scholarly journals The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Claudia Ioana Borțea ◽  
Vlad Laurentiu David ◽  
Florina Stoica ◽  
Cezara Mureșan ◽  
Marioara Boia
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Fetal Mri ◽  
Accurate Diagnosis ◽  
Prenatal Period ◽  
Minor Criteria ◽  
Phenotypical Variability

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis.

scholarly journals The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Michael Wong
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Glial Cells ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Main Body ◽  
Neurological Manifestations ◽  
Molecular Abnormalities ◽  
Different Types

Abstract Background Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric symptoms, collectively referred to as TSC-associated neuropsychiatric disorders (TAND). Various tumors and hamartomas affecting different organs are the pathological hallmarks of the disease, especially cortical tubers of the brain, but specific cellular and molecular abnormalities, such as involving the mechanistic target of rapamycin (mTOR) pathway, have been identified that also cause or contribute to neurological manifestations of TSC independent of gross structural lesions. In particular, while neurons are immediate mediators of neurological symptoms, different types of glial cells have been increasingly recognized to play important roles in the phenotypes of TSC. Main body This review summarizes the literature supporting glial dysfunction from both mouse models and clinical studies of TSC. In particular, evidence for the role of astrocytes, microglia, and oligodendrocytes in the pathophysiology of epilepsy and TAND in TSC is analyzed. Therapeutic implications of targeting glia cells in developing novel treatments for the neurological manifestations of TSC are also considered. Conclusions Different types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.

scholarly journals The diverse manifestations of tuberous sclerosis complex: the experience of a provincial TSC clinic

2015 ◽  
Vol 42 (S1) ◽  
pp. S14-S14
Author(s):  
C Wilbur ◽  
C Sanguansermsri ◽  
H Chable ◽  
A Mihaela ◽  
MB Connolly
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Multidisciplinary Care ◽  
Care Needs ◽  
History Of ◽  
Study Population

Background: Recent consensus recommendations for Tuberous Sclerosis Complex (TSC) stress the importance of multidisciplinary follow-up for these patients. The objective of our study was to review the manifestations of TSC seen in our hospital to determine the care needs of this population. Methods: This was a systematic, retrospective chart review of children with TSC treated at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: The study population comprised 81 patients, born between 1987-2014, who were a median 10 (Range 0.2-23.2) years of age at last follow-up. 88% of patients had epilepsy, including 30% with a history of infantile spasms. Developmental delay was reported in 65%, while 40% had intellectual disability. Psychiatric co-morbidities occurred in 49%. The most common psychiatric diagnoses were autism (25%), ADHD (19%), and anxiety (16%). Cardiac rhabdomyomas occurred in 35% of patients and renal angiomyolipomas in 42%, while only 4% had polycystic kidneys. Subependymal giant cell astrocytomas were observed in 14% of patients. 86% had skin manifestations. Conclusions: This study reaffirms the multi-system manifestations of TSC and the need to provide comprehensive, multidisciplinary care. As many children are still very young, the prevalence of autism and intellectual disability is likely underestimated.

scholarly journals Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

2018 ◽  
Vol 3 (2) ◽  
pp. 276-280 ◽  
Author(s):  
Charlotte Tye ◽  
Laura E. Thomas ◽  
Julian R. Sampson ◽  
Julia Lewis ◽  
Finbar O'Callaghan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Secular Changes ◽  
Epileptic Spasms

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.

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.

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 Long-term outcomes of resective epilepsy surgery after invasive presurgical evaluation in children with tuberous sclerosis complex and bilateral multiple lesions

2015 ◽  
Vol 15 (1) ◽  
pp. 26-33 ◽  
Author(s):  
Ravindra Arya ◽  
Jeffrey R. Tenney ◽  
Paul S. Horn ◽  
Hansel M. Greiner ◽  
Katherine D. Holland ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Tuberous Sclerosis Complex ◽  
Refractory Epilepsy ◽  
Full Scale ◽  
Secondary Outcome ◽  
Resective Surgery ◽  
Class 1 ◽  
Medically Refractory Epilepsy

OBJECT Tuberous sclerosis complex (TSC) with medically refractory epilepsy is characterized by multifocal brain abnormalities, traditionally indicating poor surgical candidacy. This single-center, retrospective study appraised seizurerelated, neuropsychological, and other outcomes of resective surgery in TSC patients with medically refractory epilepsy, and analyzed predictors for these outcomes. METHODS Patients with multilesional TSC who underwent epilepsy surgery between 2007 and 2012 were identified from an electronic database. All patients underwent multimodality noninvasive and subsequent invasive evaluation. Seizure outcomes were classified using the International League Against Epilepsy (ILAE) scale. The primary outcome measure was complete seizure remission (ILAE Class 1). Secondary outcome measures included 50% responder rate, change in full-scale IQ, electroencephalography improvement, and reduction in antiepileptic drug (AED) burden. RESULTS A total of 37 patients with TSC underwent resective surgery during the study period. After a mean follow-up of 5.68 ± 3.67 years, 56.8% achieved complete seizure freedom (ILAE Class 1) and 86.5% had ILAE Class 4 outcomes or better. The full-scale IQ on follow-up was significantly higher in patients with ILAE Class 1 outcome (66.70 ± 12.36) compared with those with ILAE Class 2 or worse outcomes (56.00 ± 1.41, p = 0.025). In 62.5% of the patients with ILAE Class 2 or worse outcomes, the number of AEDs were found to be significantly reduced (p = 0.004). CONCLUSIONS This study substantiates the evidence for efficacy of resective epilepsy surgery in patients with bilateral multilesional TSC. More than half of the patients were completely seizure free. Additionally, a high proportion achieved clinically meaningful reduction in seizure burden and the number of AEDs.

scholarly journals Epilepsy surgery in tuberous sclerosis complex: the BC Children’s Hospital experience

2015 ◽  
Vol 42 (S1) ◽  
pp. S14-S14
Author(s):  
C Wilbur ◽  
C Sanguansermsri ◽  
H Chable ◽  
A Mihaela ◽  
P Steinbok ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Tuberous Sclerosis Complex ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Seizure Outcome ◽  
Corpus Callosotomy ◽  
Age At Surgery ◽  
Second Resection

Background: Epilepsy occurs in up to 90% of patients with Tuberous Sclerosis Complex (TSC) and is often refractory to medications. Our objective was to assess the safety and outcome of epilepsy surgery in children with TSC at our institution. Methods: We performed a systematic, retrospective chart review of children with TSC who underwent epilepsy surgery at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: 19 patients (out of 81 with TSC) underwent surgery between 1995-2014. Median age at surgery was 4.2 (Range 1.1-15.6) years, with patients having failed a median 4 (Range 0-10) anti-seizure medications. Surgery comprised corpus callosotomy in 2 and resection of one or more tubers in 17. 2 patients had a subsequent second resection. Minor neurologic deficits occurred after 14% of surgeries. Median follow-up was 2.4 years (Range 0.3 -13.8 years) following surgery . At last follow-up, 47% were seizure free, including 2 patients off anti-seizure medication. Conclusions: Epilepsy surgery is safe and effective in carefully selected TSC patients, with the majority having a good seizure outcome. Children with epilepsy secondary to TSC should be referred for epilepsy surgery assessment.

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