两名 PHARC 综合征患者的麻醉管理：病例报告。

IF 0.5 Q4 ANESTHESIOLOGY A&A practice Pub Date : 2024-11-25 eCollection Date: 2024-11-01 DOI:10.1213/XAA.0000000000001872

Marta Correia Silva, Ana Bernardino, Ana Luísa Vieira

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引用次数: 0

摘要

PHARC 综合征（多发性神经病、听力损失、共济失调、视网膜色素变性和白内障）是一种罕见的常染色体隐性遗传病，由 ABHD12 基因突变引起。人们对这种综合征的了解还不多，而且容易与其他神经退行性疾病混淆，因此容易误诊，尤其是在早期阶段。我们首次介绍了两个患有 PHARC 综合征的兄弟姐妹接受单侧人工耳蜗植入术的麻醉管理情况。

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Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.

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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来源期刊

A&A practice Medicine-Medicine (all)

CiteScore

1.40

自引率

0.00%

发文量

126