PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

IF 2.7 3区医学 Q3 NEUROSCIENCES

Cerebellum Pub Date : 2025-06-19 DOI:10.1007/s12311-025-01860-9

Sergio Roberto Pereira da Silva, Renata Montes Garcia Barbosa, Patricia Pontes Cruz, Lunielle da Cruz Caldeira, Daniel de Queiroz Omote, João Cláudio da Costa Urbano, Matheus Augusto Araújo Castro, Jacy Bezerra Parmera, Fernando Magri, Fernando Kok, Fernando Freua

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引用次数: 0

Abstract

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare condition caused by mutations in ABHD12. We present the first documented case of PHARC in a Brazilian patient. Describe the clinical and genetic aspects of patients diagnosed with PHARC through a literature review. A literature review was conducted in February 2024 using Pubmed/Medline database. We also report a 37-year-old Brazilian woman diagnosed with PHARC. Between 38 patients diagnosed with this condition, the majority were male (74.35%) and the median age was 35.7 years. The most common symptom reported was ataxia (79.4%). The main finding of Brain MRI was cerebellar atrophy, and demyelinating polyneuropathy was the commonest finding in electroneuromyography, both were found in 28.2% of patients. PHARC syndrome is a rare autosomal recessive condition that is increasingly reported in the literature. Refsum disease and Usher syndrome are the main differential diagnosis. A multidisciplinary approach and follow-up are crucial for accurate diagnosis and treatment.

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PHARC（多发性神经病变，听力损失，共济失调，视网膜色素变性和白内障）- 1例报告和临床重点文献综述。

多发性神经病变、听力损失、共济失调、视网膜色素变性和白内障（PHARC）是由ABHD12突变引起的罕见疾病。我们提出了第一个记录的病例PHARC在巴西患者。通过文献综述描述PHARC患者的临床和遗传学方面。于2024年2月使用Pubmed/Medline数据库进行文献综述。我们也报告一位37岁的巴西女性被诊断为PHARC。在38例诊断为此病的患者中，大多数为男性（74.35%），中位年龄为35.7岁。最常见的症状是共济失调（79.4%）。脑MRI主要表现为小脑萎缩，神经肌电图最常见的表现为脱髓鞘性多神经病变，28.2%的患者出现这两种症状。PHARC综合征是一种罕见的常染色体隐性遗传病，越来越多的文献报道。Refsum病和Usher综合征是主要的鉴别诊断。多学科方法和随访对准确诊断和治疗至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cerebellum 医学-神经科学

CiteScore

6.40

自引率

14.30%

发文量

150

审稿时长

4-8 weeks

期刊介绍： Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction. The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging. The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.