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法尔综合征中的急性神经功能衰退:一例罕见病例提示病毒感染可能是潜在诱因。

Acute neurological decline in Fahr's syndrome: a rare case suggesting viral illness as a potential trigger.

作者信息

Khan Muhammad Nawaz, Tahir Iman Muhammad, Malik Manal Arshad, Jafri Ahsan Ali, Sinaan Ali Syed Muhammad, Haque Md Ariful

机构信息

Liaquat National Hospital & Medical College, Karachi, Pakistan.

Voice of Doctors Research School, Dhaka, Bangladesh.

出版信息

Ann Med Surg (Lond). 2025 May 20;87(7):4632-4635. doi: 10.1097/MS9.0000000000003416. eCollection 2025 Jul.

Abstract

INTRODUCTION AND IMPORTANCE

Fahr's syndrome is a rare neurodegenerative disorder characterized by bilateral intracranial calcifications, primarily affecting the basal ganglia, thalamus, and cerebellum. It presents with a wide range of neurological and psychiatric symptoms, often mimicking more common conditions.

CASE PRESENTATION

We report the case of a 45-year-old South Asian male with no known comorbidities who presented with acute fever, altered consciousness, and generalized tonic-clonic seizures. Initial management targeted a suspected central nervous system infection, but neuroimaging revealed bilateral basal ganglia calcifications.

CLINICAL DISCUSSION

Extensive metabolic and infectious workups were unremarkable, leading to a diagnosis of Fahr's syndrome through multidisciplinary evaluation. Genetic testing was not performed due to financial constraints. The patient showed significant improvement with empirical anticonvulsant therapy and supportive care and was advised outpatient follow-up.

CONCLUSION

This case emphasizes the importance of considering Fahr's syndrome in patients presenting with unexplained neurological symptoms, particularly in resource-limited settings where access to genetic testing is restricted. Early recognition through neuroimaging is crucial to avoid misdiagnosis and ensure appropriate management. Increased awareness among clinicians is necessary for timely intervention and improved patient outcomes.

摘要

引言与重要性

法尔氏综合征是一种罕见的神经退行性疾病,其特征为双侧颅内钙化,主要累及基底神经节、丘脑和小脑。它表现出广泛的神经和精神症状,常与更常见的疾病相似。

病例报告

我们报告一例45岁的南亚男性病例,他没有已知的合并症,出现急性发热、意识改变和全身强直阵挛性发作。初始治疗针对疑似中枢神经系统感染,但神经影像学检查显示双侧基底神经节钙化。

临床讨论

广泛的代谢和感染检查均无异常,通过多学科评估诊断为法尔氏综合征。由于经济限制未进行基因检测。患者经经验性抗惊厥治疗和支持性护理后有显著改善,并被建议门诊随访。

结论

该病例强调了在出现不明原因神经症状的患者中考虑法尔氏综合征的重要性,特别是在基因检测受限的资源有限环境中。通过神经影像学早期识别对于避免误诊和确保适当管理至关重要。临床医生提高认识对于及时干预和改善患者预后是必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df03/12369794/44b3dcee3fea/ms9-87-4632-g001.jpg

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