title: Unusual findings in Leigh syndrome caused by T8993C mutation.
abstract: The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome depending on the amount of mutant mtDNA. The clinical findings of Leigh syndrome caused by the m.8993T>C mutation are less severe than those associated with the m.8993T>G mutation, and ragged red fibers, oligoclonal bands in cerebrospinal fluid, and additional deficiencies of respiratory enzyme complexes are usually not found. This report presents a two year old girl with Leigh syndrome caused by a m.8993T>C mutation. Interestingly she had ragged red fibers in muscle tissue, oligoclonal bands in CSF and focal deficient histochemical staining for complexes I and IV.
authors.affiliation: Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, 35340 Izmir, Turkey. ulyis@yahoo.com
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
authors.forename: Semra Hiz
authors.initials: SH
authors.lastname: Kurul
authors.forename: Erdener
authors.initials: E
authors.lastname: Ozer
authors.forename: Handan
authors.initials: H
authors.lastname: Cakmakçi
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D025261:Mitochondrial Proton-Translocating ATPases / Q000172:deficiency; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid
chemical_list: D004272:DNA, Mitochondrial; D043025:Oligoclonal Bands; C021983:complex V (mitochondrial oxidative phosphorylation system); D025261:Mitochondrial Proton-Translocating ATPases; D042967:Electron Transport Complex I