THERMAL DYSREGULATION IN AN INFANT WITH PRADER-WILLI SYNDROME – CASE PRESENTATION

Anca Lavinia Postolache, Ingrith Miron, Vasile Valeriu Lupu, Ștefana Moisă, Leonard Perțea, Teodora Jescu, Cristina Rusu, Ancuța Lupu

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.

Loader Loading...
EAD Logo Taking too long?

Reload Reload document
| Open Open in new tab

Download [443.59 KB]

Leave a Reply

Your email address will not be published. Required fields are marked *