Central tegmental tract involvement in an infant with 6-pyruvoyltetrahydropterin synthetase deficiency.
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.
Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.
J
J
Takanashi
M
M
Kanazawa
Y
Y
Kohno
D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency*
D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase