Affiliations: Department of Pediatrics, Universiti Kebangsaan
Malaysia Medical Centre, Kuala Lumpur, Malaysia | Department of Surgery, Universiti Kebangsaan Malaysia
Medical Centre, Kuala Lumpur, Malaysia
Note: [] Corresponding author: Ishak Shareena, MBBS, Department of
Pediatrics, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif,
56000 Kuala Lumpur, Malaysia. Tel.: +603 9145 5412; Fax: +603 9173 7827;
E-mail: [email protected]
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.
Keywords: Eventration of diaphragm, newborn, Prader Willi Syndrome
