Pediatric Ileocecal Burkitt Lymphoma Presenting as a Diagnostic Challenge After a Nondiagnostic Surgical Biopsy: A Case Report

TL;DR

A nine-year-old boy with persistent GI symptoms was eventually diagnosed with Burkitt lymphoma after an initial biopsy was inconclusive, highlighting the difficulty in diagnosing this aggressive cancer in children.

Contribution

This case report highlights the diagnostic challenges of Burkitt lymphoma in pediatric patients and the risk of false-negative initial biopsies.

Findings

Initial surgical biopsy of a cecal mass was nondiagnostic, leading to a delay in diagnosis.

Repeat endoscopic evaluation confirmed high-grade B-cell lymphoma consistent with Burkitt lymphoma.

Clinical presentation included chronic abdominal pain, diarrhea, weight loss, and laboratory findings indicating high tumor burden.

Abstract

Burkitt lymphoma (BL) is a highly aggressive form of non-Hodgkin lymphoma that frequently affects children and often presents with nonspecific GI symptoms, making early diagnosis challenging. GI involvement is common and may closely mimic more prevalent pediatric conditions such as appendicitis or inflammatory bowel disease (IBD), leading to diagnostic delays. We report the case of a nine-year-old boy who presented with a five-month history of chronic abdominal pain, diarrhea, and unintentional weight loss. He was initially managed for suspected appendicitis, and an appendectomy was performed. During surgery, an incidental cecal mass was identified and biopsied; however, histopathological examination revealed only minimal histiocytosis, with no evidence of malignancy. Despite surgical intervention, the patient’s symptoms persisted. One month later, due to ongoing clinical concerns and to rule out IBD, a repeat endoscopic evaluation was undertaken, which demonstrated a large, ulcerated cecal mass. Histopathological analysis of repeat biopsies confirmed a diagnosis of high-grade B-cell lymphoma consistent with BL. Laboratory investigations at presentation were notable for marked leukocytosis, elevated erythrocyte sedimentation rate, and significantly increased lactate dehydrogenase levels, reflecting a high tumor burden. The current case report shows the diagnostic challenges of GI BL in children, underscores the risk of false-negative initial biopsies, and emphasizes the importance of maintaining a high index of suspicion in patients with persistent GI symptoms despite prior intervention.

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