Term baby with central hypotonia: Neonatal presentation of a rare disease - A case report

We report a term baby born with global central hypotonia with significant feeding difficulty noted since birth. Even though the antenatal course is uneventful, this neonate is born small for gestational age and has low birth weight, abnormal facial features, bilateral undescended testis, and significant hypotonia. He has a poor repertoire of movements and a typical frog-like posture. The muscle power and deep tendon reflexes are normal. All these features point toward a central cause of hypotonia. The neonate also has significant feeding of difficulty and the requirement of low-flow oxygen therapy. The presentation mimics perinatal asphyxia with sequelae hypoxic ischemic injury; however, neurosonogram, magnetic resonance imaging brain, and amplitude-integrated electroencephalogram all are normal. A clinical diagnosis of Prader–Willi syndrome (PWS) is suspected and a specific genetic test that is methylation study is sent and confirms the diagnosis of PWS. The neonate is started on early intervention, and swallowing exercises and is discharged successfully on breastfeeding.