• Yubo Wang, Jiayue Cui, Xiaowei Qin, and Xinyu Hong.
• Department of Neurosurgery, First Hospital of Jilin University.
• Medicine (Baltimore). 2018 Dec 1; 97 (50): e13665.

RationaleArachnoid cysts are relatively common intracranial space-occupying lesions; nevertheless, familial intracranial arachnoid cysts are extremely rare, with only a few cases having been reported.Patient ConcernsThe proband was a 7-year-old girl who had experienced generalized tonic-clonic seizures 5 times in the 8 days prior to admission. Nine months later, her 6-year-old younger female cousin presented to us with a 3-day history of headache.DiagnosesBrain magnetic resonance imaging (MRI) confirmed the diagnosis of arachnoid cyst for both of the girls.InterventionsA cyst-peritoneal shunting and cyst fenestration were performed for the 7-year-old girl and her cousin separately. Sanger sequencing revealed a heterozygous missense mutation (c.2576C > T) in the Arginine-Glutamic Acid Dipeptide Repeats gene (RERE).OutcomesThe outcome was favorable and the follow-up was uneventful.LessonsWe hypothesize that the mutation in RERE may be associated with the pathogenesis of familial intracranial arachnoid cysts.

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