Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference (original) (raw)
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Pediatric Neurology, 2013
BACKGROUND-Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices. METHODS-The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly. RESULTS-The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established.
Pediatric Neurology, 2021
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results: Only two changes were made to clinical diagnostic criteria reported in 2013: "multiple cortical tubers and/or radial migration lines" replaced the more general term "cortical dysplasias," and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSCassociated neuropsychiatric disorders, and new medication approvals. Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families.
Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management
Wiener klinische Wochenschrift, 2015
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder, characterized by predominantly benign tumors in potentially all organ systems. System involvement, severity of clinical symptoms and the response to treatment are age-dependent and heterogeneous. Consequently, the disorder is still not recognized in a considerable number of patients. The diagnostic criteria and the guidelines for surveillance and management of patients with TSC were revised, and the establishment of specialized TSC-centers was strongly recommended during an International Consensus Conference in 2012. TOSCA (TuberOus SClerosis registry to increase disease Awareness), an international patient registry, was started to allow new insights into the causes of different courses. Finally, there are-since the approval of the mTOR inhibitor Everolimus-promising new therapeutic approaches.This review focuses on the various TSC related symptoms occurring at different ages, the novel recommendations for diag...
Tuberous Sclerosis Complex – a Multidisciplinary Conundrum: Case Reports
Medicina Moderna - Modern Medicine, 2020
Introduction: Tuberous sclerosis complex (TSC) is a genetic disorder with a heterogenous clinical phenotype, with possible involvement of virtually any organ. Although recent advancement in genetics has allowed a better understanding of the pathophysiology of TSC, enabling a genetic diagnosis, TSC is primarily diagnosed on clinical grounds. Neurological manifestations amount to over 90% of people with TSC. Ensuing surveillance and treatment of TSC imply a multidisciplinary team of specialists. Case reports: We report 2 cases of TSC, both admitted to our Neurology Department on account of poor seizure control. One was diagnosed early in his infancy having a typical onset with infantile spasms and subsequent generalised seizures whereas the other was diagnosed with TSC in our department, at 56 years of age. They both also have skin and renal involvement as major clinical features. Conclusion: Recognition of the clinical hallmarks of TSC, albeit variable, is important for early diagnosis and subsequent multidisciplinary management. Neurological involvement, as illustrated in our case reports, is frequent and is largely responsible for morbidity and mortality in TSC.
Iranian journal of child neurology, 2012
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. Based on the diagnostic criteria, totally 81 tuberous sclerosis patients with sufficient data were enrolled into the study. These children were referred by child neurologists. The mean age of the patients was 52 months (range, 7-180 months). There were 28 girls and 53 boys. A positive familial history of TSC was seen in 29.6% of the patients. Hypo pigmented macules were the most common manifestation (82.7%). Facial angiofibroma, shagreen patches, café-au-lait lesions and seizure were observed in 32.1%, 12.3%, 7.4%. and 74.1% of the studied cases, respectively. Infantile spasm was present in the clinical course of 32.1 % of the patients. Cortical tubers were ...
Clinical and Para clinical Manifestations of Tuberous_Sclerosis.pdf
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic.
Tuberous sclerosis complex; single center experience
Turk Pediatri Arsivi
This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observ...
A delayed diagnosis of tuberous sclerosis
European Journal of Internal Medicine, 2013
Tuberous sclerosis (also referred to as Tuberous Sclerosis Complex) is an autosomal dominant neurocutaneous syndrome that can involve multiple organs such as the brain, heart, kidney, lung, liver, skin and eye. The diagnosis is clinical and most patients are identified during childhood, in the context of a severe epileptic or neuropsychiatric disorder. Here we report a case of TSC diagnosed in an adult woman with dermatological and vascular involvement that were only recognized as manifestations of TSC after the diagnosis of her infant daughter. This case highlights how important it is that physicians recognize the full spectrum of manifestations of TSC, including the most unusual, so not to miss the diagnosis.
Tuberous sclerosis: a case report
Journal of …, 2004
INTRODUCTION Tuberous sclerosis (TS) also called tuberous sclerosis complex (TSC) is a dominant auto-somal disease with an incidence of 1 in 20,000 to 30,000 individuals.1 It is related to alterations in 9 and 16 chromosomes.2 In TS, the classic triad consists of seizures, mental deficiency ...
Journal of child neurology, 2004
Dr Roach reviewed the criteria for clinical and genetic diagnosis of tuberous sclerosis complex. In his presentation, he outlined the associated clinical features of the disease. Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder with a prevalence of 1 in 6000 to 9000 people. Although a positive family history of tuberous sclerosis complex is frequently observed, spontaneous genetic mutations are common (65-75% of cases). Genetic studies have resulted in the identification of two genes implicated in the disease: TSC1 and TSC2. Definite tuberous sclerosis complex, as defined by the 1998 consensus conference sponsored by the Tuberous Sclerosis Alliance and the National Institutes of Health (NIH), is diagnosed when at least two major or one major plus two minor features are present. Probable tuberous sclerosis complex includes one major and one minor feature. Possible tuberous sclerosis complex includes one major or two or more minor features. Major features include skin manifestations (ie, facial angiofibromas, ungual fibroma, more than three hypomelanotic macules, and shagreen patch), brain and eye lesions (ie, cortical tuber, subependymal nodules, subependymal giant cell astrocytomas, multiple retinal nodular hamartomas), and tumors in other organs (ie, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma). Minor features include multiple randomly distributed pits in dental enamel, rectal polyps, bone cysts, cerebral white-matter migration abnormalities on brain imaging, gingival fibromas, nonrenal hamartomas, retinal achromic patches, confetti skin lesions, and multiple renal cysts. The 1998 criteria do not include symptoms such as seizures or mental retardation to avoid "double counting" (ie, central nervous system lesions cause seizures, and including both in the Discussion