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Arachnoid cysts in tuberous sclerosis complex.
Susana Boronat1, Paul Caruso2, Maria Auladell3
1Department of Neurology, Massachusetts General Hospital, Boston, USA; Department of Pediatric Neurology, Vall d' Hebron Hospital, Universitat Autònoma de Barcelona, Spain.
Brain & Development
|December 12, 2013
Summary
Arachnoid cysts are more common in tuberous sclerosis complex (TSC) patients than in the general population. These cysts can occur even without other typical brain lesions in TSC.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Tuberous sclerosis complex (TSC) involves genetic mutations affecting cell growth.
- Neural crest development issues in TSC may relate to cranial leptomeninges.
- Arachnoid cysts are rare in TSC, with only two prior reports.
Purpose of the Study:
- To determine the prevalence and characteristics of arachnoid cysts in a large cohort of TSC patients.
- To investigate the association between arachnoid cysts and other TSC manifestations.
Main Methods:
- Retrospective review of brain MRIs from 220 patients diagnosed with TSC.
- Systematic search for the presence and features of arachnoid cysts.
Main Results:
- Arachnoid cysts were identified in 5.5% of TSC patients, significantly higher than the general population (0.5%).
- Males represented 83.3% of affected individuals.
- 33.3% of patients with arachnoid cysts also had autosomal dominant polycystic kidney disease (ADPKD) due to TSC2-PKD1 gene deletions.
- One patient presented with an arachnoid cyst but lacked other common TSC brain abnormalities.
Conclusions:
- Arachnoid cysts appear to be a potential clinical manifestation within the spectrum of TSC.
- The presence of arachnoid cysts in TSC patients may not always correlate with other hallmark brain lesions.
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