2017 Volume 30 Issue 1 Pages 41-47
Alport-leiomyomatosis syndrome (A-LS) is a rare disease, in which diffuse leiomyomatosis occurs in patients with Alport syndrome. Here, we report on a case of A-LS incidentally detected by radiographic examination performed for symptoms of the common cold. The case was a boy who was undergoing follow-up observation in the outpatient department after being diagnosed with Alport syndrome from a result of the detection of complete deficiency of the type IV collagen alpha 5 chain via renal biopsy performed at the age of 6. An abnormal shadow was observed on a chest x-ray performed for symptoms of the common cold at the age of 10. Follow-up examination indicated diffuse leiomyomatosis in the esophagus and he was diagnosed with A-LS. The fact that leiomyoma was observed in the rectum as well as the esophagus made this a rare case. Genetic analysis revealed extensive deficiency from COL4A5 to COL4A6, which was the same gene loss pattern as reported in previous studies. This case was considered sporadic because no gene mutation was detected in the patient’s mother. This case was considered sporadic due to this result. Due to the possibility that leiomyomatosis may occur in multiple organs in the future, this case requires continued observation.
