Eventration of the diaphragm in a newborn with Prader Willi Syndrome

Shareena Ishak, Rohana Jaafar, C. Y. Wong, Hasniah Abdul Latif, C. R. Thambidorai

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)237-239
Number of pages3
JournalJournal of Neonatal-Perinatal Medicine
Volume3
Issue number3
DOIs
Publication statusPublished - 2010

Fingerprint

Diaphragmatic Eventration
Prader-Willi Syndrome
snRNP Core Proteins
Newborn Infant
Chromosomes, Human, Pair 15
Cryptorchidism
Fluorescence In Situ Hybridization
Intubation
Paralysis
Cesarean Section
Foot
Ultrasonography
Emergencies
Thorax
Hand
Parturition
Muscles
Lung

Keywords

  • Eventration of diaphragm
  • newborn
  • Prader Willi Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Eventration of the diaphragm in a newborn with Prader Willi Syndrome. / Ishak, Shareena; Jaafar, Rohana; Wong, C. Y.; Abdul Latif, Hasniah; Thambidorai, C. R.

In: Journal of Neonatal-Perinatal Medicine, Vol. 3, No. 3, 2010, p. 237-239.

Research output: Contribution to journalArticle

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