Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship

Abstract

We describe a 10-year-old boy with hyperprolinaemia type I and severe neurological abnormalities (mental retardation, cerebral palsy, epilepsy, nystagmus). Magnetic resonance imaging showed diffuse white matter involvement and electroretinography confirmed tapetoretinal degeneration. In view of reports in the literature, hyperprolinaemia type I may not be a… (More)
DOI: 10.1007/BF02024332

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@article{Steinlin1989HyperprolinaemiaTI, title={Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship}, author={Maja Steinlin and Eugen Boltshauser and Beat Steinmann and Werner W Wichmann and G{\"{u}nter Niemeyer}, journal={European Journal of Pediatrics}, year={1989}, volume={149}, pages={40-42} }