Pediatr Dev Pathol

. 2021 Mar 24;10935266211004253. doi: 10.1177/10935266211004253. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/33760645/

Cervicothoracic Neurenteric Cyst With Contralateral Diaphragmatic Hernia: An Unusual Combination

Stephanie Worrell ¹, Alice Randall ², Brighid O’Donnell ²Affiliations expand

• PMID: 33760645
• DOI: 10.1177/10935266211004253

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Abstract

We describe a premature male infant who died from complications resulting from two malformations: a large left-sided diaphragmatic hernia and a right-sided cervicothoracic neurenteric cyst. The findings of the first limited prenatal ultrasound led to the incorrect diagnosis of right-sided diaphragmatic hernia. Vertebral anomalies, commonly associated with neurenteric cysts, and an intrathoracic stomach, were not identified until autopsy examination. A literature review describes only one partly similar case relating a neurenteric cyst to the jejunum associated with an ipsilateral diaphragmatic defect identified on prenatal ultrasound. The second report of this combination raises the question of a developmental relationship.

Keywords: congenital diaphragmatic hernia; lung hypoplasia; neurenteric cyst; spinal axis lesion.