Prader-Willi syndrome – case report

Abstract

Objectives. This study presents a therapeutic problem of 19-year-old boy suffering from Prader-Willi syndro-me. Treatment of children with Prader-Willi syndrome is a serious therapeutic challenge for physicians of many specialties. From the literature it is known that pharmacological treatment is often ineffective and difficult to conduct because many patients with Prader-Willi syndrome can manifest their own idiosyncratic reactions to psychotropic drugs. Case report. A boy, aged 19, diagnosed with Prader-Willi syndrome is described. This syndrome is a complex disease, determined genetically due to the disordered structure of chromosome 15. The most characteristic symptom of the disorder is hyperfagia – great hunger, over which the patient has no control. In the absence of strict control of diet leads to increasing obesity, which is the primary medical problem in this disease. A common problem is hypotonia – reduced muscle tension. Simultaneously, growth hormone deficiency causes short stature and inhibits muscle growth. Often there are also behavioral and cognitive problems. Literature usually describes treatment of short stature and obesity, and disregards behavioral problems, extremely important for the family and the environment, which further deepens the isolation of these people from their environment. Conclusions. Due to hyperphagia, hypotonia, short stature, hypogonadism, hypothalamus and behavioral disorders, a holistic approach to therapy of these disease is recommended. Prader-Willi syndrome can thus be described as a syndrome of multiple developmental problems, neurological and behavioral manifestations of behavior which reflect diffuse central nervous system dysfunction.