Prader-willi syndrome: importance of early diagnosis - case report

Abstract

Prader Willi Syndrome is a genetic disease caused by the lack of expression of genes on chromosome 15 (chromosomal region 15q11-q13). In 1956 it was described for the first time by Prader, Labhart and Willi. It is a complex neurodevelopmental disorder, regardless of ethnicity or sex. The main features of the syndrome in the neonate are hypotonia, hypogonadism, difficulty in sucking the breast and facial dysmorphisms. PWS has two different clinical nutritional phases. The first begins at birth, characterized by difficulties in latching on to the breast due to low suction. In the second phase, from the age of 2, the child has excessive hunger that leads to progressive obesity, if not controlled by the diet. The diagnosis of PWS is made by non-invasive genetic testing. DNA methylation analysis detects the condition more than 99% of the time and is therefore considered the first-line genetic test. This study aimed to analyze the importance of early diagnosis in the pediatric population, based on a case report that occurred in a maternity hospital in the Planalto Norte Catarinense. The study was qualitative in nature with a descriptive and retrospective orientation. Data collection was performed from the patient's chart. In the development of this analysis, the importance of early diagnosis for rapid intervention and improvement of prognosis and quality of life of these patients became evident. Early diagnosis and appropriate care are crucial for the baby's outcome, as it ensures comprehensive care to prevent obesity and stimulation of cognitive and adaptive skills.