Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?

Eur J Pediatr. 1989 Oct;149(1):40-2. doi: 10.1007/BF02024332.


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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / complications*
  • Brain Diseases / diagnosis
  • Brain Diseases / etiology
  • Cerebral Palsy / complications*
  • Cerebral Palsy / diagnosis
  • Cerebral Palsy / etiology
  • Child
  • Humans
  • Leukodystrophy, Globoid Cell / complications*
  • Leukodystrophy, Globoid Cell / diagnosis
  • Leukodystrophy, Globoid Cell / etiology
  • Magnetic Resonance Imaging
  • Male
  • Proline / blood*
  • Retinitis Pigmentosa / complications*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / etiology
  • Tomography, X-Ray Computed


  • Proline