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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease).

We reviewed six cases of proven or probable subacute necrotizing encephalomyelopathy with an onset under 12 months of age. All children had been investigated at the Adelaide Children's Hospital in the period 1975-90. Seizures (five of six) and cortical blindness (five of six) were more prominent clinical features at presentation than the literature would suggest, while respiratory abnormalities and developmental delay were also frequent. Flash visual evoked responses, brain-stem auditory evoked responses, and the interictal electroencephalogram did not contributed to diagnosis. Computerized tomography brain scans were abnormal in three of four cases with typical basal ganglia lesions in one case and brain atrophy in two cases. The diagnosis was suspected in four cases with raised blood or cerebrospinal fluid lactate concentrations. The importance of obtaining a blood or cerebrospinal fluid lactate in all infants with unexplained seizures, cortical blindness or apnoea is emphasized.[1]


  1. Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease). Morris, S.A., Harbord, M.G. Journal of paediatrics and child health. (1993) [Pubmed]
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