Carbone Manuel Glauco, Della Rocca Filippo
Department of Medicine and Surgery, Division of Psychiatry, University of Insubria, Viale Luigi Borri 57, 21100 Varese, Italy.
Pisa-School of Experimental and Clinical Psychiatry, University of Pisa, Via Roma 57, 56100, Pisa, Italy.
Clin Neuropsychiatry. 2022 Apr;19(2):121-131. doi: 10.36131/cnfioritieditore20220206.
Calcifications in basal ganglia could be an incidental finding up to 20% of asymptomatic patients undergoing computed tomography (CT) or magnetic resonance imaging (MRI) scan. The presence of neuropsychiatric symptomatology associated with basal ganglia calcifications identifies a clinical entity defined as Fahr's Disease. This term is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical picture underlying this condition have raised the question of the real existence of a syndrome. Several classifications based on the etiology, the location of brain calcifications and the clinical presentation have been proposed.
In the present study, we describe the case of a 52 years old man with a Bipolar I disorder diagnosis and a recent onset of behavioral disinhibition and alcohol misuse. The patient came to our center, specialized for bipolar disorder, as a consequence of a progressive worsening of the clinical picture associated to behavioral disturbances (sexual disinhibition, episodes of binge-eating, alcohol misuse), initial degrees of deterioration in cognitive function, peculiar psychotic symptoms and a resistance to various psychopharmacological treatment. The patient underwent neuro-psychologic evaluation, laboratory examinations and neuroimaging.
CT and MRI revealed basal ganglia calcification and, in presence of normal blood tests, a diagnosis of Fahr's syndrome was suggested. During the hospitalization, the patient showed a good clinical response to a psychopharmacological therapy constituted by two mood stabilizers (lithium carbonate and oxcarbazepine) and mild antipsychotics doses (quetiapine and aripiprazole). Finally, we performed a literature review on the complex and multifaceted neuropsychiatric clinical manifestations of Fahr's disease in order to provide useful elements in terms of etiology, clinical manifestation, diagnosis, and treatment.
在接受计算机断层扫描（CT）或磁共振成像（MRI）扫描的无症状患者中，基底节钙化可能是偶然发现，高达20%。与基底节钙化相关的神经精神症状的出现确定了一种被定义为 Fahr 病的临床实体。该术语用于存在特定原因继发的钙化情况，但这种疾病潜在的病因、发病机制和临床表现的变异性引发了关于是否真的存在一种综合征的问题。已经提出了几种基于病因、脑钙化位置和临床表现的分类方法。
在本研究中，我们描述了一名52岁男性的病例，他被诊断为双相I型障碍，最近出现行为抑制解除和酒精滥用。由于与行为障碍（性抑制解除、暴饮暴食发作、酒精滥用）相关的临床症状逐渐恶化、认知功能最初程度的下降、特殊的精神病症状以及对各种精神药物治疗的抵抗，该患者来到我们专门治疗双相情感障碍的中心。患者接受了神经心理学评估、实验室检查和神经影像学检查。
CT和MRI显示基底节钙化，在血液检查正常的情况下，提示诊断为 Fahr 综合征。住院期间，患者对由两种心境稳定剂（碳酸锂和奥卡西平）和小剂量抗精神病药物（喹硫平和阿立哌唑）组成的精神药物治疗表现出良好的临床反应。最后，我们对 Fahr 病复杂多面的神经精神临床表现进行了文献综述，以便在病因、临床表现、诊断和治疗方面提供有用的信息。
