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Familial arachnoid cysts: a review of 35 families

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Abstract

Introduction

Arachnoid cysts are commonly considered congenital lesions, but this has not been proven. With the development of neuroimaging and DNA testing technology, more cases of familial arachnoid cysts have been reported. Herein, we review such cases.

Materials and methods

The PubMed, Embase, and Web of Science databases were searched for case reports of arachnoid cysts published through April 2018. Case reports were included only if two or more related patients were diagnosed with an arachnoid cyst by neuroimaging or intraoperatively. For each report, the following data were extracted: first author name, date of publication, number of families, number of patients, location of the arachnoid cysts, patient age, patient sex, and genetic mutations and associated disease.

Results

Our searches identified 33 case reports involving 35 families and 115 patients. The locations of arachnoid cysts were similar in 25 of the 35 families. Spinal extradural arachnoid cysts were reported most often, followed by arachnoid cysts in the middle fossa and posterior fossa. A left-sided predominance was noticed for arachnoid cysts of the middle fossa. Mutation of the FOXC2 gene was reported most often, and arachnoid cysts may be associated with mutations on chromosome 16.

Conclusions

Although the origin of arachnoid cysts is believed to have a genetic component by some researchers, the genes associated with arachnoid cysts remain unknown. Unfortunately, the evidence remains insufficient.

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Author notes

  1. Xiaowei Qin and Yubo Wang contributed equally to this work.

Authors and Affiliations

  1. Department of Neurosurgery, First Hospital of Jilin University, 71, Xinmin Street, Changchun, 130021, Jilin, People’s Republic of China

    Xiaowei Qin, Yubo Wang, Songbai Xu & Xinyu Hong

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Qin, X., Wang, Y., Xu, S. et al. Familial arachnoid cysts: a review of 35 families. Childs Nerv Syst 35, 607–612 (2019). https://doi.org/10.1007/s00381-019-04060-z

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