ESPE Abstracts

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25.000 births.

Observation: A 15-year-old boy from a non-consanguineous marriage. Referred to our specialist consultation for management of severe obesity. Parents report the notion of hyperphagia with lack of satiety. The clinical examination revealed: almond-shaped eyes, thin upper lip and drooping corners of the mouth with abdominal obesity as well as impuberism. In addition, we note a metabolic syndrome retained according to the criteria of the IDF 2007. The rest of the biological and hormonal assessment was without abnormality. Abdominal ultrasound was normal. The genetic study was able to confirm the diagnosis.

Discussion: There is now a consensus among experts on the fact that the diagnostic suspicion of PWS is clinical (criteria of Holm et al. from 1993, reviewed in 2001) and its confirmation is genetic. It is due to an abnormality of chromosome 15 (15q11-q13). These genetic abnormalities are often accidental and sporadic and familial recurrence is very rare.

Conclusion: PWS requires comprehensive and multidisciplinary care. The use of growth hormone transformed the quality of life of these children. The metabolic syndrome in our patient is a real vascular risk factor and its management must involve healthy eating habits as well as physical activity.