A Case of Alport-leiomyomatosis Syndrome

Mitsumasa Matsuoka, Toshitada Okuma*, Takuo Yamaguchi, Ryojin Uchino, Syunji Kawamoto, Toshifumi Yasukawa

Department of Surgery, Kumamoto Industorial Hospital
*First Department of Surgery, Kumamoto University School of Medicine

An extremely rare case of Alport-leiomyomatosis syndrome in a 23-year-old woman who had complained of dysphagia and chest oppression since 1986 is reported. She was admitted to our hospital because of a mediastinal mass on a chest radiograph in October 1990. We diagnosed the mass as a diffuse type of the esophageal leiomyoma. Subtotal esophagectomy was performed under the left thoracotomy followed by reconstruction using a gastric tube. The tumors in the upper and lower thoracic portion of the esophagus measured 8.5 cm × 5.5 cm and 13.9 cm×7.8 cm in diameter, respectively, with no invasive findings. Pathological examination revealed diffuse hypertrophy of the internal circular muscle of the esophagus. Also the microscopic findings of leiomyomatous changes were found in the middle thoracic portion and oral surgical margin of the esophagus in which we could not detect a tumor macroscopically. No malignant signs were observed. The cases of diffuse leiomyomatosis of the esophagus accompanied by disorders found in the Alport syndrome was well analysed in recent yeas by Garcia-Torres and Orozco⁴⁾, and they have reported as a new syndrome naming Alport-leiomyomatosis syndrome. This case had a hereditary history, nephropathy, clitoral hypertrophy and bilateral myopia co-existed.

Key words
diffuse leiomyomatosis of the esophagus, alport syndrome, esophageal leiomyomatosis

Reprint requests
Mitsumasa Matsuoka First Department of Surgery, Kumamoto University School of Medicine
1-1-1 Honjo, Kumamoto, 860 JAPAN

Accepted
November 9, 1994

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