Síndrome de Prader-Willi: relato de um acompanhamento nutricional frente ao diagnóstico da doença

Abstract

INTRODUCTION: Prader-Willi syndrome (PWS) is a rare genetic disorder and the leading cause of genetic obesity, resulting in neurological, hormonal, and feeding-related changes beginning in the prenatal period. Nutrition is a key factor from infancy, as the syndrome progresses through distinct feeding phases, ranging from malnutrition with a possible need for alternative feeding routes to hyperphagia and severe obesity. OBJECTIVE: This case report aims to describe the nutritional management of an infant with PWS during prolonged hospitalization. CASE REPORT: The patient was admitted to the University Hospital of the Federal University of Juiz de Fora, Minas Gerais, Brazil, presenting with generalized hypotonia, ineffective sucking, and being classified as small for gestational age. Given these findings, an alternative feeding route was instituted, along with daily nutritional monitoring. Strategies to improve nutritional status were adopted based on clinical conditions, gastrointestinal tolerance, and individual acceptance. After 88 days of hospitalization, the patient had gained 3.320 kg and grown 10.7 cm by the time of discharge, achieving normal weight in all anthropometric indicators assessed. He was discharged on exclusive oral feeding, using an age-appropriate infant formula. DISCUSSION: Newborns with PWS have reduced anthropometric parameters, including birth weight, length, and body mass index, with values approximately 15% lower than average. Developmental delay reinforces the relevance of early diagnosis, continuous nutritional monitoring, and integrated multidisciplinary team action to optimize prognosis. CONCLUSION: This case report underscores the importance of early, individualized nutritional monitoring in infants with PWS, demonstrating its potential to prevent complications, optimize anthropometric outcomes, and promote adequate food intake.