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

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.

scholarly journals Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex

2017 ◽  
Vol 4 ◽  
pp. 2329048X1772560 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Multidisciplinary Approach ◽  
Clinical Manifestations ◽  
The Body ◽  
Subependymal Giant Cell Astrocytoma ◽  
Associated Conditions ◽  
Ongoing Surveillance ◽  
Giant Cell Astrocytoma

Objective: Tuberous sclerosis complex is expressed throughout the body, resulting in a range of clinical manifestations that can be challenging to manage. Results: The authors report a patient who presented at age 3.5 years with several suspected seizures and was diagnosed with tuberous sclerosis complex following the discovery of numerous bilateral cortical tubers and subependymal nodules on magnetic resonance imaging. Interdisciplinary, comprehensive care was recommended; this included ongoing surveillance to monitor for the development of tuberous sclerosis complex–associated conditions. Approximately 2 years later, the patient began exhibiting aggressive and self-injurious behavior, and a subependymal giant cell astrocytoma was discovered. After everolimus was initiated, he demonstrated less aggression, had ceased self-injurious behavior, and subependymal giant cell astrocytoma growth stabilized. Conclusions: This case highlights the importance of a multidisciplinary approach to care in tuberous sclerosis complex, which ensures the early detection and appropriate treatment of clinical manifestations that may arise during the course of the patient’s life.

Predictors of Efficacy in Patients with Adjunctive Everolimus Therapy for Treatment-Resistant Seizures Associated with Tuberous Sclerosis Complex

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
G. Wiegand ◽  
T. Polster ◽  
C. Hertzberg ◽  
A. Wiemer-Kruel ◽  
J. French ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Treatment Resistant

Everolimus Reduces Seizure Frequency in Tuberous Sclerosis Complex

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
T. Stapper ◽  
D. Valcheva ◽  
T. Höll ◽  
T. Rosenbaum
Keyword(s):  
Tuberous Sclerosis ◽  
Seizure Frequency ◽  
Tuberous Sclerosis Complex

Good seizure outcome after epilepsy surgery in young children with tuberous sclerosis complex

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
C Krahn-Peper ◽  
IEB Tuxhorn ◽  
K Ahlbory ◽  
F Behne ◽  
H Pannek
Keyword(s):  
Young Children ◽  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Tuberous Sclerosis Complex ◽  
Seizure Outcome

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

The lungs in tuberous sclerosis complex: a case report

2007 ◽  
Vol 56 (2) ◽  
Author(s):  
NC Iheonunekwu ◽  
TM Ibrahim ◽  
BD Crosdale ◽  
RH Gangappa
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex
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