[Prader-Willi syndrome: a 5 cases report]

ABSTRACT

The Prader-Willi syndrome is a rare genetic syndrome. Its diagnosis is currently well codified, based on clinic and paraclinic criteria. Its management has to be precocious and multidisciplinary. The authors relate 5 cases, and they insist on the difficulty of the diagnosis and of the management of this syndrome. Method: 5 cases of Prader-Willi syndrome were diagnosed in the Unit of Endocrinology and Metabolic Diseases of Rabat Children Hospital. These cases were collected according to criteria's of diagnosis of the American Society of Human Genetics and the French association "AFPW". The mean age of diagnosis was 6 year-old. The circumstances of diagnosis were a behavior trouble in 1 case, a short stature in 1 case, a neonatal hypotonia 1 case and a suspicion of Cushing syndrome in 2 cases. In 4 patients the diagnosis was made according to the criteria of the AFPW, and by molecular biology in 1 case. 4 children had a facial dysmorphism and a psycho-motor retardation. The treatment was based on dietary management, and the treatment of other hormonal deficiencies. Conclusions: only an early diagnosis and a multidisciplinary management can improve the prognosis of this syndrome