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Journal of the Korean Child Neurology Society 2006;14(1):164-168.
Published online May 30, 2006.
A Case of a Splenic Hamartoma in Tuberous Sclerosis.
Hye Young Jin, Sun Young Kim, Keon Su Lee
Department of Pediatrics, College of Medicine, Chungnam National University, Daejeon, Korea. ksulee@cnu.ac.kr
Abstract
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.
Key Words: Tuberous sclerosis, Splenic hamartoma


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