Respir Med Case Rep
. 2025 Mar 14:54:102193.
doi: 10.1016/j.rmcr.2025.102193. eCollection 2025. https://pubmed.ncbi.nlm.nih.gov/40177118/
Congenital cervical lung herniation in an infant with arterial tortuosity syndrome
Amal Al-Naimi 1, Sara G Hamad 2, Abdalla E Zarroug 3
Affiliations Expand
- PMID: 40177118
- PMCID: PMC11964769
- DOI: 10.1016/j.rmcr.2025.102193
Abstract
Arterial Tortuosity Syndrome (ATS) is a rare inherited connective tissue disorder that is characterized by elongated tortuous large and medium-sized arteries. ATS, as a multi-systemic disease, manifests with skin laxity, joint hypermobility and predisposition to hernia formation. Inguinal and diaphragmatic hernias were reported as the most common types of herniations in children with ATS. However, no previous reports have documented an association with congenital cervical lung herniation in those children. We present a case of congenital cervical lung herniation in an infant with ATS that was resolved clinically and radiologically at the age of 43 months with conservative management.
Keywords: Arterial tortuosity syndrome; Congenital lung hernia.
© 2025 The Authors.
