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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
PubMed
Summary
This summary is machine-generated.

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.

Keywords:
Arachnoid cystMeningesNeural crestTuberous sclerosis complex (TSC)

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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.