American Journal of Neuroradiology 2006-Mar
Central tegmental tract involvement in an infant with 6-pyruvoyltetrahydropterin synthetase deficiency.
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We report the case of an asymptomatic 2-month-old infant with 6-pyruvoyltetrahydropterin synthetase deficiency detected through a neonatal phenylketonuria screening program. MR imaging revealed symmetrical lesions in the central tegmental tract with reduced diffusion, which resolved after treatment. A possible explanation for these lesions is intramyelinic edema resulting from brain insults in utero.