Prader - Willi syndrome : case report and literature review

Abstract

Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, delayed development, short stature, childhood obesity, hypogonadism, characteristic facial features, and other features. This is a report of 12-years old girl with Prader-Willi syndrome. After birth, she had severe hypotonia, her physiological reflexes were very indolent, also she could not suck or swallow herself. All laboratory tests for newborns were performed which showed normal results, including karyotype test (46XX). After the consultation, fluorescent in situ hybridization (FISH) cytogenetic test was carried out to verify the hypothesis of Prader-Willi syndrome. The results showed 15q11 region deletion. This case shows the importance of genetic testing when patients are suffering from severe hypotonia.