Eventration of the diaphragm in a newborn with Prader Willi Syndrome

Abstract

A term infant born via emergency Caesarean section was floppy and required respiratory assistance from birth. He had almond shaped eyes, small hands and feet and bilateral cryptorchidism. Diagnosis of Prader Willi Syndrome was confirmed when the fluorescent in-situ hybridization (FISH) analysis showed deletion of loci D15S11, SNRPN, D15S10 and GABRB3 at the Prader Willi region of chromosome 15. The chest radiographs showed elevated right hemidiaphragm with significantly reduced right lung volume and ultrasonography revealed complete paralysis of the right hemidiaphragm. Surgery at the age of 4 months revealed generalized thinned out right hemidiaphragm with low muscle tone consistent with diagnosis of eventration. He required prolonged ventilatory support and recurrent intubations despite plication of the right hemidiaphragm and finally succumbed at the age of 8~months.