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Gastrointestinal multicentric infantile myofibromatosis: characteristic histology on rectal biopsy
1Department of Pathology, Oregon Health Sciences University, Portland.
Insights
A rare condition, multicentric infantile myofibromatosis, can cause severe diarrhea and growth failure in infants. Rectal biopsy can aid in diagnosing this gastrointestinal manifestation of the disease.
Area of Science:
- Pediatric Pathology
- Gastroenterology
- Oncology
Background:
- Multicentric infantile myofibromatosis (MIOM) is a rare neoplastic proliferation of myofibroblasts.
- Gastrointestinal involvement in MIOM can lead to significant clinical manifestations, including diarrhea.
- Early diagnosis is crucial for management, though challenging due to the rarity of the condition.
Observation:
- A 10-week-old infant presented with growth failure and severe watery diarrhea.
- Rectal biopsy revealed diffuse mucosal fibrosis, prompting further investigation.
- Histologic examination of masses confirmed multicentric infantile myofibromatosis.
Findings:
- The infant's intestines showed continuous, diffuse, and nodular mucosal and submucosal fibrosis.
- The patient succumbed at 16 weeks of age, with tumor nodules in multiple organs.
- This case highlights prominent gastrointestinal symptoms in a patient with MIOM.
Implications:
- Rectal biopsy is a valuable diagnostic tool for infantile myofibromatosis presenting with gastrointestinal symptoms.
- Increased awareness of GI manifestations of MIOM is needed for timely diagnosis.
- Understanding the histopathology of GI fibrosis in MIOM can improve patient outcomes.
Abstract:
A 10-wk-old girl with growth failure and increasingly severe watery diarrhea underwent rectal biopsy which revealed diffuse mucosal fibrosis. Subsequent histologic study of mediastinal and subcutaneous masses established the diagnosis of multicentric infantile myofibromatosis. The patient died at 16 wk of age with tumor nodules in several visceral and parietal structures. The small and large intestines contained continuous, diffuse and nodular, mucosal and submucosal fibrosis. Twelve previously reported cases of multicentric infantile myofibromatosis involved the gastrointestinal tract; four had prominent gastrointestinal clinical manifestations. In two, diarrhea was prominent. The present case demonstrates the potential value of rectal biopsy in the diagnosis of infantile myofibromatosis with gastrointestinal manifestations.