scholarly journals P.058 Tuberous sclerosis complex associated intracranial abnormalities identified in utero via antenatal ultrasound

2019 ◽  
Vol 46 (s1) ◽  
pp. S29
Author(s):  
IE Hanes ◽  
N Abdeen ◽  
K Muir ◽  
E Sell
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Retrospective Review ◽  
In Utero ◽  
Benign Tumors ◽  
Brain Abnormalities ◽  
Antenatal Ultrasound ◽  
Brain Ultrasound ◽  
The Right ◽  
Cognitive Problems

Background: Tuberous sclerosis complex (TSC) is characterized by growth of benign tumors in the skin, brain, kidneys, lung and heart. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures and cognitive problems. Epilepsy is highly associated with the cognitive abnormalities in TSC and recent evidence suggests anti-epileptic treatment before onset of seizures reduces epilepsy severity and risk of mental retardation. Screening and potential identification of TSC in utero via ultrasound would allow for prophylactic seizure management in these children. The sensitivity of antenatal ultrasound in the identification of brain abnormalities associated with TSC has not yet been published. In this case, we review the antenatal ultrasounds of a child with TSC for evidence of brain abnormalities in utero. Methods: Retrospective review Results: Retrospective review of antenatal ultrasounds showed some evidence of intracranial abnormalities. Ultrasound at 34 weeks and 4 days gestation revealed an echogenic density in the right ventricle that correlates with SEGA on post-natal MRI brain at 12 days of life. Post-natal brain ultrasound at 37 weeks revealed multiple cranial abnormalities not seen in utero. Conclusions: There are limitations to antenatal neurosonography in the detection of intracranial abnormalities associated with TSC.

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.

Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex

2009 ◽  
Vol 4 (1) ◽  
pp. 85-90 ◽  
Author(s):  
Robert J. Bollo ◽  
Jonathan L. Berliner ◽  
Ingeborg Fischer ◽  
Daniel K. Miles ◽  
Elizabeth A. Thiele ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Rapid Growth ◽  
Neonatal Period ◽  
Cell Tumor ◽  
Giant Cell Tumors ◽  
Neurological Morbidity ◽  
Cortical Tubers ◽  
The Right

Subependymal giant cell tumors (SGCTs) are observed in 5–20% of patients with tuberous sclerosis complex (TSC) but account for ~ 25% of neurological morbidity. The authors report the case of a 7-year-old girl with TSC and multiple cortical tubers who presented with worsening seizures in the context of the rapid growth of a cystic, calcified, extraventricular SGCT in the right frontal lobe, initially thought to represent a cortical tuber. The tumor and surrounding tubers were excised, and clinical seizures resolved. This is the first report of an extraventricular SGCT in a child with TSC outside the neonatal period.

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.

scholarly journals A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Valérie Mongrain ◽  
Nicolaas H. van Doesburg ◽  
Françoise Rypens ◽  
Catherine Fallet-Bianco ◽  
Justine Maassen ◽  
...  
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
In Utero ◽  
Tsc2 Gene

Tuberous Sclerosis Complex

2017 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti ◽  
Rebecca McClellan ◽  
Michael V. Johnston
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Scientific Discovery ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Behavioral Difficulties ◽  
Future Directions ◽  
Neurocutaneous Disorder ◽  
The Status ◽  
The Brain

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Case Report on: Tuberous Sclerosis

2021 ◽  
pp. 140-147
Author(s):  
Ruchira Ankar ◽  
Archana Dhengare ◽  
Arti Raut ◽  
Seema Singh ◽  
Samruddhi Gujar
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Hereditary Disease ◽  
Chief Complaint ◽  
Benign Tumors ◽  
Surrounding Area ◽  
Benign Tumours ◽  
Intellectual Incapacity ◽  
The Brain

Introduction: Tuberous sclerosis is a rare hereditary disease that creates noncancerous tumours in the brain, kidneys, heart, liver, eyes, lungs, and skin. Seizures, intellectual incapacity, developmental delays, and behavioral issues are just a few of the warning symptoms. Like Skin problems, and lung and kidney problems. A hereditary mutation in one of two genes causes TSC.TSC1 and TSC2 are two distinct TSC types. The proteins hemartin and tuberin, which act as tumour suppressors and govern cell proliferation and differentiation, are produced by these genes. [1]. Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects 1 in every 6,000 to 1 in every 18,000 people. It's a life-threatening condition caused by the formation of benign tumors/lesions in several organs. Tumors can affect organ growth and/or function and are frequent in the brain, heart, skin, kidneys, and lungs. The number of organs affected, as well as the size of tumours inside each organ, varies greatly. As a result, the disease's symptoms are extremely variable and unexpected [2]. Case Presentation: A 35-year old female admitted to AVBRH on date 25/11/2021 with the chief complaint of fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days.   History of Present Illness: Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic disease that causes non-cancerous (benign) tumours in the brain, skin, kidneys, heart, eyes, and lungs. A 35-yearold female admitted to hospital on date 25/11/2020 with the chief complaint was fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 4month. Interventions: The patient was treated the patient was started on Injection- Ceftriaxone, 1gm - Intravenous – BD- Antibiotic, Injection- Pan, 40mg – Intravenous- BD – Antacid, Injection- Livipril, 100mg – Intravenous- BD- Anticonvulsant, Injection- Paracetamol, 150mg – Intra muscular- SOS- Antipyretic. Conclusion: During hospital stay with the chief complaint of patient are fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days. Her situation was critical, therefore she was brought to AVBR Hospital and treatment was started right away.

scholarly journals Dissecting the Roles of the Tuberin Protein in the Subcellular Localization of the G2/M Cyclin, Cyclin B1

2021 ◽  
Author(s):  
Jessica Dare-Shih ◽  
Adam Pillon ◽  
Jackie Fong ◽  
Elizabeth Fidalgo da Silva ◽  
Lisa Porter
Keyword(s):  
Cell Cycle ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Molecular Mechanisms ◽  
Cyclin B1 ◽  
Nuclear Accumulation ◽  
Benign Tumors ◽  
Tsc2 Gene ◽  
Organ Systems ◽  
Wide Range

Tuberin is a major component of the protein regulatory complex known as the Tuberous Sclerosis Complex and plays a crucial role in cell cycle progression and protein synthesis. Mutations in the Tuberin gene, TSC2, lead to the formation of benign tumors in many organ systems and causes the Tuberous Sclerosis Complex disorder. Genotypes ranging from point mutations to large deletions in the TSC2 gene have been clinically characterized with a wide range of phenotypes from skin tumors to large brain tumors. Our current work investigates the molecular mechanisms behind Tuberin and its ability to regulate the cell cycle through its binding to the G2/M cyclin, Cyclin B1. After creating an early stop codon in a critical region of the Tuberin, our results show the in vitro phenotype that occurs from a truncated Tuberin protein. Herein we demonstrate that this clinically relevant truncated form of Tuberin promotes an increased nuclear accumulation of Cyclin B1 and a subsequent increase in cell proliferation supporting the phenotypic data seen in the clinic with Tuberous Sclerosis Complex patients showing deletions within the TSC2 gene. This data provides an insight into some of the functional and molecular consequences of truncated proteins that are seen in clinical patients.

scholarly journals Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature

2020 ◽  
Vol 23 (2) ◽  
pp. 93-98
Author(s):  
I Rambabova Bushljetik ◽  
M Lazareska ◽  
I Barbov ◽  
O Stankov ◽  
V Filipce ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Common Adverse Effect ◽  
Mtor Inhibitors ◽  
Febrile Episode ◽  
Benign Tumors ◽  
Subependymal Giant Cell Astrocytoma ◽  
Total Size ◽  
Giant Cell Astrocytoma

Abstract Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.

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