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Research Letter
October 10, 2017

Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst

Author Affiliations
  • 1Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
  • 2Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
  • 3Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut
  • 4Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland
JAMA Neurol. Published online October 10, 2017. doi:10.1001/jamaneurol.2017.3399

Arachnoid cysts (ACs) are congenital fluid-filled malformations that account for approximately 1% of all intracranial, space-occupying lesions in the central nervous system.1 Despite an estimated prevalence of 1.4%, little is known about the pathogenesis of these presumed developmental anomalies of the arachnoid.2 The coincidence of ACs in known mendelian cystic disorders, such as autosomal dominant polycystic kidney disease,3 along with rare clinical reports of familial AC occurrence,4,5 suggests a genetic basis for the disorder. However, no gene or chromosomal abnormalities have been detected in familial intracranial AC. We present a familial form of isolated intracranial AC showing an X-linked dominant inheritance pattern and characterized by the presence of large, bilateral, and symmetric middle fossa ACs (Figure 1) in 4 family members of a nuclear kindred (Figure 2).

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