Almost life threatening event in a Prader-Willi syndrome child, at night, after dose increase of growth hormone

Introduction: A Prader Willi syndrome (PWS) patient, after dose increase of growth hormone therapy, needed artificial reanimation at night.

Case report: Our patient (9 1/12 years) with proven PWS and massive obesity, was reported by the mother not to wake up in the morning, the emergency physician stated insufficient spontaneous breathing, intubated and instituted artificial respiration. 4 months earlier growth hormone was substituted, two weeks before the event, after a dose increase to 2mg/d, a severe day sleepiness and lack of briskness were reported. After the emergency physician’s interference, intubation and artificial respiration were needed throughout 10 days, noninvasive BIPAP-respiration for further 14 days, then switch to nightly CPAP-respiration. Polysomnographia showed massive obstructive sleep apnea syndrome (OSAS), and in normokapnia (achieved by CPAP-therapy) few relevant central apneas. After the emergency physician’s interference, clinically the child first presented as hypoxic encephalopathia, after outpatient rehabilitation showed only slight deficits, in comparison with the condition before the event. Now under home CPAP-therapy, the OSAS is well controlled, pulse oximeter monitoring showing few central apneas with desaturation.

Conclusion: PWS children frequently show relevant sleep associated respiration problems. They need polysomnographia diagnostics and specific therapy. That is even more relevant in case of growth hormone substitution, as here a nightly life threatening event has been described, in association to this therapy and a dose increase.

Keywords: Prader-Willi syndrome, sleep apnea, growth hormone