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Gastrointestinal emergencies in Cornelia de Lange Syndrome: Clinical characteristics and outcomes from a Single-Center Study 

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Cornelia de Lange syndrome (CdLS) constitutes a well-established congenital malformation disorder, delineated by distinctive craniofacial characteristics, both prenatal and postnatal growth deficiencies, cognitive impairments, and significant upper limb deformities. Gastrointestinal (GI) complications observed in patients with CdLS encompass hiatus hernia, pyloric stenosis, duodenal obstruction secondary to annular pancreas, and malrotation. Furthermore, various GI manifestations necessitating immediate evaluation for surgical intervention have also been documented. Nonetheless, a delayed diagnosis is frequently encountered in CdLS patients attributable to profound motor and intellectual disabilities, compromised communication abilities, and atypical presentation of symptoms, resulting in suboptimal clinical outcomes. This study aims to analyze the clinical features, surgical indications, and outcomes related to GI complications that require urgent surgical intervention in patients with Cornelia de Lange syndrome within a singular clinical environment.

Methods:
The clinical documentation of 61 patients diagnosed with CdLS at our institution was retrospectively analyzed from January 2018 to December 2023. In this cohort, participants who required emergency abdominal surgical procedures were assessed for their clinical profiles, surgical indications, and subsequent results.

Results:
Out of the 61 CdLS patients, 9 (14.8%) necessitated immediate surgical intervention. Among this cohort, there were 5 males and 4 females. The mean age at the time of surgical intervention was 7.5 years (with a range from 1 month to 20 years). Surgical indications comprised intussusception with strangulation (n=2), hiatal hernia accompanied by extensive ulcer bleeding (n=2), intestinal obstruction and strangulation due to cecal volvulus (n=2), colonic volvulus (n=1), and perforated appendicitis with peritonitis (n=2). The predominant presenting symptoms included irritability and poor oral intake in all patients, recurrent vomiting in 5 patients, hematochezia in 2 patients, and severe abdominal distension in 2 patients. The median interval from the onset of symptoms to surgical intervention was 3.2 days. Among the patients, one individual with strangulation resulting from cecal volvulus developed exacerbated sepsis postoperatively and ultimately succumbed to this condition.

Conclusion:
This study highlights the need for proactive diagnostic strategies in CdLS patients, especially children, who often present with nonspecific symptoms such as irritability, reduced oral intake, and vomiting. Prompt abdominal imaging and thorough medical assessment are essential for early diagnosis and timely surgical intervention, reducing complications and improving outcomes in this vulnerable population.

 

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