THERMAL DYSREGULATION IN A SUGAR WITH PRADER-WILLI SYNDROME – CASE PRESENTATION

Abstract

Prader-Willi Syndrome (PWS) is a complex genetic syndrome characterized by a multitude of entities, including diminished fetal activity, obesity, severe muscular hypotonia, mental retardation, low stature, discrete cranio-facial dysmorphia, dental problems, hypogonadism and acromicria. In this paper, we presented the clinical features of a 5 months old female infant diagnosed with PWS and lack of hypothalamic functionality that led to thermoregulatory disorders. Disorder of thermoregulation may be part of the clinical spectrum in children with Prader-Willi syndrome and should be closely monitored, considering the severe complications with potentially fatal. In the case of the PWS thermoregulatory disorder, which manifests itself through fever spikes without a proven infectious substrate, the physical methods of combating fever have proven effective in achieving a normalization of body temperature.

Keywords

• disorder of thermoregulation
• infant