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Association of small intestinal atresia and Hirschsprung disease in a multi-institutional colorectal registry
Megan A Read1, Rachel C Crady2, Syed F Hussaini1
1Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH, USA.
Insights
The association of jejuno-ileal atresia (JIA) and Hirschsprung disease (HSCR) is often missed, leading to delayed HSCR diagnosis. Early recognition is crucial for managing this complex pediatric condition.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Concomitant jejuno-ileal atresia (JIA) and Hirschsprung disease (HSCR) is an under-recognized condition.
- This association presents unique diagnostic and management challenges in neonates.
Purpose of the Study:
- To describe the incidence, clinical characteristics, management, and outcomes of patients with both JIA and HSCR.
- To highlight the importance of recognizing this dual diagnosis.
Main Methods:
- Retrospective review of patients within the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry.
- Data collection on atresia management and patient outcomes from participating institutions.
Main Results:
- 1.0% of HSCR patients (15/1,459) had concomitant JIA.
- Patients with JIA and HSCR experienced delayed HSCR diagnosis (median 58.5 days vs. 7 days for HSCR alone).
- High rates of complications (46.7%), ongoing nutritional support (53.3%), short bowel syndrome (55.6%), readmissions (80.0%), and reoperations (100%) were observed.
Conclusions:
- The co-occurrence of JIA and HSCR is associated with delayed HSCR diagnosis and a higher incidence of total colonic HSCR.
- A high index of suspicion is essential for timely diagnosis and effective management of this patient population.
- Further research is needed to optimize surgical and long-term care strategies.
Purpose:
Unlike colonic atresia, concomitant jejuno-ileal atresia (JIA) and Hirschsprung disease (HSCR) is an under-recognized association. We used a multi-institutional patient registry to describe the incidence, clinical characteristics, management, and outcomes of patients with both conditions.
Methods:
We performed a retrospective review of patients with HSCR in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. Additional data was collected from participating sites regarding atresia management and outcomes.
Results:
Of 1459 eligible patients with HSCR, 15 (1.0%) also had JIA. Median age at initial surgical consult and atresia diagnosis was 1 day (IQR 0.5-3.0 and 0.0-3.0, respectively). Median age at HSCR diagnosis was 58.5 days (IQR 16-147.5) compared to a median of 7 days (IQR 3.0-60.0) for patients with HSCR alone. Most patients had ileal atresia (N = 10, 66.7%), and total colonic HSCR (N = 9, 60.0%), although HSCR segment length was not consistently related to atresia location. After primary atresia surgery, 46.7% (N = 7) of patients had a complication within 30 days. At one year, 53.3% (N = 8) of patients required ongoing nutritional support, 55.6% (N = 5) had short bowel syndrome, 80.0% (N = 12) had at least one readmission, and 100% a reoperation. Twelve patients (80.0%) have undergone pull-through.
Conclusion:
Patients with both small intestinal atresia and HSCR demonstrated a higher likelihood of delayed HSCR diagnosis and an increased incidence of total colonic HSCR. A high index of suspicion is critical for timely diagnosis and management of this under-recognized population.
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