Perrault Syndrome (PRLTS): Types 1–6

Perrault syndrome was first described in 1951 in two consanguineous sisters as an autosomal recessive disease characterized by sensorineural hearing loss (SNHL) and ovarian dysgenesis (Perrault et al. 1951). Later on, with the report on two additional cases, the spectrum of the symptoms was extended to include both peripheral and central neurologic abnormalities (Fiumara et al. 2004; McCarthy et al. 1985). Since gonadal dysgenesis as a cardinal manifestation of the disease is only apparent in females, the disease is underrated in males and reports are limited to those who have an affected sister (Haddon and Lewis 1996; Linssen et al. 1994; Overk et al. 2014). Several genetic mutations are known to result in Perrault syndrome, indicating the presence of genetic heterogeneity for this disorder.