The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

2018 ◽  
Vol 29 (3) ◽  
pp. 295-301 ◽  
Author(s):  
Denise L. Chan ◽  
Tessa Calder ◽  
John A. Lawson ◽  
David Mowat ◽  
Sean E. Kennedy
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Growth Patterns ◽  
Imaging Characteristics ◽  
Life Threatening ◽  
History Of ◽  
Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

Natural history of incidental sporadic or tuberous sclerosis complex associated lymphangioleiomyomatosis

2019 ◽  
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

scholarly journals LINC-17. SIROLIMUS AS AN ALTERNATIVE TO SURGICAL RESECTION OF PEDIATRIC TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED BILATERAL SUBEPENDYMAL GIANT CELL ASTROCYTOMAS: AN AFFORDABLE OPTION FOR PATIENTS FROM LOW-MIDDLE INCOME COUNTRIES

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii381-iii381
Author(s):  
Patricia Orduña
Keyword(s):  
Intracranial Pressure ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Surgical Resection ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Middle Income ◽  
Continuous Growth ◽  
Middle Income Countries ◽  
Low Middle Income Countries

Abstract Subependymal giant cell astrocytomas (SEGA) may lead to significant neurological morbidity in children diagnosed with tuberous sclerosis complex (TSC). Surgical resection is warranted for SEGAs demonstrating continuous growth, causing hydrocephalus and increased intracranial pressure. mTOR inhibitors (sirolimus and everolimus) are alternatives to surgery and have shown efficacy in stabilizing and shrinking SEGAs. Everolimus showed stronger evidence in efficacy, but its cost poses a limitation for this treatment among patients from low-middle income countries. We explored sirolimus as a potentially more cost-effective alternative in our setting. We present a 10-year-old Filipino child with TSC admitted due to headache, vomiting, and increased sleeping time. Neuroimaging revealed large bilateral SEGAs involving the frontal horns and foramina of Monro, causing moderate obstructive hydrocephalus. Surgical excision was offered, but parents opted for medical treatment. Bilateral posterior parietal ventriculoperitoneal shunts were inserted to decrease intracranial pressure. Due to the cost of everolimus, the patient was started on sirolimus at 1mg/m2/day. Imaging done 6 months after initiating therapy demonstrated significant decrease in size of both SEGAs (right: 82.5%, left: 64.1%). Sirolimus levels were maintained at 15.7ng/ml and minimal elevations on cholesterol and triglyceride levels were observed and treated with simvastatin. Results of this case and review of related data suggest that sirolimus can be used as a conservative approach in inducing regression of large bilateral SEGAs, and an affordable alternative to everolimus for pediatric TSC patients from low-middle income countries. Prospective studies and clinical trials are needed to further establish its efficacy, safety and cost-effectiveness in our setting.

scholarly journals The natural history of epilepsy in tuberous sclerosis complex

Epilepsia ◽  
2009 ◽  
Vol 51 (7) ◽  
pp. 1236-1241 ◽  
Author(s):  
Catherine J. Chu-Shore ◽  
Philippe Major ◽  
Susana Camposano ◽  
David Muzykewicz ◽  
Elizabeth A. Thiele
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of ◽  
History Of Epilepsy

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis

2020 ◽  
Vol 168 ◽  
pp. 105993
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of
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