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- Marta Correia Silva, Ana Bernardino, and Ana Luísa Vieira.
- From the Serviço de Anestesiologia, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
- A A Pract. 2024 Nov 1; 18 (11): e01872e01872.
AbstractPHARC 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.Copyright © 2024 International Anesthesia Research Society.
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