title: Arachnoid cysts in tuberous sclerosis complex.
abstract: OBJECTIVE
  Some clinical findings in tuberous sclerosis complex (TSC), such as hypomelanotic macules or angiofibromas are related to problems in development of the neural crest, which is also the origin of cranial leptomeninges. Arachnoid cysts have been reported in two TSC patients to date. The purpose of this study was to assess the prevalence and characteristics of arachnoid cysts in a large cohort of TSC.
  
  
  METHODS
  We performed a review of brain MRIs of 220 TSC patients searching for arachnoid cysts.
  
  
  RESULTS
  Arachnoid cysts were found in 12 (5.5%) (general population: 0.5%), including ten males (83.3%). Four patients (33.3%) had also autosomal dominant polycystic kidney disease (ADPKD) due to a contiguous deletion of the TSC2-PKD1 genes. Three patients (25%) had two or more arachnoid cysts, of whom two also had ADPKD. One patient with an arachnoid cyst did not have tubers, subependymal nodules or white matter migration lines.
  
  
  CONCLUSIONS
  Our study suggests that arachnoid cysts are part of the clinical spectrum of TSC and may be also present in TSC patients without other typical TSC brain lesions.
authors: Department of Neurology, Massachusetts General Hospital, Boston, USA; Department of Pediatric Neurology, Vall d' Hebron Hospital, Universitat Autònoma de Barcelona, Spain.
authors: Susana
authors: S
authors: Boronat
authors: Department of Neuroradiology, Massachusetts General Hospital, Boston, USA.
authors: Paul
authors: P
authors: Caruso
authors: Department of Neurology, Massachusetts General Hospital, Boston, USA.
authors: Maria
authors: M
authors: Auladell
authors: Department of Neurology, Massachusetts General Hospital, Boston, USA.
authors: Agnies
authors: A
authors: Van Eeghen
authors: Department of Neurology, Massachusetts General Hospital, Boston, USA. Electronic address: ethiele@partners.org.
authors: Elizabeth Anne
authors: EA
authors: Thiele
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016080:Arachnoid Cysts / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D050396:TRPP Cation Channels / Q000235:genetics; D014402:Tuberous Sclerosis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human
keywords: Arachnoid cyst; Meninges; Neural crest; Tuberous sclerosis complex (TSC)