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表现为伴有躁狂特征的精神病的双侧基底节钙化:法尔氏综合征病例报告

Bilateral Basal Ganglia Calcifications Manifesting as Psychosis With Manic Features: A Case Report on Fahr's Syndrome.

作者信息

Dennis Aa'Mani C, Nwabueze Christian, Banu Fahima, Nisenoff Carolina D, Olupona Tolu

机构信息

Psychiatry, Interfaith Medical Center, Brooklyn, USA.

出版信息

Cureus. 2023 Feb 2;15(2):e34547. doi: 10.7759/cureus.34547. eCollection 2023 Feb.

Abstract

Fahr's syndrome is a rare neurodegenerative disorder characterized by symmetric bilateral calcifications in the basal ganglia. While this is largely a hereditary disease with autosomal dominant inheritance, a small percentage is sporadic in nature with no metabolic or other underlying causes identified. Fahr's syndrome has both neurological and psychiatric manifestations that include movement abnormalities, seizures, psychosis, and depression. Approximately 40% of patients with basal ganglia calcification present with psychiatric symptoms including mania, apathy, or psychosis. We present a case of a 50-year-old woman with no previous medical or psychiatric history who presented with an altered mental status that progressed to psychosis over three years. On one admission, the patient was found to have elevated liver enzymes and a positive antinuclear antibody panel but was without electrolyte abnormalities or movement disturbances. The patient was subsequently diagnosed with unspecified psychosis in the emergency department, which was later revised to Fahr's syndrome confirmed by neuroimaging. This report discusses her presentation, clinical symptoms, and management of Fahr's syndrome. Above all, it underscores the importance of complete workup and adequate follow-up of middle-aged and elderly patients with cognitive and behavioral disturbances, as Fahr's syndrome can be elusive in the early stages.

摘要

法尔综合征是一种罕见的神经退行性疾病,其特征为基底神经节出现对称性双侧钙化。虽然这主要是一种常染色体显性遗传的遗传性疾病,但一小部分本质上是散发性的,未发现代谢或其他潜在病因。法尔综合征具有神经和精神方面的表现,包括运动异常、癫痫发作、精神病和抑郁症。约40%的基底神经节钙化患者会出现包括躁狂、冷漠或精神病在内的精神症状。我们报告一例50岁女性病例,该患者既往无内科或精神病史,出现精神状态改变,在三年时间里逐渐发展为精神病。在一次入院时,发现该患者肝酶升高且抗核抗体检查呈阳性,但无电解质异常或运动障碍。该患者随后在急诊科被诊断为未特定的精神病,后来经神经影像学检查确诊为法尔综合征。本报告讨论了她的临床表现、临床症状及法尔综合征的治疗。最重要的是,它强调了对有认知和行为障碍的中老年患者进行全面检查和充分随访的重要性,因为法尔综合征在早期可能难以诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c0/9985407/608d63dab38e/cureus-0015-00000034547-i01.jpg

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