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Diffuse esophageal leiomyomatosis: A case report with surgical correlation.
Jordan B Rapp1, Sean Ciullo2, Mary G Mallon3
1Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Clinical Imaging
|August 5, 2019
Summary
A rare condition called diffuse esophageal leiomyomatosis caused a 15-year-old female
Area of Science:
- Gastroenterology
- Radiology
- Pathology
Background:
- Diffuse esophageal leiomyomatosis (DEL) is a rare condition characterized by benign smooth muscle tumors in the esophagus.
- It can be associated with inherited syndromes or occur sporadically.
- Long-standing dysphagia and chest pain are common presenting symptoms.
Observation:
- A 15-year-old female presented with dysphagia and chest pain.
- Initial chest radiograph revealed a large mass, leading to further cross-sectional imaging.
- Imaging demonstrated extensive, diffuse esophageal thickening.
Findings:
- Biopsy and surgical resection confirmed diffuse esophageal leiomyomatosis.
- The case highlights the imaging features of DEL across multiple modalities.
- Radiography, fluoroscopy, CT, and MRI were utilized for diagnosis and correlation.
Implications:
- This case report contributes to the understanding of DEL imaging characteristics.
- Early recognition and diagnosis are crucial for appropriate management.
- Further research into the genetic associations and optimal treatment strategies is warranted.
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