[Dentato-rubro-pallido-luysium atrophy in an infant]

Klin Padiatr. 1990 Sep-Oct;202(5):361-4. doi: 10.1055/s-2007-1025546.
[Article in German]

Abstract

After an uneventful pregnancy and labour one hour post partum a tonic-clonic seizure occurred in a female infant. In the following time a muscular hypertonicity developed and the statomotor development ceased. No clue for a neurometabolic disease was found and the child died of an aspiration pneumonia at 5 months of age. Neuropathological examination disclosed a Dentato-Rubro-Pallido-Luysium-Atrophy (DRPLA). Apart from two healthy siblings an older sister had died six months old after an almost identical clinical course. No autopsy was done in this first case. DRPLA is a rare systemic degeneration and begins to our knowledge always in adolescence or adult age. The nosological classification of this unusual case is discussed and the literature is reviewed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Atrophy
  • Brain / pathology*
  • Brain Diseases / complications
  • Brain Diseases / pathology*
  • Female
  • Globus Pallidus / pathology
  • Growth Disorders / complications
  • Humans
  • Hypothalamus / pathology
  • Infant
  • Muscle Hypertonia / complications
  • Red Nucleus / pathology
  • Syndrome