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A Case of Tuberous Sclerosis with Hydrocephalus and Multiple Cardiac Tumors in Neonatal Period

Journal of the Korean Pediatric Society 2000;43(2):294-299.
Published online February 15, 2000.
A Case of Tuberous Sclerosis with Hydrocephalus and Multiple Cardiac Tumors in Neonatal Period
Young Jun Song, Won Seop Kim, Beom Soo Park, Heon Seok Han
Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea
신생아기에 수두증과 심장내 다발성 결절을 동반하여 진단된 결절성경화증 1례
송영준, 김원섭, 박범수, 한헌석
충북대학교 의과대학 소아과학교실
Abstract
Several different tumors in different tissues(including the central nervous system, heart, kidney, liver, bone, and soft tissues) are found to be associated with tuberous sclerosis. In the brain, this tumor characteristically arises from the floor of the lateral ventricle and often occluded the foramen of Monro. Cardiac tumor is among the earliest signs of tuberous sclerosis and occurs in over half of affected patients, but symptomatic primary heart tumors are rare in newborn. Thus, early detections are rare in asymptomatic cases. We experienced a case of tuberous sclerosis, in a 2-day-old female newborn who presented with dilatation of lateral ventricle detected by fetal ultrasonography. Diagnosis was confirmed by brain MRI and echocardiogram demonstrated multiple cardiac tumor. Brief review and related literatures were also presented.
Key Words: Tuberous sclerosis, Hydrocephalus, Cardiac tumor, Newborn


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