Choroid plexus hyperplasia and hydrocephalus in a primary ciliary dyskinesia-related mutation

Takeaway

  • There is a high incidence of hydrocephalus, choroid plexus hyperplasia (CPH) linked to cerebrospinal fluid overproduction and arachnoid cysts in children with mutation of the multiciliate differentiation and DNA synthesis associated cell cycle protein (MCIDAS)-associated reduced generation of multiple motile cilia (RGMC), despite the absence of neurological sequelae.

Why this matters

  • Primary ciliary dyskinesia (PCD) is a rare, heterogenous group of disorders characterized by abnormal motile ciliary function. Reduced generation of multiple motile cilia is a severe PCD phenotype linked to mutations in specific genes including MCIDAS.

  • The novel finding of CPH linked to CSF overproduction ties in with the more established finding of hydrocephalus and adds credence to postulated mechanisms of the involvement of MCIDAS and other proteins in the pathogenesis of PCD. A deeper understanding of the mechanisms underlying this group of disorders may have a significant impact on early treatment protocols and patient outcomes.