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[Chronic diarrhea as the main symptom of histiocytosis X]
K Pittschieler1, G Radetti, E Egarter
1Pädiatrische Gastroenterologie, Regionalkrankenhaus Bozen, Italien.
Insights
Histiocytosis X in an infant presented with severe gastrointestinal symptoms like chronic diarrhea, vomiting, and weight loss. Diagnosis involved imaging, protein loss assessment, and rectal biopsies confirming histiocytes.
Area of Science:
- Pediatric Gastroenterology
- Pediatric Pathology
- Pediatric Oncology
Background:
- Histiocytosis X, now known as Langerhans cell histiocytosis (LCH), can present with diverse and severe symptoms in infants.
- Gastrointestinal involvement in LCH is uncommon but can lead to significant morbidity.
- Early and accurate diagnosis is crucial for effective management of infantile LCH.
Abstract:
A chronic diarrhea accompanied by vomiting and weight loss was the major symptom in a one-year-old infant during a fulminant course of histiocytosis X. The diagnosis was suggested by the radiologic evidence of alternating dilated and stenotic segments in the small and large bowel as well by a massive intestinal protein loss and the presence of histiocytes in the mucosa and submucosa of the rectum. The histological picture of enlarged mesenteric lymph nodes, obtained during a diagnostic laparotomy, confirmed the diagnosis.