Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate.

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Abstract
The clinical course of 3 sibs with subacute necrotizing encephalomyelopathy is described. Biochemical studies undertaken in 2 of the patients demonstrated a hyperpyruvemia, though the defect responsible was not defined. The finding of a raised blood pyruvate level in a child with a suggestive history, or in a sib of a previously known case, may be presumptive evidence of the presence of the disease. A clinical trial of lipoate administration in the youngest sib gave encouraging results. The hyperpyruvemia was reduced and, for a considerable time, clinical improvement was shown, particularly by the cessation of vomiting attacks, eye-rolling movements and sighing respiration. Administration of lipoate to a patient in whom diagnosis was made at an early stage of the disease may be of interest. The pattern of the familial incidence in cases so far reported is compatible with a mode of inheritance through a single autosomal recessive gene.