RECURRENT EPISODES of cerebellar ataxia and motor incoordination precipitated by infection have been reported in a 6-year-old boy with optic atrophy, in association with hyperalaninemia, hyperpyruvicemia, and an apparent defect in the catabolism of pyruvic acid.1 A similar metabolic defect has been demonstrated in leukocytes and cultured skin fibroblasts of a similar patient,2 whose ophthalmic findings are to be described. Both pyruvate and its transamination product, alanine, accumulated in this individual's plasma. The patient's father exhibited an intermediate chemical abnormality. Other cases, possibly representing a spectrum of related biochemical defects, have been alluded to in the literature.3-6
Report of a Case
Since the age of 16 months, this 8-year-old boy has had a cerebellar and choreoathetoid movement disorder associated with stress or febrile illnesses. The acute episodes lasted from hours to weeks and, at times, were manifested by ataxic gait, "erratic" eye and body movements, abnormal
Podos SM. Hyperpyruvicemia With Hyper-alpha-alaninemia: Report of a Case With Neuro-ophthalmologic Abnormalities. Arch Ophthalmol. 1970;83(4):504–505. doi:10.1001/archopht.1970.00990030504019
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