Abstract
A patient with Alport-leiomyomatosis syndrome in which leiomyomatosis was associated with Alport syndrome was treated. This patient was an 8-year-old boy. He visited the hospital with a chief complaint of vomiting and blood in the urine. A marked wall thickening from the lower thoracic esophagus to the abdominal esophagus was observed in CT and MRI, and stenosis and disorder of esophageal lumen due to tumor formation were observed in esophagography. Moreover, the middle intrathoracic esophageal wall became thickened diffusely. Leiomyomatosis was proved in tumor biopsy, and COL4A5 defect was observed in glomerular basement membrane in renal biopsy. Lower esophagectomy and cardiectomy were conducted because of the disorder of the esophagus. Although a diffuse leiomyomatosis still remains in the esophagus two years after the operation, no tendency for enlargement of the tumor is seen. The prognosis of this syndrome is poor due to renal damage from Alport syndrome. Alport-leiomyomatosis syndrome is an X-linked dominantly inherited disease, and only six cases including our own experience have been reported in this country. Since his mother and sister (already dead) also had lesions in their esophagi and kidneys with a high possibility of the same disease, a prudent heredity consultation is needed.
