Pitfalls in Diagnosis of Early-Onset Inflammatory Bowel Disease

Eur J Pediatr Surg. 2018 Feb;28(1):39-43. doi: 10.1055/s-0037-1604428. Epub 2017 Jul 25.

Abstract

Aim: The onset of inflammatory bowel disease (IBD) in patients younger than the age of 5 years is rare. Moreover, when there is exclusive colonic inflammation, diagnosis can be challenging. Our aim was to describe the difficulties and pitfalls in the diagnosis of early-onset IBD (eoIBD) and their repercussions in treatment decisions.

Patients and methods: Patients with eoIBD (Crohn's disease [CD], ulcerative, and unclassified colitis) treated at our center between 1990 and 2016 were studied retrospectively. Demographic, clinical, medical, and surgical treatment data were analyzed.

Results: A total of 19 patients were diagnosed with eoIBD at 21 (1-46) months of age. Bloody diarrhea, growth failure, and abdominal pain were present in 90, 42, and 16%, respectively. After 9 (1-62) months from the onset, patients were classified as ulcerative colitis (nine), CD (two), and unclassified colitis (eight). Unresponsiveness to medical treatment was observed in 10 and prompted surgical assessment. A partial colectomy was performed in one, and nine underwent a total colectomy (one end stoma and eight ileoanal anastomosis [IAA]). At least one surgical complication occurred in 80% and ultimately six patients with an IAA required an end stoma. Overtime, final diagnosis of 5 out of the 10 surgical patients changed due to biopsy findings, unresponsiveness to medical treatment, or extraintestinal and perianal manifestations. After a 12-year (1-22) follow-up, 57.9% of the diagnoses of all patients were modified.

Conclusion: EoIBD poses a challenge due to ambiguous presentation and absence of specific diagnostic tests. Surgical evaluation is often needed and surgeons must be mindful of possible initial misdiagnosis, in addition to short- and long-term outcomes before deciding aggressive surgical measures as well as intestinal reconstruction.

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Colitis, Ulcerative / diagnosis*
  • Colitis, Ulcerative / therapy
  • Crohn Disease / diagnosis*
  • Crohn Disease / therapy
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Retrospective Studies
  • Treatment Outcome

Supplementary concepts

  • Pediatric Crohn's disease
  • Pediatric ulcerative colitis