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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.
A&A Practice
|November 25, 2024
Summary
PHARC syndrome, a rare genetic disorder, presents challenges in diagnosis and anesthesia. This study details the anesthetic management for two siblings with PHARC syndrome undergoing cochlear implantation.
Area of Science:
- Genetics and Neurology
- Ophthalmology
- Otolaryngology
Background:
- PHARC syndrome is a rare autosomal recessive disorder characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts.
- Genetic mutations in the ABHD12 gene cause PHARC syndrome.
- The condition is often misdiagnosed due to its rarity and overlap with other neurodegenerative diseases.
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