scholarly journals The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110128
Author(s):  
Daad Alsowat ◽  
Robyn Whitney ◽  
Stacy Hewson ◽  
Puneet Jain ◽  
Valerie Chan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Retrospective Review ◽  
Early Onset ◽  
Disease Surveillance ◽  
Infantile Spasms ◽  
Phenotypic Spectrum ◽  
Systemic Manifestations ◽  
Sick Children

Objective: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype. Methods: A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype. Results: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations. Conclusions: This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.

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

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.

Infantile spasms in tuberous sclerosis complex

2001 ◽  
Vol 23 (7) ◽  
pp. 502-507 ◽  
Author(s):  
Paolo Curatolo ◽  
Stefano Seri ◽  
Magda Verdecchia ◽  
Roberta Bombardieri
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Infantile Spasms

scholarly journals High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex

2018 ◽  
Vol 148 ◽  
pp. 1-7 ◽  
Author(s):  
Shaun A. Hussain ◽  
Ernst Schmid ◽  
Jurriaan M. Peters ◽  
Monisha Goyal ◽  
E. Martina Bebin ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Lower Risk ◽  
Infantile Spasms

Vigabatrin as First-Line Treatment for Infantile Spasms Not Related to Tuberous Sclerosis Complex

2015 ◽  
Vol 53 (2) ◽  
pp. 141-145 ◽  
Author(s):  
Kevin Jones ◽  
Cristina Go ◽  
Jennifer Boyd ◽  
Ayako Ochi ◽  
Blathnaid McCoy ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Infantile Spasms ◽  
Line Treatment ◽  
First Line ◽  
First Line Treatment

scholarly journals Infantile spasms in tuberous sclerosis complex: Prognostic utility of EEG

Epilepsia ◽  
2009 ◽  
Vol 50 (2) ◽  
pp. 290-296 ◽  
Author(s):  
David A. Muzykewicz ◽  
Daniel J. Costello ◽  
Elkan F. Halpern ◽  
Elizabeth A. Thiele
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Infantile Spasms ◽  
Prognostic Utility

Vigabatrin in the Treatment of Infantile Spasms

US Neurology ◽  
2010 ◽  
Vol 05 (02) ◽  
pp. 82
Author(s):  
Susana E Camposano ◽  
Elizabeth A Thiele ◽  
◽  
Keyword(s):  
Risk Factors ◽  
Effective Treatment ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Side Effect ◽  
Visual Fields ◽  
Retinal Toxicity ◽  
Infantile Spasms ◽  
Duration Of Treatment ◽  
Drug Of Choice

Vigabatrin (VGB) is an effective treatment of infantile spasms (IS) that controls spasms of all etiologies in about 50% of patients when used asmonotherapy. In tuberous sclerosis complex, VGB controls spasms in up to 95% of patients and should be used as the drug of choice. HigherVGB doses correlate with shorter times to response and higher response rates. Its most serious side effect is retinal toxicity characterized byirreversible bilateral concentric constriction of the visual fields (BCCVF). Maximum VGB dose, total VGB dose, and duration of VGB treatmentconstitute risk factors for BCCVF. In each particular patient, dose and duration of treatment should be kept at a minimum, while ensuringeffectiveness and preventing relapse. Every effort should be made to evaluate retinal function, even though it may require specializedophthalmological services. The addition of this new US Food and Drug Administration (FDA)-approved drug as an alternative in the treatmentof IS represents a major contribution to an armamentarium that contains only one other treatment.

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