Liu JianFeng, Jia Jie, Hao TingTing, Ding Jing
Department of Psychiatry, Xi'an Mental Health Center, Xi'an, P.R. China.
Department of Medical Iconography, Xi'an Mental Health Center, Xi'an, P.R. China.
Neurocase. 2025 Aug;31(4):181-187. doi: 10.1080/13554794.2025.2522642. Epub 2025 Jun 23.
Fahr's disease (FD) is a rare neurological disorder that causes abnormal, symmetrical, and bilateral calcification of the basal ganglia and other brain regions. Psychiatric symptoms are one of the many manifestations that guide FD diagnosis, with most usually occurring by ages 30-60 years. Herein, we report an incidental finding of bilateral basal ganglia calcification in a 14-year-old male teenager presenting psychotic characteristics, including schizophreniform and manic-like symptoms, who was initially investigated for mycoplasma infection. No similar study has been reported so far in the literature. Case report and literature review. Computed tomography (CT) revealed a calcification deposit in bilateral basal ganglia, thalamus, frontal cortex, and semioval center, magnetic resonance imaging detected a T1-weighted image and fluid-attenuated inversion recovery hyperintense signal abnormalities in the bilateral basal ganglia and thalami. Furthermore, the laboratory tests revealed no obvious abnormality except for hypocalcemia and low vitamin D levels with an elevated uric acid level. The gene test results confirmed the diagnosis of familial FD, which was caused by a mutation in the SLC20A2 gene (NM_001257180.2:c.551delC/p.Pro184Glnfs *8). The patient was prescribed oral medication, including olanzapine, sodium valproate extended-release tablets, lorazepam, and vitamin D drops. Additionally, individualized administration with therapeutic drug monitoring was recommended for the patient to enable dose adjustments. The patient experienced no new psychotic symptoms within the 6-month follow-up after discharge. Bilateral basal ganglia calcification may be a contributing factor to the sudden onset of psychiatric symptoms in children and adolescents.
Fahr病(FD)是一种罕见的神经系统疾病,可导致基底神经节和其他脑区出现异常、对称且双侧的钙化。精神症状是指导FD诊断的众多表现之一,大多在30至60岁时出现。在此,我们报告一例14岁男性青少年的双侧基底神经节钙化偶然发现,该患者表现出精神病性特征,包括精神分裂症样和躁狂样症状,最初因支原体感染接受检查。迄今为止,文献中尚未报道过类似研究。病例报告及文献综述。计算机断层扫描(CT)显示双侧基底神经节、丘脑、额叶皮质和半卵圆中心有钙化沉积,磁共振成像检测到双侧基底神经节和丘脑的T1加权图像及液体衰减反转恢复高信号异常。此外,实验室检查除低钙血症、低维生素D水平及尿酸水平升高外无明显异常。基因检测结果证实为家族性FD诊断,由SLC20A2基因(NM_001257180.2:c.551delC/p.Pro184Glnfs *8)突变引起。给患者开了口服药物,包括奥氮平、丙戊酸钠缓释片、劳拉西泮和维生素D滴剂。此外,建议对患者进行个体化给药并进行治疗药物监测以调整剂量。出院后6个月随访期间患者未出现新的精神病性症状。双侧基底神经节钙化可能是儿童和青少年精神症状突然发作的一个促成因素。