X-Linked Leigh's syndrome

Summary

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/l, 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.

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Correspondence to Paul J. Benke.

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Benke, P.J., Parker, J.C., Lubs, ML. et al. X-Linked Leigh's syndrome. Hum Genet 62, 52–59 (1982). https://doi.org/10.1007/BF00295603

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Characteristic Feature
  • Neurologic Symptom
  • Metabolic Acidosis