Rationale: Arachnoid 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 concerns: The 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. Diagnoses: Brain magnetic resonance imaging (MRI) confirmed the diagnosis of arachnoid cyst for both of the girls. Interventions: A 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). Outcomes: The outcome was favorable and the follow-up was uneventful. Lessons: We hypothesize that the mutation in RERE may be associated with the pathogenesis of familial intracranial arachnoid cysts.
[1]Jilin Univ, Hosp 1, Dept Neurosurg, 71 Xinmin St, Changchun 130021, Jilin, Peoples R China.
[2]Jilin Univ, Coll Basic Med Sci, Dept Histol & Embryol, Changchun, Jilin, Peoples R China.
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