Prader-Willi Syndrome in Adulthood: A Case Report of Dermatologic and Ophthalmic Features Not Well Documented in the...

Prader-Willi syndrome (PWS) is a rare genetic disorder that presents in infancy with feeding difficulties and hypotonia, later progressing to compulsive eating and metabolic complications. This case describes a 32-year-old male with genetically undiagnosed PWS, presenting with progressive muscular weakness, severe obesity (BMI 39.3), cognitive impairment, and functional decline. Notably, he exhibited psoriasis and ophthalmic abnormalities (bilateral proptosis and a dense cataract), which are not commonly associated with PWS. These findings reflect potential secondary complications from prolonged metabolic dysfunction and inadequate medical management into adulthood. This case highlights the severe consequences of late diagnosis, including uncontrolled obesity, hypertension, prediabetes, and musculoskeletal impairment. The presence of psoriasis and ocular findings suggests a potential interplay between chronic inflammation, metabolic syndrome, and PWS-related endocrine dysfunction. This case highlights the potential importance of early recognition, multidisciplinary management, and long-term follow-up in individuals with PWS, which may help reduce the risk of progressive disability and associated comorbidities.