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

Ai Ito; Hideshi Fujinaga; Sachiko Matsui; Kumiko Tago; Yuka Iwasaki; Shuhei Fujino; Junko Nagasawa; Shoichiro Amari; Masao Kaneshige; Yuka Wada; Shigehiro Takahashi; Keiko Tsukamoto; Osamu Miyazaki; Takako Yoshioka; Akira Ishiguro; Yushi Ito

doi:10.1055/s-0037-1615791

American Journal of Perinatology Reports, Inhaltsverzeichnis

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

Authors

Ai Ito

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
Hideshi Fujinaga

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan

³Division of Neonatology, Department of Pediatrics, Nishisaitama-chuo National Hospital, Tokyo, Japan
Sachiko Matsui

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Kumiko Tago

⁴Department of Pathology, National Center for Child Health and Development, Tokyo, Japan
Yuka Iwasaki

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Shuhei Fujino

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Junko Nagasawa

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Shoichiro Amari

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Masao Kaneshige

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Yuka Wada

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Shigehiro Takahashi

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Keiko Tsukamoto

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan
Osamu Miyazaki

⁵Department of Radiology, National Center for Child Health and Development, Tokyo, Japan
Takako Yoshioka

⁴Department of Pathology, National Center for Child Health and Development, Tokyo, Japan
Akira Ishiguro

²Department of Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan
Yushi Ito

¹Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan

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.

Keywords

pulmonary hypoplasia - congenital diaphragmatic hernia - myelomeningocele - thoracic dysplasia - persistent pulmonary hypertension - Chiari malformation - skeletal deformity

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Referenzen

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