Unusual findings in Leigh syndrome caused by T8993C mutation

YİŞ U., Seneca S., Dirik E., Kurul S. H., ÖZER E., Cakmakci H., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.13, sa.6, ss.550-552, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 6
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.ejpn.2008.10.009
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.550-552
  • Anahtar Kelimeler: Leigh syndrome, Mitochondrial m.8993T > C mutation, Oligoclonal bands, MITOCHONDRIAL-DNA, HETEROGENEITY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.