- Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study
-
Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS, Lee CS
- KMID: 2538963
- Yonsei Med J.
- 2023 Feb;64(2):133-138.
- doi: 10.3349/ymj.2022.0451
Purpose: To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. Materials and Methods: A total of 98 patients with TSC were... -
- CITED
-
- Close
- SHARE
-
- Close
- A Patient with Tuberous Sclerosis with Hemimegalencephaly Presenting with In tractable Epilepsy in the Early Neonatal Period: A Case Report
-
Shim S, Shin JE, Lee SM, Baek SH, Park JS, Han JH, Park MS, Kang HC, Park EK, Eun HS
- KMID: 2537725
- Perinatology.
- 2022 Dec;33(4):201-207.
- doi: 10.14734/PN.2022.33.4.201
Hemimegalencephaly (HME) is a rare disease characterized by partial or complete hypertrophy of one cerebral hemisphere. It is associated with intractable seizures, developmental delay, hemiparesis, and other neurological symptoms. Tuberous... -
- CITED
-
- Close
- SHARE
-
- Close
- Giant Cardiac Rhabdomyoma with Mixed Atrial Tachycardia and Nonsustained Ventricular Tachycardia in a Newborn with Tuberous Sclerosis
-
Kim KH, Ban JE
- KMID: 2532211
- Ewha Med J.
- 2022 Jul;45(3):e5.
- doi: 10.12771/emj.2022.e5
Cardiac rhabdomyomas are typically presented in the tuberous sclerosis. Although benign and often associated with spontaneous regression, in rare circumstances huge mass size and critical location can lead to heart... -
- CITED
-
- Close
- SHARE
-
- Close
- Everolimus Treatment and Follow-up in an Infant with Neurological Complication Associated with Tuberous Sclerosis Complex
-
Yeom JM, Jo YM, Yu ST, Lee CW
- KMID: 2526378
- Korean J Fam Pract.
- 2022 Feb;12(1):54-58.
- doi: 10.21215/kjfp.2022.12.1.54
Tuberous sclerosis complex affects multiple organ systems and is caused by disinhibition of the mammalian target of rapamycin (mTOR) protein. Everolimus, an mTOR antagonist, is known to reduce the size... -
- CITED
-
- Close
- SHARE
-
- Close
- Bilateral posterior cerebral artery stroke following transtentorial herniation caused by a subependymal giant cell astrocytoma in a patient with tuberous sclerosis: a case report
-
Kim JG, Choi JC, Kim HJ, Rhim JK, Jung TJ, Hyun CL, Joo JD
- KMID: 2523719
- J Neurocrit Care.
- 2021 Dec;14(2):98-102.
- doi: 10.18700/jnc.210034
Background: Acute increased intracranial pressure (IICP) is a life-threatening condition that requires urgent treatment. Rapid IICP with hydrocephalus may be complicated by ischemic stroke, convulsions, loss of consciousness, brain herniation,... -
- CITED
-
- Close
- SHARE
-
- Close
- Diagnosis and surgical treatment of a rare hepatic angiomyolipoma with internal hemorrhage
-
D’Silva M, Na HY, Cho JY, Han HS, Yoon YS, Lee HW, Lee JS, Lee B, Kim M
- KMID: 2523059
- Ann Hepatobiliary Pancreat Surg.
- 2021 Nov;25(4):532-535.
- doi: 10.14701/ahbps.2021.25.4.532
Although angiomyolipoma (AML) is commonly found in the kidney, its appearance in the liver is rare. The first hepatic AML was reported by Ishak in 1976. Since then, there have... -
- CITED
-
- Close
- SHARE
-
- Close
- Regressed Retinal Astrocytic Hamartomas in Tuberous Sclerosis by Mammalian Target of Rapamycin Inhibitor (Everolimus) Treatment
-
Kim H, Park Sh
- KMID: 2516816
- J Korean Ophthalmol Soc.
- 2021 Jun;62(6):862-866.
- doi: 10.3341/jkos.2021.62.6.862
Purpose: We report a case of regressed retinal astrocytic hamartomas (RAHs) in tuberous sclerosis complex (TSC) patients by mammalian target of rapamycin inhibitor (everolimus) treatment. Case summary: A 12-year-old girl... -
- CITED
-
- Close
- SHARE
-
- Close
- Screening of Tuberous Sclerosis-Associated Neuropsychiatric Disorders in Korea Using the TAND Checklist
-
Park S, Eom S, Kang HC, Lee JS, Kim HD, Chung HJ
- KMID: 2509911
- Ann Child Neurol.
- 2021 Jan;29(1):8-14.
- doi: 10.26815/acn.2020.00220
Purpose: The present study aimed to elucidate the clinical characteristics of children with tuberous sclerosis complex (TSC) in Korea using the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) checklist to evaluate the... -
- CITED
-
- Close
- SHARE
-
- Close
- Experience of a Single Center in Treating Multiple Manifestations of Tuberous Sclerosis Complex with Everolimus
-
Ahn H, Yum MS, Jang HN, Song C, Ko TS
- KMID: 2470590
- Ann Child Neurol.
- 2019 Dec;27(4):135-145.
- doi: 10.26815/acn.2019.00206
PURPOSE: The aim of this study was to evaluate the efficacy and tolerability of everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, for the treatment of tuberous sclerosis complex... -
- CITED
-
- Close
- SHARE
-
- Close
- Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study
-
Kim D, Kim HJ, You SJ, Yum MS, Ko TS
- KMID: 2470589
- Ann Child Neurol.
- 2019 Dec;27(4):128-134.
- doi: 10.26815/acn.2019.00185
PURPOSE: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC,... -
- CITED
-
- Close
- SHARE
-
- Close
- Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma
-
Kang MJ, Hong SY, Kwon BY, Jeong JE, Bae JY
- KMID: 2468546
- Perinatology.
- 2019 Dec;30(4):240-243.
- doi: 10.14734/PN.2019.30.4.240
Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs.... -
- CITED
-
- Close
- SHARE
-
- Close
- Use of Topical Rapamycin as Maintenance Treatment after a Single Session of Fractionated COâ‚‚ Laser Ablation: A Method to Enhance Percutaneous Drug Delivery
-
Oh J, Kim J, Lee WJ, Lee JH
- KMID: 2456233
- Ann Dermatol.
- 2019 Oct;31(5):555-558.
- doi: 10.5021/ad.2019.31.5.555
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 5,000 to 10,000 live births. TSC has various clinical manifestations such as multiple... -
- CITED
-
- Close
- SHARE
-
- Close
- Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis
-
Park H, Chang CS, Choi SJ, Oh SY, Roh CR
- KMID: 2451658
- Obstet Gynecol Sci.
- 2019 Jul;62(4):280-284.
- doi: 10.5468/ogs.2019.62.4.280
Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors... -
- CITED
-
- Close
- SHARE
-
- Close
- Severe Hypocalcemia in a Patient with Tuberous Sclerosis Complex
-
Kim K, Kim S, Na KY, Chae DW, Chin HJ
- KMID: 2451518
- Electrolyte Blood Press.
- 2019 Jun;17(1):21-24.
- doi: 10.5049/EBP.2019.17.1.21
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organs, including the brain, skin, lung, and kidney. Among the multiple comorbidities in TSC, bone mineral disturbances remain... -
- CITED
-
- Close
- SHARE
-
- Close
- Tuberous Sclerosis Complex with Crohn's Disease
-
Kim MH, Lee YJ, Kim JY, Yi YY, Kang JW
- KMID: 2437115
- J Korean Child Neurol Soc.
- 2018 Dec;26(4):284-287.
- doi: 10.26815/jkcns.2018.26.4.284
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation of one of two genes, TSC1 (encoding hamartin, 9q34) and TSC2 (encoding tuberin, 16p13). It invades the central... -
- CITED
-
- Close
- SHARE
-
- Close
- Angiomyolipoma of the Glabellar Region
-
Kim HJ, Chung CM, Park JY, Jung SG
- KMID: 2390357
- Arch Craniofac Surg.
- 2017 Sep;18(3):202-206.
- doi: 10.7181/acfs.2017.18.3.202
Angiomyolipomas are hamartomatous lesions consisting of smooth muscle bundles, thick-walled blood vessels, and mature adipocytes. They are usually found in the kidneys of tuberous sclerosis patients and more rarely in... -
- CITED
-
- Close
- SHARE
-
- Close
- Subependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report
-
Kim JY, Jung TY, Lee KH, Kim SK
- KMID: 2378304
- Brain Tumor Res Treat.
- 2017 Apr;5(1):37-41.
- doi: 10.14791/btrt.2017.5.1.37
We report a rare case of subependymal giant cell astrocytoma (SEGA) associated with tumoral bleeding in a pediatric patient without tuberous sclerosis complex (TSC). A 10-year-old girl presented with a... -
- CITED
-
- Close
- SHARE
-
- Close
- Tuberous Sclerosis Presenting with Connective Tissue Nevi Only: Usefulness of Genetic Testing
-
Park SM, Kim JM, Kim GW, Mun J, Song M, Kim HS, Ko HC, Kim BS, Kim MB
- KMID: 2369693
- Korean J Dermatol.
- 2017 Jan;55(1):56-59.
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with variable manifestations. The diagnosis is based on clinical criteria, and is divided into definite, probable, and possible TSC. If patients present... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis
-
Lee SY, Min JA, Lee IG, Kim JJ
- KMID: 2348481
- Clin Psychopharmacol Neurosci.
- 2016 Aug;14(3):305-310.
- doi: 10.9758/cpn.2016.14.3.305
Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first... -
- CITED
-
- Close
- SHARE
-
- Close
- Rare Lung Manifestation of Multifocal Micronodular Pneumocyte Hyperplasia in a Teenage Girl with Tuberous Sclerosis Complex
-
Ha SM, Yoon HK, Lee SK
- KMID: 2344803
- J Korean Soc Radiol.
- 2016 Aug;75(2):133-137.
- doi: 10.3348/jksr.2016.75.2.133
Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH... -
- CITED
-
- Close
- SHARE
-
- Close
