Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex

2020 ◽  
Vol 58 (1) ◽  
pp. 25-31
Author(s):  
Pierre Pfirmann ◽  
Jerome Aupy ◽  
Eva Jambon ◽  
Laetitia Idier ◽  
Mathilde Prezelin-Reydit ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multidisciplinary Approach ◽  
Genetic Disorder ◽  
Multidisciplinary Care ◽  
Adult Patients ◽  
Bone Lesions ◽  
Interdisciplinary Management ◽  
Cutaneous Lesions ◽  
High Level

BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.ObjectivesOur study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model.MethodsData on each adult patient diagnosed with TSC, including disease manifestations, interventions and outcomes, were collected at baseline and updated annually. A multidisciplinary TSC approach with all the recommended explorations was carried out annually.Results90 patients were enrolled in Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27–47) and 20 years old at diagnosis of TSC. Regarding the occurrence of TSC manifestations, 97% of the patients had cutaneous lesions, 89% had neurological manifestations, 83% had renal manifestations and 100% had dental lesions with pits. More than half the patients had sclerotic bone lesions (68%), TSC-associated neuropsychiatric disorders (64%) and lymphangioleiomyomatosis (59%). A TSC multidisciplinary approach was developed including a global follow-up and an evaluation of TSC targeting organs, according to the recommendations. A satisfaction survey revealed global and entire satisfaction of patients with TSC.ConclusionWe obtained an accurate description of a cohort of adult patients with TSC. Our multidisciplinary approach model allowed us to provide optimal management of patients with TSC with a high level of patient satisfaction.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

2019 ◽  
Vol 30 (4) ◽  
pp. 2199-2214
Author(s):  
Benoit Scherrer ◽  
Anna K Prohl ◽  
Maxime Taquet ◽  
Kush Kapur ◽  
Jurriaan M Peters ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Face Processing ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Autism Spectrum ◽  
The Body ◽  
Fusiform Gyrus ◽  
Benign Tumors ◽  
Anatomical Connectivity

Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.

Tuberous sclerosis complex renal disease

2015 ◽  
Author(s):  
Bradley P. Dixon ◽  
J. Christopher Kingswood ◽  
John J. Bissler
Keyword(s):  
Renal Failure ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Mammalian Target Of Rapamycin ◽  
Cystic Disease ◽  
Pulmonary Lymphangioleiomyomatosis ◽  
Brain Involvement ◽  
Almost All

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from larger lesions. Manifestations of brain involvement substantially complicate management of many patients with TSC. The causative genes TSC1 and TSC2 encode tuberin and hamartin which are involved in control of the mammalian target of rapamycin pathway. Inhibitors of that pathway, such as sirolimus and everolimus, are therefore logical approaches to therapy and have been shown to be effective in reducing angiomyolipomata volume. It remains to be seen whether they can protect renal function.

Fetal Echocardiographic Detection of Cardiac Tumors: A Case Report of Multiple Fetal Cardiac Rhabdomyomas

2019 ◽  
Vol 35 (5) ◽  
pp. 426-430
Author(s):  
Bailey Sarff ◽  
Randall Floyd ◽  
Amy Bildner ◽  
Janell Stormo ◽  
Kelsy Fisher
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cardiac Tumor ◽  
Genetic Disorder ◽  
Cardiac Tumors ◽  
Size Number

Cardiac rhabdomyomas are the most common fetal cardiac tumor. They can be detected in the second and third trimesters. Rhabdomyomas are most commonly associated with the genetic disorder tuberous sclerosis complex. When associated with tuberous sclerosis complex, cardiac rhabdomyomas usually regress within the first few years of life, without complications. Symptoms depend on the size, number, and location of the rhabdomyomas. A case report of multiple cardiac rhabdomyomas that was found at 35 weeks’ gestation and is discussed.

scholarly journals CT of Sclerotic Bone Lesions: Imaging Features Differentiating Tuberous Sclerosis Complex with Lymphangioleiomyomatosis from Sporadic Lymphangioleiomymatosis

Radiology ◽  
2010 ◽  
Vol 254 (3) ◽  
pp. 851-857 ◽  
Author(s):  
Nilo A. Avila ◽  
Andrew J. Dwyer ◽  
Antoinette Rabel ◽  
Thomas Darling ◽  
Chien-Hui Hong ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Bone Lesions ◽  
Imaging Features ◽  
Sclerotic Bone ◽  
Sclerotic Bone Lesions

scholarly journals Incidental case finding of a 19‐year‐old woman with Tuberous Sclerosis Complex: A step‐wise Multidisciplinary approach

2021 ◽  
Vol 9 (10) ◽  
Author(s):  
Sajjad Ali ◽  
Samahir Tariq Khan ◽  
Hamza Usman ◽  
Ali Hamza Khan ◽  
Zain Douba ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multidisciplinary Approach ◽  
Case Finding

scholarly journals Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Susanne Brakemeier ◽  
Lars Vogt ◽  
Lisa C. Adams ◽  
Bianca Zukunft ◽  
Gerd Diederichs ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Imaging Biomarker ◽  
Bone Lesions ◽  
Sclerotic Bone ◽  
Sclerotic Bone Lesions

scholarly journals Tuberous sclerosis with cardiac rhabdomyoma: a case report

2017 ◽  
Vol 4 (2) ◽  
pp. 666
Author(s):  
Sunita Arora ◽  
Harnoorjit Kaur Brar ◽  
Prabhjot Kaur Dhillon
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Female Child ◽  
The Body ◽  
Cardiac Rhabdomyoma ◽  
Cardiac Evaluation ◽  
Benign Tumours ◽  
High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

scholarly journals Enhancing Disease Awareness for Tuberous Sclerosis Complex in Patients with Radiologic Diagnosis of Renal Angiomyolipoma: An Observational Study

2020 ◽  
Author(s):  
Kathrin Bausch ◽  
Christian Wetterauer ◽  
Julian Diethelm ◽  
Jan Ebbing ◽  
Daniel T. Boll ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Binary Logistic Regression ◽  
Binary Logistic Regression Analysis ◽  
Renal Angiomyolipoma ◽  
Radiologic Diagnosis ◽  
Disease Awareness ◽  
Younger Age ◽  
Age Range

Abstract BackgroundTuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70-80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC.MethodsAll patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC. ResultsComplete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p<0.01). 37 (7%) of the 521 patients were within the age-range of 18-40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p<0.05), and 2 (33.3%) of which with a single, unilateral AML (p<0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p<0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2–344.0; p=0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01–0.88; p=0.04)) to be a risk factor for TSC. ConclusionsThe presence of bilateral AML in patients within the age-range of 18-40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.

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