A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia
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 re...
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2017-10-01
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| Series: | American Journal of Perinatology Reports |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1615791 |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia American Journal of Perinatology Reports pulmonary hypoplasia congenital diaphragmatic hernia myelomeningocele thoracic dysplasia persistent pulmonary hypertension chiari malformation skeletal deformity |
| author_facet |
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 |
| author_sort |
Ai Ito |
| title |
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia |
| title_short |
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia |
| title_full |
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia |
| title_fullStr |
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia |
| title_full_unstemmed |
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia |
| title_sort |
case of fatal pulmonary hypoplasia with congenital diaphragmatic hernia, thoracic myelomeningocele, and thoracic dysplasia |
| publisher |
Thieme Medical Publishers, Inc. |
| series |
American Journal of Perinatology Reports |
| issn |
2157-6998 2157-7005 |
| publishDate |
2017-10-01 |
| description |
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. |
| topic |
pulmonary hypoplasia congenital diaphragmatic hernia myelomeningocele thoracic dysplasia persistent pulmonary hypertension chiari malformation skeletal deformity |
| url |
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1615791 |
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1724630551952883712 |
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doaj-bdc00dda7b3d4d0c827f1b2878fa5a2b2020-11-25T03:17:42ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052017-10-010704e234e23710.1055/s-0037-1615791A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic DysplasiaAi Ito0Hideshi Fujinaga1Sachiko Matsui2Kumiko Tago3Yuka Iwasaki4Shuhei Fujino5Junko Nagasawa6Shoichiro Amari7Masao Kaneshige8Yuka Wada9Shigehiro Takahashi10Keiko Tsukamoto11Osamu Miyazaki12Takako Yoshioka13Akira Ishiguro14Yushi Ito15Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDepartment of Pathology, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanDepartment of Radiology, National Center for Child Health and Development, Tokyo, JapanDepartment of Pathology, National Center for Child Health and Development, Tokyo, JapanDepartment of Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, JapanDivision of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, JapanAbstract 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1615791pulmonary hypoplasiacongenital diaphragmatic herniamyelomeningocelethoracic dysplasiapersistent pulmonary hypertensionchiari malformationskeletal deformity |