Laugel Vincent, This-Bernd Valérie, Cormier-Daire Valérie, Speeg-Schatz Claude, de Saint-Martin Anne, Fischbach Michel
Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France.
Pediatr Neurol. 2007 Jan;36(1):54-7. doi: 10.1016/j.pediatrneurol.2006.08.007.
Mitochondrial disorders can be linked to mutations in both mitochondrial and nuclear deoxyribonucleic acid, corresponding to various clinical phenotypes. Mutations in nuclear genes, including NDUFV1, have been associated with severe encephalomyopathies in infants, but genotype-phenotype correlations have remained elusive. This report details the complete clinical, biochemical, and molecular data of a 7-year-old male who presented at the age of 7 months with progressive ophthalmoplegia and later developed cerebellar ataxia, spasticity, and dystonia. Complex I deficiency was demonstrated in muscle, and two pathogenic missense mutations were present in the NDUFV1 gene. Ketogenic diet has seemingly improved the oculomotor palsy but has been unable to correct other neurologic symptoms. Considering other cases from the literature, this report broadens our understanding of genotype-phenotype correlations for NDUFV1 mutations and illustrates a potential and partial efficacy of ketogenic diet in complex I deficient patients.
线粒体疾病可能与线粒体和细胞核脱氧核糖核酸中的突变有关，对应于各种临床表型。包括 NDUFV1 在内的核基因中的突变与婴儿严重的脑肌病有关，但基因型与表型的相关性仍不明确。本报告详细介绍了一名 7 岁男性的完整临床、生化和分子数据，该男性在 7 个月大时出现进行性眼肌麻痹，后来发展为小脑共济失调、痉挛和肌张力障碍。肌肉中证实存在复合体 I 缺乏，并且在 NDUFV1 基因中存在两个致病性错义突变。生酮饮食似乎改善了动眼神经麻痹，但无法纠正其他神经症状。结合文献中的其他病例，本报告拓宽了我们对 NDUFV1 突变基因型与表型相关性的理解，并说明了生酮饮食在复合体 I 缺乏患者中的潜在和部分疗效。
