Background: Arachnoid cysts are intra-arachnoid fluid collections covered by a thin membrane that may developthroughout the cerebrospinal axis. Although the precise causative mechanism is unknown, arachnoid cyst (AC) arenow generally accepted to be developmental anomalies of arachnoid. These lesions have commonly been describedin the literature; however the presence of familial arachnoid cysts is quite rare. Most genetically related AC have beendocumented in patients with a known genetic syndrome. The current case report describes a family with four membersaffected by an arachnoid cyst in the same region.Methods: In addition to reviewing the current case, a literature search was conducted using National Library ofMedicine and National Institutes of Health databases to identify articles pertaining to familial Arachnoid cysts. Overall,32 published articles fit the established review criteriaResults: We describe a family whose members (father and three siblings) present an arachnoid cyst in the sameregion (the left middle cranial fossa). The general physical findings in the four members were normal and no clinicalsuggestion of a genetic syndrome. None of the members had an increased head size or abnormal cutaneous findings.Histories of prenatal and perinatal periods were unremarkable. All were born normally at term and none had any historyof intrauterine exposure to infection, drugs, teratogens or trauma. Karyotyping failed to reveal abnormalities.Conclusion: This report extends previous observations that AC can be familial and supports the hypothesis thatsome cases have a genetic aetiology. The lack of chromosomal or genetic studies in these patients supports the needfor additional research into the mechanism of AC formation.
|Numero di pagine||0|
|Rivista||JOURNAL OF NEUROLOGICAL DISORDERS|
|Stato di pubblicazione||Published - 2015|