Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report

TL;DR

A rare case of intestinal Langerhans cell histiocytosis in a 19-month-old girl was misdiagnosed as inflammatory bowel disease until a biopsy confirmed the correct diagnosis.

Contribution

This case report highlights the importance of biopsy in diagnosing Langerhans cell histiocytosis in infants with unresolved gastrointestinal symptoms.

Findings

The patient's symptoms initially resembled inflammatory bowel disease but were later confirmed as Langerhans cell histiocytosis via biopsy.

Treatment with chemotherapy and molecular-targeted drugs led to gradual improvement in the patient's condition.

The case emphasizes the need for biopsy in infants with persistent inflammatory gastrointestinal symptoms for accurate diagnosis.

Abstract

Langerhans cell histiocytosis is a rare disease characterized by the abnormal proliferation of Langerhans cells within a single organ or multiple organs. This case report aims to improve the knowledge of the presentation of gastrointestinal Langerhans cell histiocytosis to facilitate the diagnosis and management of this rare disorder.

A 19-month-old female presented with repeatedly mucinous bloody stools. The abdominal ultrasound revealed a slightly enlarged spleen. The initial colonoscopy revealed chronic enteritis with a very early onset inflammatory bowel disease. After anti-inflammatory treatment without improvement, an intestinal biopsy was performed at The Forth Affiliated Hospital of Zhejiang University. The final intestinal biopsy and histopathology examination confirmed the presence of Langerhans cell histiocytosis. After diagnosis, additional lung and head imaging examinations revealed no abnormalities. Her condition improved gradually after being treated with chemotherapy (vincristine and prednisone) and molecular-targeted drug(dalafinil) treatment.

The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.

Figures