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• W2133787369 abstract "We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients withl-2-hydroxyglutaric aciduria. All the children have the same ethnic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion ofl-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion ofl-2hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor inl-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma." @default.
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• W2133787369 date "1997-06-01" @default.
• W2133787369 modified "2023-10-11" @default.
• W2133787369 title "l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients" @default.
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• W2133787369 doi "https://doi.org/10.1016/s0387-7604(97)00574-3" @default.
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