Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari <scp>II</scp> Malformation, and Renal Dysplasia

Congenital diaphragmatic hernia (CDH) associated with neural tube defects is exceedingly rare. We report a female neonate (2550 g) born at 35 weeks (Apgar 2/4/5) with severe left-sided Bochdalek CDH, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Maternal history revealed no folic acid supplementation. Despite intensive care and inhaled nitric oxide for persistent pulmonary hypertension, the patient died at 72 h. This case highlights the value of prenatal ultrasound in detecting multisystem anomalies and supports the concept of early embryologic mesodermal disruption, potentially exacerbated by nutritional deficiencies.

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Publication Details

Journal
Journal of Clinical Ultrasound
Published
2026-06-30
DOI
https://doi.org/10.1002/jcu.70326
Primary Topic
Congenital Diaphragmatic Hernia Studies
Type
article
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article

Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari II Malformation, and Renal Dysplasia

ME Kalkan, Fatih İşleyen
Journal of Clinical Ultrasound
Congenital Diaphragmatic Hernia Studies
article

Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari II Malformation, and Renal Dysplasia

ME Kalkan, Fatih İşleyen
article en

Abstract

Congenital diaphragmatic hernia (CDH) associated with neural tube defects is exceedingly rare. We report a female neonate (2550 g) born at 35 weeks (Apgar 2/4/5) with severe left-sided Bochdalek CDH, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Maternal history revealed no folic acid supplementation. Despite intensive care and inhaled nitric oxide for persistent pulmonary hypertension, the patient died at 72 h. This case highlights the value of prenatal ultrasound in detecting multisystem anomalies and supports the concept of early embryologic mesodermal disruption, potentially exacerbated by nutritional deficiencies.

Journal of Clinical Ultrasound
Şanlıurfa Mehmet Akif İnan Eğitim ve Araştırma Hastanesi (TR)
Zero hunger
Openalex Percentile: Top 6%
Congenital Diaphragmatic Hernia Studies
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