# Isolated gastrointestinal Langerhans cell histiocytosis in a 16‐month‐old child: A case report

**Authors:** Al‐Qasim AL‐Bahlani, Laraib Touseeq, Mohammed Al‐Masqari, Emad Saad

PMC · DOI: 10.1002/jpr3.70096 · JPGN Reports · 2025-10-14

## TL;DR

A 16-month-old child with unexplained gastrointestinal symptoms was diagnosed with a rare condition called Langerhans cell histiocytosis and responded well to chemotherapy.

## Contribution

This case report presents an extremely rare instance of isolated gastrointestinal Langerhans cell histiocytosis in a young child.

## Key findings

- A 16-month-old girl with chronic vomiting and bloody diarrhea was diagnosed with GI-LCH.
- The patient showed a favorable response to standard LCH chemotherapy.
- BRAF mutation analysis is suggested as a useful tool for guiding therapy in such cases.

## Abstract

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by clonal proliferation of Langerhans cells, most often involving the skin or bone. Isolated gastrointestinal (GI) involvement is extremely uncommon in young children. We report a 16‐month‐old girl with a 1‐month history of chronic vomiting, bloody diarrhea, and failure to thrive who was found to have GI‐LCH without systemic involvement. She was started on standard LCH chemotherapy with a favorable clinical response. This case highlights the importance of considering LCH in infants/toddlers with unexplained GI symptoms and the utility of targeted molecular testing (e.g., BRAF mutation analysis) in guiding therapy.

## Linked entities

- **Diseases:** Langerhans cell histiocytosis (MONDO:0017025)

## Full-text entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}
- **Diseases:** vomiting (MESH:D014839), diarrhea (MESH:D003967), failure to thrive (MESH:D005183), GI-LCH (MESH:D006646)

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12894071/full.md

## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC12894071/full.md

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Source: https://tomesphere.com/paper/PMC12894071