ISSN:
1432-1076
Keywords:
Proline
;
Cerebral palsy
;
Retinitis pigmentosa
;
Leukodystrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02024332