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Review Article
Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis
Won Seop Kim
Clin Exp Pediatr. 2011;54(6):241-245.   Published online June 30, 2011

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the...

Case Report
Supraventricular tachycardia in a neonate with cardiac rhabdomyoma and tuberous sclerosis
In Kug Bang, Yeo Hyang Kim, Chun Soo Kim, Sang Lak Lee, Tae Chan Kwon
Clin Exp Pediatr. 2008;51(7):766-770.   Published online July 15, 2008
Primary tumors of the heart are uncommon among pediatric patients. Rhabdomyoma is the most frequent cardiac tumor in infants and children, which is commonly associated with tuberous sclerosis. Tuberous sclerosis is a neurocutaneous syndrome affecting the brain, heart, skin, and other organs. Cardiac rhadomyomas are reported in 50-64% of infants with tuberous sclerosis. Tuberous sclerosis involves multiple locations in the...
Original Article
Renal manifestations in tuberous sclerosis complex
Il Cheon Jeong, Ji Tae Kim, You Sik Hwang, Jung A Kim, Jae Seung Lee
Clin Exp Pediatr. 2007;50(2):178-181.   Published online February 15, 2007
Purpose : The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, simple renal cysts, renal cell carcinomas, and angiomyolipomas. All of these occur in children as well as adults in TSC. Angiomyolipomas, which can cause spontaneous life-threatening hemorrhages, are by far the most prevalent and the greatest source of morbidity. Here, we will address...
Case Report
A Case of Tuberous Sclerosis associated with Abdominal Aneurysm
Eun Jeong Lee, So Jeong Yim, Sun Mi Kim, Dae Chul Jeong, Jin Han Kang, Seung Yun Chung
Clin Exp Pediatr. 2004;47(5):583-587.   Published online May 15, 2004
Tuberous sclerosis(TS) is known to be associated with multi-organ involvements, such as neurologic, renal and cardiac abnormalities. Abdominal aortic aneurysms in children and young adults are uncommon, however, some have been observed in patients with TS. We present an 8 month-old female patient with TS who developed aortic aneurysm and underwent successful surgical management. Since an aortic aneurysm is potentially...
A Case of Repeated Ventricular Tachycardia Caused by Cardiac Rhabdomyomas in an Infant with Tuberous Sclerosis
Hee Jung Joo, Min Seob Song, Tae Gyu Hwang, Chul Ho Kim
Clin Exp Pediatr. 2003;46(9):913-917.   Published online September 15, 2003
Cardiac rhabdomyomas are relatively uncommon and associated with tuberous sclerosis in 40-50% cases. We report a 10-month-old infant with tuberous sclerosis who presented with ventricular arrythmias and status epilepticus. There were hypopigmented macules on the body, periventricular calcifications, renal cyst and cardiac rabdomyomas just below the aortic valve. The patient required resection of left ventricular subaortic masses due to sustained...
Two Cases of Left Ventricular Tumors Complicating Subaortic Stenosis in Newborn Infants
Ji Seon Kang, Mi Jung Hwang, Tae Hyoung Cho, Byung Ju Kim, Young Jong Woo, Jae Sook Ma
Clin Exp Pediatr. 2000;43(8):1122-1126.   Published online August 15, 2000
The most common obstruction of left ventricular outflow in childhood is produced either by a fibrous ring below the aortic valve, or by localized or diffuse muscular hypertrophy of the interventricular septum. Cardiac tumors causing subaortic stenosis in the newborn infant are extremely rare. This report describes two cases of subaortic stenosis caused by a tumor of the left ventricle...
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
Clin Exp Pediatr. 2000;43(2):294-299.   Published online February 15, 2000
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...
A Case of Tuberous Sclerosis Complex Developing with Subependymal Giant-Cell Astrocytoma and Hydrocephalus
Ki Hyun Chung, Wan Sub Kim
Clin Exp Pediatr. 1996;39(2):280-286.   Published online February 15, 1996
The subependymal giant-cell astrocytoma, a key feature of the tuberous sclerosis complex, has been reported in patients without obvious features of this condition. The tumor is a rare cerebral glioma that characteristically arise in the wall of lateral ventricle and as an intraventricular mass, causing hydrocephalus by obstruction of the foramen of Monro. We experienced a case of tuberous sclerosis...
A Case of Cardiac Tumor Associated with Tuberous Sclerosis in Newborn
Yong Myung Cho, Woo Seok Kim, Nam Soo Park, Un Jun Hyoung, Eun Ryyoung Kim, Je Geun Chi
Clin Exp Pediatr. 1995;38(2):275-279.   Published online February 15, 1995
Symptomatic primary heart tumors are rare in newborn. Cardiac rhabdomyoma is the most common lesion of the primary heart tumors and over half of them are related to kthe tuberous s clerosis. We described a case of cardiac rhabdomyoma, in a 2 day-old female newborn who presented with dyspnea and cyanosis. A 2D Echocardiogram demonstrated two masses; one is in...
Original Article
Cardiac Rhabdomyoma in Children-A Report of 26 Cases
Ho Sung Kim, Youn Woo Kim, Wun Jung Bae, Chung Il Noh, Jung Yun Choi, Yong Soo Yun
Clin Exp Pediatr. 1994;37(1):61-69.   Published online January 15, 1994
We reviewed 26 cases of Cardiac rhabdomyoma in children which were diagnosed between 1986 and 1991 in Seoul National University Children's Hospital. Twenty-two cases were associated with tuberous sclerosis. Total tumor count was 58 and mean tumor count per patient was 2.23. Their Cardiac rhabdomyoma were diagnosed from fetal period through 12 years after birth. Median age was 9.5 months....
A case of tuberous sclerosis developing with subependymal giant-cell astrocytoma.
Young Chul Ahn, Yong Suk Choi, Pyoung Han Hwang, Jung Soo Kim
Clin Exp Pediatr. 1991;34(7):1027-1033.   Published online July 31, 1991
Subependymal giant-cell astrocytoma is a rare cerebral glioma that characteristically arises in the wall of the lateral ventricle and presents as an intraventricular mass, causing hydrocephalus by obstruction of the foramen of Monro. The tumor mainly occurs in patients with tuberous sclerosis and is slow growing and well circumscribed, so that long survival after total surgical resection is often achieved. We experienced a cas^ of...
Clinical observation on tuberous sclerosis.
Yong Seung Hwang, Yong Soo Yun
Clin Exp Pediatr. 1991;34(7):992-998.   Published online July 31, 1991
Thirty one cases of tuberous sclerosis were seen at the Dept, of Pediatrics, Seoul National University Children’s Hospital. Thirteen cases (41.9%) were diagnosed before 1 year of age and the sex ratio was 2.9:1 with male prefonderance The clinical epileptic manifestations were seen in 28 patients (90.3%), of whom generalized tonic clonic seizures were associated in 12 cases (42.8%) and infantile spasm in 9 cases...
Cardiac Tumor in Children.
Eun Jung Bae, Young Hwue Kim, Jung Yun Choi, Yong Seung Hwang, Hyo Seop Ahn, Yong Soo Yun
Clin Exp Pediatr. 1990;33(11):1540-1547.   Published online November 30, 1990
Primary cardiac tumor is very rare and has been a medical curiosity but is potentially curable by current management with improvements of the imaging apparatus and the surgical technique. Metastatic cardiac tumor is also very rare and is more difficult to diagnose than primary ones because of lack of specific symptoms. Twelve cases of cardiac tumor, collected from 1978 to 1989 at the Department...
Clinical Study on 19 Cases of Neurocutaneous Syndrome in Children.
S H Lee, S J Kim, H D Cha, H S Kim, T C Kwon, C M Kang
Clin Exp Pediatr. 1988;31(3):355-361.   Published online March 31, 1988
The clinical study on 19 cases of neurocutaneous syndrome which were diagnosed at Pediatric Department of Dong San hospital, Keimyung University for last 10 years from Mar. 1975 to Feb. 1985 were performed and following results were obtained. Out of 19 cases, 11 cases were neurofibromatosis, 4 were Tuberous sclerosis and 4 were Sturge- Weber syndrome. 9 cases were male and 10 cases were...
Case Report
A Case of Tuberous Sclerosis.
Ju Kyeong Lee, Kwang Soo Hwang, Kyung Sook Cho, Doo Sung Moon, Chong Dae Cho
Clin Exp Pediatr. 1985;28(5):514-517.   Published online May 31, 1985
We experienced a case of tuberous sclerosis diagnosed by typical clinical manifestations and brain CAT in a 3 year 5 month old girl. We presented the case with the brief review of the literatures.
Original Article
A Clinical Investigation on 10 Patients of Tuberous Sclerosis.
Hee Jung Chung, Myung Jin Kim, Chang Jun Coe
Clin Exp Pediatr. 1983;26(4):373-379.   Published online April 30, 1983
We reviewed 10 cases of Tuberous sclerosis clinically during the last 2 years from March 1980 to June 1982 and the following conclusion was obtained: 1) The younger children may have cafe au lait spots and depimentation with seizure and psychomotor retardation as the diagnostic clues, while the older one may have Adenoma sebaceum. 2) Computerized tomography of brain is essential for diagnosis as it discloses...
Case Report
A Case of Tuberous Sclerosis And Review of Literatures on 25 Cases Reported in Korea.
Yoon Ja Kim, Soo Kyung Jeong, Nam Ji Cho
Clin Exp Pediatr. 1983;26(3):290-294.   Published online March 31, 1983
We experienced a case of tuberous sclerosis who had typical triad-adenoma sebaceum, mental deficiency, and epileptic seizure-associated with hydrocephalus in 12 years old girl. We made a review of literatures on 25 cases of tuberous sclerosis which were reported in Korea.
A Case of Tuberous Sclelosis with Renal Angiomyolipoma.
H K Park, H J Park, H J Chun, M J Shin, J S Choi
Clin Exp Pediatr. 1982;25(11):1170-1174.   Published online November 30, 1982
Tuberous sclerosis is a heredofamilial disease and is a multisystem disorder affecting primarily tissues derived from ectoderm, such as skin, eye, central and peripheral nervous system, but also involving organs of mesodermal and endodermal origins, such as heart, lungs, kidneys, bones and GI tract. It is characterized by classical triad of mental retard- ation, epilepsy and angiofibroma. We experienced a full blown case of tuberous...
A Case of tuberous Sclerosis with Polycystic Kidney.
Won Ik Lee, Il Sin Moon, Poong Man Lee, Jae Chung Lee
Clin Exp Pediatr. 1981;24(11):1100-1105.   Published online November 15, 1981
Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental ratardation, cutaneous lesions and visceral hamartomas. The usual renal lesion in tuberous sclerosis is the angiomyolipoma which is a hamartomas, but polycystic kidney is relatively rare. We confirmed tuburous sclerosis on the base of the radiological and clinical characterics in 8 years old girl of mental deficiency with four...
Two Cases of Tuberous Sclerosis.
Yang Kook Sohn, Chong Woo Bae, Chang Hyo Lee, Chang Il Ahn
Clin Exp Pediatr. 1981;24(5):497-501.   Published online May 15, 1981
Recently, we experienced two cases of tuberous sclerosis, in 4-year-4-month-old female and 17-month-old male patient. The diagnoses were established by typical clinical manifestations and brain CAT. Especially, in latter case, calcific density was successfully detected by brain CAT, while plain radiographs of the skull revealed still no evidence of calcification. A brief review of related literatures was made.
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