Familial intracranial arachnoid cysts

Abstract

Three siblings with intracranial arachnoid cysts are described, two males and one female. One of the males has symmetric, bilateral, temporoparietal convexity cysts, and the others have singular, unilateral cysts. Three additional siblings in the family and other known relatives are clinically unaffected. As far as we know, this is the second reported case of familial intracranial arachnoid cysts and the first involving three siblings. The significance of these cysts and a review of the literature are presented.

Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters

“…The parents were nonconsanguineous. Pomeranz et al [1991] described three sibs, two males and one female, with intracranial arachnoid cysts. Two of them presented with a rapidly increasing head size.…”

“…There have been few reports of familial recurrence of arachnoid cysts [Handa et al, 1981;Pomeranz et al, 1991;Wilson et al, 1988].…”

Location, sidedness, and sex distribution of intracranial arachnoid cysts in a population-based sample

“…59 Cysts in the temporal fossa have been reported to have a familial occurrence, in some cases co-occurring with other genetically determined diseases. 30,42,44,61 Arachnoid cysts have also been reported to co-occur with other diseases linked to genetic aberrations, such as autosomal dominant polycystic kidney disease. 2,57,88 The sex-independent but location-dependent sidedness, the familial occurrence, and the linkage with other genetically determined diseases support the hypothesis of an underlying genetic mechanism in the development of at least some of these cysts.…”

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

“…Rare pedigrees consistent with autosomal recessive and autosomal dominant inheritance have been demonstrated, but the cysts are most commonly sporadic (Handa et al, 1981;Pomeranz et al, 1991;Arriola et al, 2005). It has been hypothesized that the cysts result from abnormal folding of the neural tube early in the fetal development (Jadeja and Grewal, 2002).…”