PO-0366 Prader-willi Syndrome: 3 Cases Studies

Abstract

Backgroud and aims Prader–Willi syndrome is a highly variable genetic disorder affecting multiple body systems. Aims Study the clinical diagnostic criteria and genetic testing confirmation of Prader–Willi syndrome. Methods We report 3 cases of Prader-Willi syndrome over a period of 7 years between 2007 and 2013. Results It9s about 3 boys. The age of diagnosis was 15 days (first patient), 8 months (second patient) and 6 years (third patient). History of hypotonia with poor suck was found in 2 cases and recurrent respiratory tract infection in 1 case. Diagnostic was suspected on hypotonia with poor suck in the neonatal period in the first case, hypotonia with history of feeding difficulty and psychomotor developmental delay in the second case and hyperphagia with obesity in the third case. Physical exam showed facial dysmorphy in 1 case, bilateral cryptorchidism in the 3 cases and obesity (BMI = 34.3) in the third case. Chromosome analysis with fluorescence in situ hybridization (FISH) confirmed the diagnosis with identification of the deletion 15q11.2 – q13 in the three cases. The average retreat was 2 years; the evolution was marked by morbid obesity (BMI=57) with hypertension and psychiatric disturbance with hyperactivity in the third case and significant weight gain at the age of 10 months in the second case. Conclusion Prader Willi must be suspected in all newborns with unexplained persistent hypotonia and confirmed by chromosome analysis. Early diagnosis is important to effective long-term management.