In:
Journal of Child Neurology, SAGE Publications, Vol. 17, No. 3 ( 2002-03), p. 233-236
Kurzfassung:
We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive of Leigh disease. Histochemical analysis of skeletal muscle showed decreased cytochrome-c oxidase activity. Biochemical analysis of respiratory chain enzymes in muscle homogenate and in cultured fibroblasts showed isolated cytochrome-c oxidase deficiency. Western blot analysis in fibroblasts showed the absence of Surf1 protein. Genetic analysis of the SURF1 gene revealed that the patient was compound heterozygous for a previously reported mutation at the splice-junction site of intron 3 (240 + 1G 〉 T), and for a novel 4-bp deletion in exon 6 (531_534delAAAT). Our data further enlarge the spectrum of mutations in SURF1 gene in patients with Leigh disease and cytochrome-c oxidase deficiency, contributing to better characterization of the clinical and neuroradiologic features of this group of patients for genotype-phenotype correlations. (J Child Neurol 2002;17:233-236).
Materialart:
Online-Ressource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/088307380201700318
Sprache:
Englisch
Verlag:
SAGE Publications
Publikationsdatum:
2002
ZDB Id:
2068710-2
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