Premium
Diffuse leukodystrophy in an infant with cytochrome‐c oxidase deficiency
Author(s) -
Harpey JP.,
Heron D.,
Prudent M.,
Charpentier C.,
Rustin P.,
Ponsot G.,
CormierDaire V.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005497116398
Subject(s) - leukodystrophy , cytochrome c oxidase , medicine , human genetics , pathology , biology , genetics , biochemistry , enzyme , disease , gene
A 25‐month‐old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2‐weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome‐c oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.