Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex

2012 ◽  
Vol 16 (1) ◽  
pp. 83-85 ◽  
Author(s):  
Marta Perek-Polnik ◽  
Sergiusz Jóźwiak ◽  
Elżbieta Jurkiewicz ◽  
Danuta Perek ◽  
Katarzyna Kotulska
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Intractable Epilepsy ◽  
Subependymal Giant Cell Astrocytoma ◽  
Life Threatening ◽  
Giant Cell Astrocytoma

scholarly journals Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

2019 ◽  
Vol 10 ◽  
Author(s):  
Anna C. Jansen ◽  
Elena Belousova ◽  
Mirjana P. Benedik ◽  
Tom Carter ◽  
Vincent Cottin ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Clinical Characteristics ◽  
Subependymal Giant Cell Astrocytoma ◽  
Giant Cell Astrocytoma

Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex

2014 ◽  
Vol 30 (9) ◽  
pp. 1192-1195 ◽  
Author(s):  
Shinobu Fukumura ◽  
Toshihide Watanabe ◽  
Rumiko Takayama ◽  
Kimio Minagawa ◽  
Hiroyuki Tsutsumi
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Subependymal Giant Cell Astrocytoma ◽  
Giant Cell Astrocytoma

scholarly journals Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report

2015 ◽  
Vol 16 (2) ◽  
pp. 134-137 ◽  
Author(s):  
Thomas L. Beaumont ◽  
Jakub Godzik ◽  
Sonika Dahiya ◽  
Matthew D. Smyth
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Left Ventricular ◽  
Complex Case ◽  
Subependymal Giant Cell Astrocytoma ◽  
Clinical Approach ◽  
Foramen Of Monro ◽  
Giant Cell Astrocytoma

The authors report the case of a 14-year-old male with a subependymal giant cell astrocytoma (SEGA) that occurred in the absence of tuberous sclerosis complex (TSC). The patient presented with progressive headache and the sudden onset of nausea and vomiting. Neuroimaging revealed an enhancing left ventricular mass located in the region of the foramen of Monro with significant mass effect and midline shift. The lesion had radiographic characteristics of SEGA; however, the diagnosis remained unclear given the absence of clinical features of TSC. The patient underwent gross-total resection of the tumor with resolution of his symptoms. Although tumor histology was consistent with SEGA, genetic analysis of both germline and tumor DNA revealed no TSC1/2 mutations. Similarly, a comprehensive clinical evaluation failed to reveal any clinical features characteristic of TSC. Few cases of SEGA without clinical or genetic evidence of TSC have been reported. The histogenesis, genetics, and clinical approach to this rare lesion are briefly reviewed.

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