.PloS one · 2023Article
- Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case withClinical case reports · 2021Article
- Ndufs4 ablation decreases synaptophysin expression in hippocampus.Scientific reports · 2021Article
- Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.Case reports in medicine · 2021Article
- Leigh Syndrome Mimicking Wernicke's Encephalopathy: A Case Report.Taehan Yongsang Uihakhoe chi · 2020Article
- Mitochondrial Dynamics Regulation in Skin Fibroblasts from Mitochondrial Disease Patients.Biomolecules · 2020Article
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- Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Human genetics · 2015Article
- Environmental exposure and mitochondrial epigenetics: study design and analytical challenges.Human genetics · 2014Review
- The genetics of Leigh syndrome and its implications for clinical practice and risk management.The application of clinical genetics · 2014Review
- Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.