P140 – 3036: Prader Willi syndrome – Different clinical pictures at different ages

Abstract

Objective Prader-Willi Syndrome (PWS) presents initially with severe hypotonia, feeding difficulties and failure to thrive, followed by excessive eating that leads to morbid obesity and behavior disorders developed in the subsequent years. Early diagnosis is of utmost importance in order to develop anticipatory management strategies and to limit the complications. Methods We illustrate the presentation modalities of Prader-Willi syndrome in different ages through three clinical cases. Results Patient 1, male, was referred to the Pediatric Neurology Department from the Neonatal Unit at the age of 3 days with a classical picture – severe hypotonia, feeding difficulties and failure to thrive in the first months of life. Patient 2, male, presented with a similar clinical picture but additionally with early onset epilepsy which is rarely described in association with PWS. Patient 3, also male, was referred to the Pediatric Neurology Department at the age of 12 with severe obesity, abnormal feeding behavior, and intellectual disability – traits highly suggestive of the classical PWS phenotype that was subsequently confirmed through genetical testing. Conclusion We emphasize the importance of early diagnosis and the formulation of an early intervention plan in order to prevent and limit the complications associated with PWS.