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Journal articles on the topic 'Tuberous sclerosis'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 January 2023

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1

Wong, Virginia. "Study of the Relationship Between Tuberous Sclerosis Complex and Autistic Disorder." Journal of Child Neurology 21, no. 3 (March 2006): 199–204. http://dx.doi.org/10.2310/7010.2006.00046.

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There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknown. We studied two cohorts of children followed up since 1986 until 2003, one cohort with tuberous sclerosis complex and another cohort with autistic disorder, to determine the incidence of autistic disorder in tuberous sclerosis complex and the incidence of tuberous sclerosis complex in autistic disorder respectively. We established a Tuberous Sclerosis Complex Registry in 1985 at the University of Hong Kong. In 2004, 44 index cases (the male to female ratio was 0.75:1) were registered. Three had a positive family history of tuberous sclerosis complex. Thus, the total number of tuberous sclerosis complex cases was 47. We adopted the diagnostic criteria of tuberous sclerosis complex for case ascertainment. The period prevalence rate of tuberous sclerosis complex for children and adolescents aged < 20 years is 3.5 per 10,000 (on Hong Kong island, excluding the eastern region with 125,100 aged < 20 years in 2003). Of 44 cases with tuberous sclerosis complex, 7 had autistic disorder. Thus, the incidence of autistic disorder in tuberous sclerosis complex is 16%. During the 17-year period (1986—2003), we collected a database of 753 children (668 boys and 84 girls; male to female ratio 8:1) with autistic disorder and pervasive developmental disorders. For all children with autistic disorder or pervasive developmental disorders, we routinely examined for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots, which appear in 50% of children with tuberous sclerosis complex by the age of 2 years. For those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, seven had tuberous sclerosis complex. Thus, the incidence of tuberous sclerosis complex in autistic disorder is 0.9%. All of these children are mentally retarded, with moderate to severe grades in an intellectual assessment conducted by a clinical psychologist. Future studies should be directed toward looking at the various behavioral phenotypes in tuberous sclerosis complex and defining these with standardized criteria to look for any real association with the underlying genetic mutation of TSC1 or TSC2 gene or even the site of tubers in the brain. ( J Child Neurol 2006;21:199—204; DOI 10.2310/7010.2006.00046).

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2

Panwar, Praveen Kumar. "Tuberous Sclerosis." Delhi Journal of Ophthalmology 24, no. 3 (March 1, 2014): 192–94. http://dx.doi.org/10.7869/djo.41.

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3

Rahmoune, Hakim, Nada Boutrid, and Belkacem Bioud. "Tuberous sclerosis." Cumhuriyet Medical Journal 35, no. 1 (March 22, 2013): 133–34. http://dx.doi.org/10.7197/1305-0028.1924.

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4

Monahov, K. N., O. L. Romanova, P. O. Amelina, K. Yu Molodyh, Yu S. Astahov, P. A. Nechiporenko, and L. K. Atlasova. "Tuberous Sclerosis." Vestnik dermatologii i venerologii, no. 5 (January 1, 2017): 82–88. http://dx.doi.org/10.25208/0042-4609-2017-93-5-82-88.

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5

George, Anisha, Bimal Kanish, and Anuradha Bhatia. "Tuberous sclerosis." Indian Dermatology Online Journal 6, no. 2 (2015): 142. http://dx.doi.org/10.4103/2229-5178.153026.

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6

Brochwicz-Lewinski, M., and D. Patel. "Tuberous Sclerosis." Journal of the Royal College of Physicians of Edinburgh 30, no. 3 (September 2000): 204–6. http://dx.doi.org/10.1177/147827150003000304.

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7

Millichap, J. Gordon. "Tuberous Sclerosis." Pediatric Neurology Briefs 2, no. 1 (January 1, 1988): 3. http://dx.doi.org/10.15844/pedneurbriefs-2-1-3.

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8

Millichap, J. Gordon. "Tuberous Sclerosis." Pediatric Neurology Briefs 2, no. 8 (August 1, 1988): 57. http://dx.doi.org/10.15844/pedneurbriefs-2-8-1.

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9

Mollah, MAH, and Shegufta Rahman. "Tuberous Sclerosis." Journal of Bangladesh College of Physicians and Surgeons 31, no. 4 (November 29, 2014): 230–31. http://dx.doi.org/10.3329/jbcps.v31i4.21011.

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10

James, Neil. "Tuberous sclerosis." Learning Disability Practice 22, no. 3 (May 30, 2019): 14. http://dx.doi.org/10.7748/ldp.22.3.14.s16.

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11

Berns, David H., Thomas J. Masaryk, Barbara Weisman, Michael T. Modic, and Susan I. Blaser. "Tuberous Sclerosis." Journal of Computer Assisted Tomography 13, no. 5 (September 1989): 896–98. http://dx.doi.org/10.1097/00004728-198909000-00028.

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12

Fryer, A. E. "Tuberous Sclerosis." Journal of the Royal Society of Medicine 84, no. 12 (December 1991): 699–701. http://dx.doi.org/10.1177/014107689108401202.

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13

Paulson, G. W., and C. B. Lyle. "Tuberous Sclerosis." Developmental Medicine & Child Neurology 8, no. 5 (November 12, 2008): 571–86. http://dx.doi.org/10.1111/j.1469-8749.1966.tb01804.x.

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14

Kim, Bong-Soo, Victoria LaMarca, and George I. Jallo. "Tuberous Sclerosis." Pediatric Neurosurgery 37, no. 5 (2002): 276–77. http://dx.doi.org/10.1159/000066208.

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15

Wood, B. P., E. Lieberman, B. Landing, and B. Marcus. "Tuberous sclerosis." American Journal of Roentgenology 158, no. 4 (April 1992): 750. http://dx.doi.org/10.2214/ajr.158.4.1546585.

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16

Salama, Alan D., and Charles D. Pusey. "Tuberous Sclerosis." New England Journal of Medicine 338, no. 26 (June 25, 1998): 1886. http://dx.doi.org/10.1056/nejm199806253382605.

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17

Stefansson, Kari. "Tuberous Sclerosis." Mayo Clinic Proceedings 66, no. 8 (August 1991): 868–72. http://dx.doi.org/10.1016/s0025-6196(12)61207-5.

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18

Curatolo, Paolo, Roberta Bombardieri, and Sergiusz Jozwiak. "Tuberous sclerosis." Lancet 372, no. 9639 (August 2008): 657–68. http://dx.doi.org/10.1016/s0140-6736(08)61279-9.

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19

Hanno, Ruth, and Roy Beck. "Tuberous Sclerosis." Neurologic Clinics 5, no. 3 (August 1987): 351–60. http://dx.doi.org/10.1016/s0733-8619(18)30910-1.

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20

Roach, E. S., and Mauricio R. Delgado. "Tuberous Sclerosis." Dermatologic Clinics 13, no. 1 (January 1995): 151–61. http://dx.doi.org/10.1016/s0733-8635(18)30118-9.

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21

Rosman, N. Paul. "Tuberous Sclerosis." Mayo Clinic Proceedings 64, no. 4 (April 1989): 484–85. http://dx.doi.org/10.1016/s0025-6196(12)65752-8.

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22

Willems, M. H. A., H. Stroink, and A. P. Oranje. "Tuberous sclerosis." Clinical Neurology and Neurosurgery 90, no. 3 (January 1988): 293. http://dx.doi.org/10.1016/0303-8467(88)90062-5.

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23

Tillman, Hilde H., and Frank De Caro. "Tuberous sclerosis." Oral Surgery, Oral Medicine, Oral Pathology 71, no. 3 (March 1991): 301–2. http://dx.doi.org/10.1016/0030-4220(91)90304-u.

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24

O'Callaghan, F. J. K. "Tuberous sclerosis." BMJ 318, no. 7190 (April 17, 1999): 1019–20. http://dx.doi.org/10.1136/bmj.318.7190.1019.

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25

Yates, John R. W. "Tuberous sclerosis." European Journal of Human Genetics 14, no. 10 (July 26, 2006): 1065–73. http://dx.doi.org/10.1038/sj.ejhg.5201625.

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26

Webb, D. W., and J. P. Osborne. "Tuberous sclerosis." Archives of Disease in Childhood 72, no. 6 (June 1, 1995): 471–74. http://dx.doi.org/10.1136/adc.72.6.471.

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27

Hered, Robert W. "Tuberous Sclerosis." Archives of Ophthalmology 110, no. 3 (March 1, 1992): 410. http://dx.doi.org/10.1001/archopht.1992.01080150112038.

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28

Kwiatkowski, David J. "Tuberous Sclerosis." Archives of Dermatology 130, no. 3 (March 1, 1994): 348. http://dx.doi.org/10.1001/archderm.1994.01690030080013.

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29

Schnur, Rhonda E. "Tuberous Sclerosis." Archives of Dermatology 131, no. 12 (December 1, 1995): 1460. http://dx.doi.org/10.1001/archderm.1995.01690240126024.

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30

Kwiatkowski, D. J. "Tuberous sclerosis." Archives of Dermatology 130, no. 3 (March 1, 1994): 348–54. http://dx.doi.org/10.1001/archderm.130.3.348.

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31

Morse, R. P. "Tuberous Sclerosis." Archives of Neurology 55, no. 9 (September 1, 1998): 1257–58. http://dx.doi.org/10.1001/archneur.55.9.1257.

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32

Williams, Robert, and David Taylor. "Tuberous sclerosis." Survey of Ophthalmology 30, no. 3 (November 1985): 143–54. http://dx.doi.org/10.1016/0039-6257(85)90058-x.

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33

Jay, Venita. "Tuberous Sclerosis." Pediatric and Developmental Pathology 2, no. 2 (March 1999): 197–98. http://dx.doi.org/10.1007/s100249900110.

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34

Dreifuss, Fritz E. "Tuberous Sclerosis." JAMA: The Journal of the American Medical Association 261, no. 3 (January 20, 1989): 455. http://dx.doi.org/10.1001/jama.1989.03420030129053.

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35

Bajaj, Mohit, Swati Mahajan, Rattan Sagar, and Amit Kumar. "Case report on tuberous sclerosis." Asian Pacific Journal of Health Sciences 6, no. 2 (June 2019): 120–22. http://dx.doi.org/10.21276/apjhs.2019.6.2.17.

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36

Surwade, Gajanan A., Uddhav S. Khaire, Sagar P. Patil, Mamta K. Mulay, and Mangala S. Borkar. "Familial Tuberous Sclerosis: a case report." International Journal of Scientific Reports 2, no. 3 (March 19, 2016): 53. http://dx.doi.org/10.18203/issn.2454-2156.intjscirep20160716.

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<p class="abstract"><span lang="EN-US">Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis complex Syndrome caused by mutations of either the TSC1 orTSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumors; the most common oral manifestations of TSC are fibromas (angiofibromas), gingival hyperplasia and enamel hypoplasia and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of gene for the disease when carefully examined. We report a case of 25 year old female with the features of Tuberous sclerosis complex like seizures, papules over the cheek, shagreen patch, hypomelanotic macule on arm, buttacks, pulmonary lymphangioleiomyomatosis, subependymal nodules and tubers in brain, angiomyolipoma in both kidneys and Cardiac rhabdomyoma. This article reports on a family with documented tuberous sclerosis in three generations.</span></p>

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37

Griffiths, P. D., P. Bolton, and C. Verity. "White matter abnormalities in tuberous sclerosis complex." Acta Radiologica 39, no. 5 (September 1998): 482–86. http://dx.doi.org/10.1080/02841859809172211.

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Purpose: the aim of this study was to investigate and describe the range of white matter abnormalities in children with tuberous sclerosis complex by means of MR imaging Material and Methods: A retrospective cross-sectional study was performed on the basis of MR imaging findings in 20 cases of tuberous sclerosis complex in children aged 17 years or younger Results: White matter abnormalities were present in 19/20 (95%) cases of tuberous sclerosis complex. These were most frequently (19/20 cases) found in relation to cortical tubers in the supratentorial compartment. White matter abnormalities related to tubers were found in the cerebellum in 3/20 (15%) cases. White matter abnormalities described as radial migration lines were found in relation to 5 tubers in 3 (15%) children. in 4/20 (20%) cases, white matter abnormalities were found that were not related to cortical tubers. These areas had the appearance of white matter cysts in 3 cases and infarction in the fourth. in the latter case there was a definable event in the clinical history, supporting the diagnosis of stroke Conclusion: A range of white matter abnormalities were found by MR imaging in tuberous sclerosis complex, the commonest being gliosis and hypomy-elination related to cortical tubers. Radial migration lines were seen infrequently in relation to cortical tubers and these are thought to represent heterotopic glia and neurons along the expected path of cortical migration

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38

Polyanskaya, M. V., I. G. Vasilyev, V. A. Chadaev, A. A. Demushkina, G. Sh Khondkaryan, N. N. Zavadenko, and A. A. Alikhanov. "Surgical treatment of epilepsy in a teenager with tuberous sclerosis." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 2 (May 15, 2020): 92–98. http://dx.doi.org/10.21508/1027-4065-2020-65-2-92-98.

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Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis.

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39

Islam, Monica P. "Tuberous Sclerosis Complex." Seminars in Pediatric Neurology 37 (April 2021): 100875. http://dx.doi.org/10.1016/j.spen.2021.100875.

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40

Notaro, Kelliann, and Bradley Pierce. "Tuberous sclerosis complex." Journal of the American Academy of Physician Assistants 34, no. 3 (March 2021): 28–33. http://dx.doi.org/10.1097/01.jaa.0000733220.26720.62.

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41

Pascual Castroviejo, Ignacio. "Tuberous Sclerosis Complex." Revista de Neurología 29, no. 12 (1999): 1358. http://dx.doi.org/10.33588/rn.2912.99569.

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42

Karle, Anarya H. "Tuberous Sclerosis Complex." International Journal of Scientific and Research Publications (IJSRP) 12, no. 2 (February 24, 2022): 20. http://dx.doi.org/10.29322/ijsrp.12.02.2022.p12204.

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43

Vázquez-Lavista, Luis Gabriel, José Arturo Ramírez-Muciño, Perla Ximena López-Almanza, and Marcela Janka-Zires. "Tuberous Sclerosis Complex." Urology 160 (February 2022): 19–21. http://dx.doi.org/10.1016/j.urology.2021.10.024.

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44

Carmona, Jesica Martín, Elisabeth Gómez Moyano, Ana Raquel de Castro Almeida, and Leandro Martínez Pilar. "Tuberous sclerosis complex." Cleveland Clinic Journal of Medicine 88, no. 7 (July 2021): 367–68. http://dx.doi.org/10.3949/ccjm.88a.20075.

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45

Rodrigues, Daniela Araujo, Ciro Martins Gomes, and Izelda Maria Carvalho Costa. "Tuberous sclerosis complex." Anais Brasileiros de Dermatologia 87, no. 2 (April 2012): 184–96. http://dx.doi.org/10.1590/s0365-05962012000200001.

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Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.

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46

Chathra, Namitha, and MRamesh Bhat. "Tuberous sclerosis complex." Muller Journal of Medical Sciences and Research 5, no. 1 (2014): 91. http://dx.doi.org/10.4103/0975-9727.128969.

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47

Letourneau, Karen, Chris Harrington, Martin Reed, and Martin Bunge. "Tuberous Sclerosis Complex." Journal of Diagnostic Medical Sonography 21, no. 6 (November 2005): 491–96. http://dx.doi.org/10.1177/8756479305282717.

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48

Phelps, Randall. "Tuberous Sclerosis Complex." Journal of Developmental & Behavioral Pediatrics 26, no. 4 (August 2005): 331. http://dx.doi.org/10.1097/00004703-200508000-00013.

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49

Seidenwurm, D. J., and A. J. Barkovich. "Understanding tuberous sclerosis." Radiology 183, no. 1 (April 1992): 23–24. http://dx.doi.org/10.1148/radiology.183.1.1549678.

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50

Hsieh, David T., Susan L. Whiteway, Luis O. Rohena, and Elizabeth A. Thiele. "Tuberous sclerosis complex." Neurology: Clinical Practice 6, no. 4 (June 17, 2016): 339–47. http://dx.doi.org/10.1212/cpj.0000000000000260.

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