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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 27:584-585, March 2006
© 2006 American Society of Neuroradiology

Case Report
PEDIATRICS

Central Tegmental Tract Involvement in an Infant with 6-Pyruvoyltetrahydropterin Synthetase Deficiency

J. Takanashi^a,b, M. Kanazawa^a and Y. Kohno^a

^a Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan
^b Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan

Address correspondence to Jun-ichi Takanashi, MD, Department of Pediatrics, Kameda Medical Center, 929 Higashi-cho, Kamogawa-shi, Chiba 296-8602, Japan

Summary: 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.