DOI: 10.1213/xaa.0000000000001872 ISSN: 2575-3126
Anesthetic Management of Two Patients With PHARC Syndrome: Case Report
Marta Correia Silva, Ana Bernardino, Ana Luísa VieiraPHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a rare autosomal recessive disease, caused by genetic mutation of the ABHD12 gene. This syndrome is still not well known and can be misdiagnosed, especially in the early stages, as it can be easily confused with other neurodegenerative diseases. We present the first description of the anesthetic management of 2 siblings with PHARC syndrome who underwent unilateral cochlear implantation.