Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy

Cerebral arachnoid cysts that occur in more than one member of a family have been rarely reported. These familial cases are important because they imply a genetic component in the pathophysiology of these arachnoid cysts. We present an unusual family in which two conditions, a genetic myopathy, oculopharyngeal muscular dystrophy (OPMD), and arachnoid cysts occur together. OPMD is caused by a mutation in the PAPB2 gene that localizes to chromosome 14. In this family, two siblings with genetically confirmed OPMD both have left hemispheric intracranial arachnoid cysts unassociated with other cerebral abnormalities. The association of these two disorders suggests that in this family, a chromosome 14 gene may play a role in the development of arachnoid cysts.