결절성 경화증에서 발생한 비장의 과오종 1례

A Case of a Sp lenic Hamartoma in Tuberous Sclerosis

저자들은 좌상복부 종괴를 주소로 내원한 8세 여아에서 결절성 경화증에 동반된 비장의 과오종을 보인 증례를 경험하였기에 보고하는 바이다.

Tuberous sclerosis is a neurocutaneous syndrome with autosomal dominant inheritance with variable penetrances and the incidence is approximately one in 10,000 live births. It is described as a clinical triad of mental retardation, seizures and adenoma sebaceum. Tuberous sclerosis is characterized by the development of hamartomas and benign neoplasms involving the brain and other organs. Typical lesions include cortical tubers and subependymal hamartomas in the brain, rhabdomyomas in the heart, angiofibromas and periungual fibromas of the skin and angiomyolipomas in the kidney. A splenic hamartoma is a rare benign lesion. Only about 100 cases have been reported since its first description by Rokitansky in 1861. We report a case of child with a splenic hamartoma associated with tuberous sclerosis.