Cornelia de Lange Syndrome: A Recipe for Gastrointestinal Disaster? A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder (1 in 10,000–30,000 births) often linked to gastrointestinal (GI) complications such as perforation. The most common GI complication in CdLS is gastroesophageal reflux, caused by improper valve function between the stomach and esophagus, allowing stomach acid to flow back. Mutations are usually sporadic and not inherited. Forensic awareness is vital to avoid misinterpretation as abuse, account for intellectual disability and consent issues, and recognize risks of sudden death from undiagnosed malformations such as intestinal obstruction. At autopsy, features such as facial anomalies, limb defects, and GI pathology can indicate CdLS as a factor in unexplained deaths or related conditions. Given its genetic complexity and potential mosaicism, careful evaluation, even postmortem, is essential for accurate cause of death determination. We describe a case of a 25-year-old female with genetically confirmed lifelong intellectual disability who presented with sudden abdominal pain, vomiting, and melena, followed by unconsciousness. She was declared dead at a tertiary care hospital. Autopsy findings revealed ileal dilatation with perforation. CdLS is a rare genetic disorder with drastic involvement in the GI system. Thus, prompt inquiry of case details and investigations, coupled with a thorough post mortem examination is of paramount importance in such cases.
Authors: Pranav A, Pratima R Bhat, Deepak Nayak M
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4417270532