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Anesthetic Management of Two Patients With PHARC Syndrome: Case Report
Marta Correia Silva1, Ana Bernardino, Ana Luísa Vieira
1From the Serviço de Anestesiologia, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
Abstract:
PHARC 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.
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