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A case of infantile spasms associated with histidinemia is presented. Histidinemia was well-documented through biochemical assays. The patient was treated with the standard anticonvulsant regimen for infantile spasms, as well as an elimination diet for histidinemia. Despite low levels of histidine and adequate anticonvulsant therapy, the child continues to have seizures and is markedly retarded. The natural history of infantile spasms and its possible association with histidinemia is discussed.
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Duffner et al. (1975) studied this question.
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