CC-BY-NC-ND 4.0 · AJP Rep 2017; 07(04): e234-e237
DOI: 10.1055/s-0037-1615791
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia

Ai Ito1, 2, Hideshi Fujinaga1, 3, Sachiko Matsui1, Kumiko Tago4, Yuka Iwasaki1, Shuhei Fujino1, Junko Nagasawa1, Shoichiro Amari1, Masao Kaneshige1, Yuka Wada1, Shigehiro Takahashi1, Keiko Tsukamoto1, Osamu Miyazaki5, Takako Yoshioka4, Akira Ishiguro2, Yushi Ito1
  • 1Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
  • 2Department of Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan
  • 3Division of Neonatology, Department of Pediatrics, Nishisaitama-chuo National Hospital, Tokyo, Japan
  • 4Department of Pathology, National Center for Child Health and Development, Tokyo, Japan
  • 5Department of Radiology, National Center for Child Health and Development, Tokyo, Japan
Further Information

Publication History

24 November 2016

02 November 2017

Publication Date:
29 December 2017 (online)

Abstract

Background Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported.

Case Report A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney.

Conclusion We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.