Familial Arachnoid 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).…”

“…Arachnoid cysts have infrequently been associated with neurological syndromes such as spastic paraplegia caused by mutations in the SPG4 gene (Orlacchio et al, 2004) and oculopharyngeal muscular dystrophy caused by repeat expansions of the PABP2 gene (Jadeja and Grewal, 2002). In one family, an association was found between arachnoid cysts and a deletion in the pericentromeric heterochromatin of the long arm of chromosome 16 (Arriola et al, 2005). The cause and the genetic contribution to the etiology of the majority of cysts are, however, unknown.…”

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

“…None of the affected patients in these families had arachnoid cysts, though we did not exclude the possibility of atypical presentations. Arriola et al 2005 recently described two families with familial arachnoid cysts due to a deletion in 16q. In both of these families there were affected individuals in consecutive generations, making autosomal recessive inheritance highly unlikely.…”

“…While fairly common, AC's are benign lesions and most remain asymptomatic [Gosalakkal, 2002]. Most AC's occur sporadically; however, there have been reports of familial occurrence [Handa et al, 1981; Jadeja and Grewal, 2003; Sinha and Brown, 2004; Arriola et al, 2005].…”

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

“…As a relatively common incidental finding on computed tomography (CT) scans of the brain, AC's occur predominantly in the middle cranial fossa [Barkovich, 2005]. They comprise approximately 1–2% of all intracranial space‐occupying lesions [Galarza et al, 2002; Gosalakkal, 2002; Jadeja and Grewal, 2003; Sinha and Brown, 2004; Arriola et al, 2005]. The prevalance of familial AC was reported to be 1/200 [Jadeja and Grewal, 2003].…”