Thermal dysregulation in Prader-Willi syndrome: a potentially fatal complication in adolescence, not just in infancy

BMJ Case Rep. 2016 Jun 29:2016:bcr2016215344. doi: 10.1136/bcr-2016-215344.

Abstract

A 13-year-old boy with a background of Prader-Willi syndrome (PWS) was admitted to the regional paediatric intensive care unit, with community-acquired pneumonia. Despite a week of intravenous antibiotics, resolution of inflammatory markers and resolving consolidation on radiograph, he remained feverish. Fever of unknown origin investigations were negative and he was diagnosed with central thermal dysregulation secondary to hypothalamic dysfunction in PWS. Following a hyperpyrexia period, secondary rhabdomyolysis and renal failure developed. This was successfully managed with active cooling, ventilation and haemofiltration. After weaning from haemofiltration, the patient was successfully extubated to non-invasive respiratory support.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Critical Care
  • Diagnosis, Differential
  • Fever / etiology*
  • Fever / therapy
  • Humans
  • Hypothermia, Induced / methods
  • Male
  • Positive-Pressure Respiration
  • Prader-Willi Syndrome / complications*
  • Respiratory Insufficiency / etiology*