Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP

Source: BMC Medical Genomics - November 6, 2023 Category: Genetics & Stem Cells Authors: Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz and Vamshi K. Rao Tags: Case report Source Type: research