ISSN:
1432-1076
Schlagwort(e):
Proline
;
Cerebral palsy
;
Retinitis pigmentosa
;
Leukodystrophy
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF02024332