tuberous sclerosis medscapeJanuary 17, 2021
Franz DN, Belousova E, Sparagana S et al. Typical ash leaf macules; the reddish, nodular area at the upper lumbar area is a shagreen patch. 1992 Sep. 2(1):37-41. Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. Pediatr Neurol. In the study, 118 patients (median age 31) from 24 centers in 11 countries received either everolimus (n=79) or placebo (n=39). The arrow shows the anterior aspect of the aneurysm where it abuts the clivus. She became seizure free after partial hemispherectomy. 2013;49:255-265. Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. 1997 Aug. 34(8):637-9. Frontal lobe epilepsy associated with tuberous sclerosis: electroencephalographic-magnetic resonance image fusioning. 2006 May. [Medline]. The goal of this activity is to discuss the most up-to-date understanding of tuberous sclerosis complex, including optimal strategies for diagnosis and treatment. Curatolo P, Verdecchia M, Bombardieri R. Vigabatrin for tuberous sclerosis complex. Annotation: tuberous sclerosis. A small number of patients with TSC may develop arterial aneurysms. Flanagan N, O''Connor WJ, McCartan B, et al. Krueger DA and Northrup H on behalf of the InternationalTuberous Sclerosis Complex Consensus Group. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. In: Pathology and Genetics of Tumours of the Nervous System. Camposano SE, Major P, Halpern E, Thiele EA. Dev Med Child Neurol. In 1908 Vogt set forth the triad of intractable epilepsy, mental retardation, and adenoma sebaceum; this description (until relatively recently) represented the hallmark of tuberous sclerosis complex (TSC) to most clinicians. [Medline]. Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs), Cutaneous findings: The best-known cutaneous manifestation of TSC is adenoma sebaceum, which often does not appear until late childhood or early adolescence. [Medline]. 2002 Jul. 1997:497-502. 1996 Dec. 132(6):1263-5. Aneurysms have been reported intracranially [Medline]. Tuberous sclerosis complex and neonatal seizures. 69(1):79-100. 42(1):50-2. Lancet. They are highly susceptible to complications of urinary tract infection (UTI) or nephrolithiasis, which can produce acute renal failure. Henske EP, Wessner LL, Golden J, et al. Hum Mol Genet. [Medline]. N Engl J Med. Parisi P, Bombardieri R, Curatolo P. Current role of vigabatrin in infantile spasms. 2500010-overview Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy. Cardiac rhabdomyomas and their association with tuberous sclerosis. About 20% of tubers may show changes in imaging characteristics over time, requiring close imaging follow-up. [Full Text]. Gingival hyperplasia from other causes (eg, phenytoin use) is more diffuse and usually not nodular/focal in nature. 2000 May. Cameron W Thomas, MD, MS Assistant Professor of Pediatrics and Neurology, Department of Neurology, Cincinnati Children's Hospital Medical Center Clinically, TSC exhibits an autosomal dominant inheritance pattern, with a high spontaneous mutation rate. Persons with dental involvement may have had their teeth sealed or bonded for pitting, or a gingival fibroma resected. Pediatr Res. 33(3):639-42. When LAM is suspected clinically, high-resolution CT of the chest is the most sensitive diagnostic modality. Mammalian target of rapamycin (mTOR) activates the protein S6 kinase, which enhances cell growth and protein synthesis. Epilepsia. Under optimal circumstances, genetic testing identifies mutations in up to 75-80% of affected individuals. These usually arise from an enlarging AML, resulting in retroperitoneal hemorrhage. Pediatr Pulmonol. 2005 Mar. Larson AM; Pfeifer HH; Thiele EA. December 9, 2019 by Harry Hall. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Complications of neurological involvement are the most common causes of mortality and morbidity. Effects of rapamycin in the Eker rat model of tuberous sclerosis complex. Symptoms can result from local irritation, such as that created by shoes, dentures, shaving, and disruption of the nail bed. Recent research has identified phenotypic differences as they may relate to particular genotypes. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. J Child Neurol. [Medline]. 40 Suppl 5:S71-80. Boehler A, Speich R, Russi EW, Weder W. Lung transplantation for lymphangioleiomyomatosis. 1997 Aug. 34(8):637-9. 2000 May 23. Does the tuberous sclerosis complex include intracranial aneurysms? 2006 March. In: Pathology and Genetics of Tumours of the Nervous System. 164(4):661-8. 2006 Sep 28. Am J Respir Crit Care Med. [Medline]. 2013 Jan 10. Subependymal nodules may increase in size over time from one scan to the next, and then stabilize. Coppola G, Klepper J, Ammendola E et al. Jan 11, 2013. 1995 Aug. 26(2):516-20. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM. French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. She Tuberous sclerosis or Bourneville’s disease is an autosomal had ash leaf macules on the back. The lesion was not present on MRI performed 11 months earlier. Morbidity associated with tuberous sclerosis: a population study. Jost CJ, Gloviczki P, Edwards WD, et al. Tuberous sclerosis complex: genetics to pathogenesis. Multiple cystic lesions may result in respiratory insufficiency or even pulmonary hypertension with cor pulmonale (usually in the case of LAM). 335(17):1275-80. In: Greenfield's Neuropathology. [Medline]. End-stage renal disease can occur, as a result of either destruction of normal renal parenchyma by an enlarging AML or polycystic kidney disease. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. [Medline]. Smooth muscle cells undergo abnormal proliferation with secondary compromise of bronchioles, venules, and lymphatic structures. Pre-embolization angiography of the patient with angiomyolipomas shown the previous image. Am J Pathol. SEGAs can grow, often in an extremely indolent fashion, resulting in ventricular obstruction and hydrocephalus. Ann Neurol. Other symptoms become more obvious in childhood, such as developmental delay and skin changes. Van Slegtenhorst M, Nellist M, Nagelkerken B. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. J Child Neurol. Holley DG, Martin GR, Brenner JI, et al. [Medline]. Langkau N, Martin N, Brandt R. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 2007 Nov. 11(6):331-6. London: Oxford University Press. The tuberous sclerosis complex. Older persons 358(2):140-51. 2001 Mar. Laboratory studiesLaboratory studies are performed as indicated clinically to identify genetic mutations associated with TSC, monitor anticonvulsant treatment, identify idiosyncratic or dose-related adverse effects, and identify or monitor underlying renal or pulmonary disease. Dysplastic periungual fibroma involving the great toe in a patient with tuberous sclerosis. Hancock E, Osborne JP. 99(1-2):180-2. Annotation: tuberous sclerosis. 54(10):1976-84. Adenoma sebaceum may be disfiguring. [Full Text]. Therefore, a negative genetic diagnostic test result does not exclude a diagnosis of tuberous sclerosis. J Child Neurol. 1992 Nov. 67(11):1363-5. 2002 Cardiac rhabdomyomas and their association with tuberous sclerosis. J Child Psychol Psychiatry. Tuberous sclerosis, also tuberous sclerosis complex (abbreviated TSC), is an autosomal dominant syndrome associated with an increased risk of hamartomas and some risk increase for malignant tumours.. 164(4):661-8. Gates J, Jordan JE. [Medline]. Catheter placed in proximity to lesion, balloon inflated. [Medline]. N Engl J Med. Seizures, autism, and developmental delays present in infancy or childhood. 363(19):1801-11. Enbergs A, Borggrefe M, Kurlemann G, et al. Arnold Edward. 1998 Dec. 13(12):624-8. Drugs, encoded search term (Tuberous Sclerosis) and Tuberous Sclerosis, Pancreatic Neuroendocrine (Islet Cell) Tumor Imaging, Systemic Treatment of Metastatic Gastroenteropancreatic Neuroendocrine Tumors, CRC Risk in Young Adults: Not as High as Previously Reported, Positive Takeaways From This Annus Horribilis, The Clinical Features and Molecular Mechanisms of ACTH-Secreting Pancreatic Neuroendocrine Tumors, On Strike or Working Overtime: 12 Endocrine Emergencies. The first signs of tuberous sclerosis may occur at birth. Diseases & Conditions, 2003 SENs are noted about the wall of the lateral ventricles and may be either discrete or roughly confluent areas of firm, rounded hypertrophic tissue. SENs may occur anywhere along the ventricular surface, but most commonly occur at the caudothalamic groove in the vicinity of the foramen of Monro. [Medline]. In addition, everolimus has been shown to significantly reduce seizure frequency, with 28.2% of patients receiving low exposure/low dosage demonstrating 50% or greater decrease in seizures, and 40% of patients receiving high exposure/high dosage demonstrating 50% or greater decrease in seizures. Cancer Res. 2019 Dec 6-10. 6(9):e23379. netspot-gallium-ga-68-dotatate-1000115 Louis DN, Scheithauer BW, Budka H. Meningiomas. Arch Dis Child. 1995 Jan-Feb. 17(1):52-6. Tuberous sclerosis is a group of two genetic disorders that cause non-malignant tumors to affect the skin, brain/nervous system, kidneys, and heart. Surgical management and seizure outcome in patients with tuberous sclerosis. 2010 Nov 4. 2006 Oct. 49(5):317-20. [Medline]. Association of tuberous sclerosis of temporal lobes with autism and atypical autism. The children are now grown up and of normal intelligence, including the young lady at left who is cushingoid from therapy with adrenocorticotropic hormone for infantile spasms. These observations raise the possibility of new therapeutic interventions for this disorder. Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Frost M, Belousova E, et al. [Medline]. Authors and Disclosures. mTOR, a major effector of cell growth (as opposed to cell proliferation) functions, among other things, as a sort of master switch for cellular anabolism versus catabolism, and it has important regulatory functions for cell volume and protein synthesis. David Neal Franz, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, Ohio State Medical Association, Children's Oncology Group, American Academy of Pediatrics, Child Neurology SocietyDisclosure: Nothing to disclose. 1998 Dec. 5(4):253-68. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Franz, DN, Leonard, J, Tudor, C. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. 6(9):e23379. After a period of intensive supportive care and inotropic therapy, she now has essentially normal cardiac function and is on no medications. 2001 Jan. 68(1):64-80. Neurological and dermatological abnormalities are the most common physical findings, since brain and skin pathology occurs in as many as 90–95% of affected individuals. [Medline]. This suggests that, while tuberin and hamartin have similar functions, tuberin plays a more critical role in regulation of cellular differentiation. Clinical Case, You are being redirected to 2013;49:243-254. When present in the lumbar region they have been called a "shagreen patch." Koprowski C, Rorke LB. Four types of lesions can occur: autosomal dominant polycystic kidney disease, isolated renal cyst(s), AMLs, and renal cell carcinoma. [Medline]. [Medline]. TSC affects cellular degeneration, proliferation, and migration and results in hamartomatous lesions in virtually all organs during early development—most commonly the brain, skin, eyes, heart, kidneys, and lungs. Kandt RS, Haines JL, Smith M, et al. George I Jallo, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, American Society of Pediatric NeurosurgeonsDisclosure: Nothing to disclose. They are rarely if ever symptomatic. 1999 Mar. Autism and the cerebellum: evidence from tuberous sclerosis. Hamartomatous rectal polyps: Histologic confirmation is suggested. [Medline]. Tubers are noted most commonly in the cerebrum, without clear predilection for any particular lobe. Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. Novartis Found Symp. Semin Pediatr Neurol. 2002 Jul. The child whose CT scan is shown presented with medically intractable epilepsy thought to be due to partial hemimegalencephaly. Beltramello A, Puppini G, Bricolo A, et al. Topiramate. The underlying tissue may be hypertrophic/hamartomatous. Tuberous sclerosis complex and the ketogenic diet. [Medline]. Franz DN. 2005 Jan. 57(1):67-75. 2013. It, in turn, is regulated by multiple factors, including insulin, amino acids, the drugs rapamycin and its congeners (eg, RAD001), and the TSC gene products via the GTPase-activating protein Rheb. 349(9049):392-5. Dysplastic arterial vessels are demonstrated. However, gingival fibroma(s) in association with large numbers (>10) of dental pits is highly suggestive of TSC and should prompt further diagnostic evaluation. Ventricular rhabdomyomas may diffusely infiltrate the myocardium, as in this patient with tuberous sclerosis. Pulmonary disease occurs predominantly in women in the third and fourth decades of life. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Sampson JR, Attwood D, al Mughery AS, Reid JS. This sign has led to interest in counting dental pits as an inexpensive bedside screening procedure. The number, size, and location of tubers can vary widely from patient to patient. 1995 Jan. 16(1):149-55. 68(3):367-70. 99(1-2):180-2. Kreuger DA, Care MM, Holland K, et al. Tuberous sclerosis complex and the ketogenic diet. J Vasc Surg. Cardiac involvement occurs during the intrauterine or neonatal period. Bruni O, Cortesi F, Giannotti F, Curatolo P. Sleep disorders in tuberous sclerosis: a polysomnographic study. These lesions can involve the cardiac conducting system and thereby may predispose an affected individual to ventricular pre-excitation or other arrhythmias not only in infancy, but also later in life. [Medline]. Mak BC, Yeung RS. Osseous lesions rarely if ever produce serious difficulty, and they require only symptomatic treatment, if any at all. Dev Med Child Neurol. Minim Invasive Neurosurg. The overlying skin may have an orange hue. Epilepsia. Spinal cord lesions in tuberous sclerosis. 1983 Oct-Dec. 1(4):474-80. It also occurs, although less frequently, in women who do not have TSC (incidence of sporadic LAM, approximately 1 per 100,000). AJNR Am J Neuroradiol. The tumour growth is developed due to genetic abnormality affects the cellular proliferation, differentiation and delay development. [Full Text]. Goodman M, Lamm SH, Engel A, et al. This child has a smaller number of tubers than the patient shown in the previous image, but the tubers are larger in size. [Medline]. gallium-ga-68-dotatoc-40000 [Medline]. The tuberous sclerosis complex genes in tumor development. 2012 Mar. [Medline]. Pediatr Neurol. About 20% of tubers may show changes in imaging characteristics over time, requiring close imaging follow-up. Nat Genet. Tuberous sclerosis is a rare disease that causes tumors, or growths, in the brain and other organs. Arch Dermatol. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. 7(6):1053-7. Owing to the overwhelming predominance of LAM in women, some believe that estrogen accelerates the progression of the condition. It expanded in size, affecting adjacent structures across the midline and resulting in calcifications still evident in the right frontal region. Fibromas may occur in other locations. Exactly when intervention is warranted is somewhat controversial. Isolated gingival fibromas can occur in persons who do not have TSC. Gradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilation. 2001 Jul. Tuberous sclerosis complex is a rare genetic disease that causes benign tumors to grow in the brain and other parts of the body, such as the eyes, heart, kidneys, lungs, and skin. Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, Shields WD. Atrial rhabdomyoma as seen on cardiac CT scan in a patient with tuberous sclerosis. Diagnosis The signs and symptoms of Tuberous Sclerosis Complex, and how it is diagnosed The age, time and background of a Tuberous Sclerosis Complex (TSC) diagnosis can vary dramatically between everyone living with the condition. True failure of penetrance of the TSC genes is believed to be rare. 10(3):148-51. Functional intervening renal parenchyma is preserved. Hyman MH, Whittemore VH. 2011. AJNR Am J Neuroradiol. [Medline]. Sclerotic and hypertrophic lesions of bone may be found incidentally on radiography performed for other indications. Tuberous sclerosis. Henske EP, Wessner LL, Golden J, et al. Renal manifestations of TSC are the second most common clinical feature. [Medline]. J Neurosurg. She too has normal intelligence and is seizure free on medication. As many as 40% of women with tuberous sclerosis have pulmonary cysts on chest CT scan. [Medline]. These cells frequently have abnormalities of either TSC1 or TSC2, which produce the characteristic smooth muscle hypertrophy and destruction of normal lung. Share cases and questions with Physicians on Medscape consult. [Medline]. Factors that hamper accurate assessment of incidence and prevalence include under-recognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma. Epilepsia. Other tests used in the assessment of patients with TSC include the following: Electroencephalography: Should be performed in patients with TSC in whom seizures are suspected; follow-up electroencephalography is performed as clinically indicated, Electrocardiography: Baseline electrocardiography is recommended for all patients newly diagnosed with TSC, since cardiac arrhythmias, although rare, may have sudden death as their presenting symptom. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis. All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. They identified mental handicap retrospectively in relatively broad terms: developmental quotient less than 70, inability to attend regular school without supplementary assistance, institutionalization, requiring assistance with daily activities, etc. 2000:176-84. The following 3 imaging studies are usually undertaken in patients with TSC: Computed tomography scanning or magnetic resonance imaging of the brain: Performed to identify SEGAs before obstructive hydrocephalus occurs; they also identify the extent and number of cortical tubers present Krueger DA, Care MM, Holland K, et al. 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