We report a rare case of peripheral neuropathy caused by Charcot-Marie-Tooth disease (CMT) in which a schwannoma of the esophagus was coincidentally found. A 41-year-old woman was found to have an upper mediastinal tumor, 25 mm in size, on a chest CT while undergoing an examination for CMT. Upper gastrointestinal endoscopy showed a submucosal tumor, however we were unable to give a diagnosis with an endoscopic ultrasoundguided fine-needle aspiration biopsy. Esophageal submucosal tumor resection was performed with thoracoscopic assistance. The tumor was composed of spindle cells with palisaded patterns. Immunohistochemical studies revealed the tumor cells were diffusely positive for S-100 protein and low levels of Ki-67 expression, which represents schwannoma. The patient is now being treated for CMT. Although it seems that the co-occurrence of CMT and esophageal schwannoma would be extremely rare, these could be caused by a same genetic abnormality.
- Charcot-Marie-Tooth disease
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