Sudden death of a girl with Prader-Willi syndrome

Genet Couns. 2002;13(4):459-64.

Abstract

We report on the sudden death of a 3.5-year-old girl with Prader-Willi syndrome (PWS) and 15q11-q13 deletion. She suffered from severe chronic breathing disturbances and recurrent bronchitis. During an episode of acute bronchitis she had a cardiac arrest and died two months later of the sequelae. Brain CT imaging three weeks after the arrest showed bilateral symmetrical haemorrhages in the basal ganglia region. The spatial distribution of the haemorrhages can possibly suggest that the basal ganglia in PWS may be especially susceptible to hypoxemia.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15
  • Death, Sudden*
  • Female
  • Humans
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / physiopathology*
  • Tomography, X-Ray Computed