Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship |
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| Authors: | M. Steinlin E. Boltshauser B. Steinmann W. Wichmann G. Niemeyer |
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| Affiliation: | (1) University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland;(2) Department of Radiology, Section of Neuroradiology, University Hospital, CH-8091 Zürich, Switzerland;(3) Department of Ophthalmology, University Hospital, Rämistrasse 100, CH-8091 Zürich, Switzerland |
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| 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 benign condition, as usually assumed, but may lead to marked neurological abnormalities, particularly in affected males.Presented in abstract form at the Meeting of the Swiss Paediatric Society, Zug., 16–18 June, 1988 |
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| Keywords: | Proline Cerebral palsy Retinitis pigmentosa Leukodystrophy |
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