title: Thermal dysregulation in Prader-Willi syndrome: a potentially fatal complication in adolescence, not just in infancy.
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.
authors.affiliation: Royal Belfast Hospital for Sick Children, Belfast, UK.
authors.forename: Steven
authors.initials: S
authors.lastname: McVea
authors.affiliation: Royal Belfast Hospital for Sick Children, Belfast, UK.
authors.forename: Andrew James
authors.initials: AJ
authors.lastname: Thompson
authors.affiliation: Royal Belfast Hospital for Sick Children, Belfast, UK.
authors.forename: Noina
authors.initials: N
authors.lastname: Abid
authors.affiliation: Paediatric Intensive Care Unit, The Royal Belfast Hospital For Sick Children, Belfast, UK.
authors.forename: Julie
authors.initials: J
authors.lastname: Richardson
mesh_terms: D000293:Adolescent; D003422:Critical Care; D003937:Diagnosis, Differential; D005334:Fever / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007036:Hypothermia, Induced / Q000379:methods; D008297:Male; D011175:Positive-Pressure Respiration; D011218:Prader-Willi Syndrome / Q000150:complications*; D012131:Respiratory Insufficiency / Q000209:etiology*