X-linked Leigh's syndrome.
Two male half siblings developed rapid progression of neurologic symptoms at 11/2 and 21/2 years of age. Neither boy had a metabolic acidosis. Characteristic features of subacute necrotizing encephalomyelopathy, the neuropathologic basis of Leigh's syndrome, were demonstrated at autopsy. X-linkage of the disorder was considered because the boys had different fathers. An X-linked form of Leigh's syndrome was supported by a review of the literature, which showed an unexplained male/female ratio in Leigh's syndrome of 1.83/1, and a significant excess of male-male siblings. An X-linked form of Leigh's syndrome would explain the excess of males, and may account for some of the clinical and biochemical heterogeneity.
D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004678:Encephalomalacia / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009336:Necrosis; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D013577:Syndrome; D014960:X Chromosome