家族性特发性基底节钙化研究进展

两侧对称性大脑基底节钙化可由病理、生理多种原因造成,可伴有(无)神经病学和精神病学异常,是一种临床综合征。其中特发性两侧对称性基底节钙化由Fahr于1930年首次报道,故也称Fahr病。国内1983年由蒋雨平首次报道[1],目前头颅CT显示双侧基底节对称性钙化为本病重要诊断依据。Fahr病属罕见病,呈散发或家族性发病。本文就近年来家族性特发性基底节钙化研究进展进行综述。     

家族性特发性基底节钙化一家系报告

1病例报告 病例1：患者女，73岁。因“突发头痛、头晕5h，头CT提示蛛网膜下腔出血”入院。既往有原发性高血压病史近50年。神经系统查体：BP190／100mmHg，神清语利，记忆力、定向力、理解力完全。双侧瞳孔等大等圆，对光反射灵敏，眼动充分，视野无缺损，眼震（-）。伸舌示齿居中。颈软无抵抗感，凯尔尼格征、布鲁津斯基征均阴性。     

特发性基底节钙化症的临床分析

目的　探讨特发性基底节钙化症临床特点。方法　对 10例有完整资料的特发性基底节钙化症患者进行分析。结果　 ( 1) 10例病例均为散发 ,无 1例有家族史 ;( 2 )发病年龄跨度较大 ,最小 2 5岁 ,最大 73岁 ;( 3 )临床表现主要为锥体外系症状、癫、进行性痴呆等 ,亦可无临床表现 ,血清钙、磷均正常 ;( 4 )头颅CT主要表现为对称性双侧基底节钙化 ,MRI诊断阳性率不高。结论　头颅CT检查对本病诊断有重要意义 ,尤其对无症状者更有意义。     

8个家族性特发性基底节钙化家系患者的临床研究

目的探讨8个家族性特发性基底节钙化(familial idiopathic basal ganglia calcification,FIBGC)家系患者的临床特点。方法收集8个FIBGC家系患者的临床资料,分析患者的临床检验结果、头颅CT及MRI改变、发病年龄、临床表现与患者基底节钙化体积(the volume of basal ganglia calcification,VBGC)的关系。结果家系患者和健康成员血清钙、铝、砷、钴、镁、磷、铁、甲状旁腺激素和降钙素的值比较均无显著性差异(P0.05)。8个家系包括两个近亲结婚的家系均呈现常染色体显性遗传;运动受损患者的病情严重程度与基底节区钙化的病灶大小相关;精神症状的患者有无症状与VBGC的大小无关;运动受损与精神症状的患者间发表年龄(43.954±2.473 vs.31.319±10.156 y,t=4.438,P=0.001)和VBGC(1.748±0.622 vs.0.392±0.276 cm3,t=2.518,P=0.028)比较有统计学差异。结论 8个FIBGC家系患者呈现常染色体显性遗传的特点,运动受损的患者基底节区钙化的病灶大,发病年龄较晚;精神症状的患者基底节区钙化的病灶小,发病年龄较早。     

家族性基底节钙化2例临床报告

家族性基底节钙化(familial basal ganglia calcification)又称Fahr病，特发性家庭性脑血管亚铁钙沉着症，是一种以精神发育迟滞、锥体外系统损害、抽搐、锥体束征为主要表现的临床综合征，为一种较为罕见的疾病。现将我院诊断的同一家系Fahr病2例报道如下。     

特发性非家族性大脑基底节钙化的CT与临床

目的 探讨特发性非家族性大脑基底节钙化的临床类型和CT特点。方法 对107例经颅脑CT证实的大脑基底节钙化患者的临床表现与钙化分布特点进行分析。结果 钙化局限于双侧苍白球和脉络丛与松果体以内，临床多无症状和体征；钙化范围可扩大到脑叶或小脑等；且双侧不对称时，临床多表现为头痛、震颤、肢体活动受限、言语不清、痴呆等。结论 特发性非家族性基底节钙化可分为生理性和病理性。(1)生理性基底节钙化：为中、老年人，无任何临床症状的局限性苍白球为主的双侧基底节钙化，其临床意义相当于松果体和脉络丛钙化；(2)病理性基底节钙化：临床多表现有肢体震颤、痴呆的双侧大面积基底节钙化，并多伴有基底节区以外钙化，其临床意义相当于Fahr病的病理性钙化。     

特发性基底节钙化的临床分析

目的探讨特发性基底节钙化的临床特点与头部CT表现,防止漏诊及误诊。方法分析24例特发性基底节钙化的临床特点与头部CT的表现。结果(1)24例病例均为散发;(2)临床表现主要为癫癎发作、锥体外系症状、进行性痴呆、头昏、失眠等,亦可无临床表现,血清钙、磷均正常;(3)头颅CT主要表现为对称性双侧基底节钙化。结论特发性基底节钙化的临床表现无特异性。在排除其它可引起基底节钙化的相关疾病的基础上,头颅CT及实验室检查对本病诊断有重要意义,尤其对无症状者更有意义。     

双侧基底节肿瘤误诊为特发性基底节钙化附一例报告

本文报告一例经病理证实的双侧大脑基底节原发性生殖细胞瘤误诊为Fahr综合征的病例。 病历摘要 患者男性,9岁,18个月前感右手力弱,写字、持物不稳。病后两个月感右下肢无力并有语言减少,半年后右侧肢体无力明显加重,同时左侧肢体亦感无力,语言明显减少。7个月前病情加重,不能讲话。近2个月已不能行走而住院治疗。     

特发性基底节钙化症的临床分析

目的 探讨特发性基底节钙化症临床特点。方法 对10例有完整资料的特发性基底节钙化症患者进行分析。结果 (1)10例病例均为散发，无1例有家族史；(2)发病年龄跨度较大，最小25岁，最大73岁；(3)临床表现主要为锥体外系症状、癫痢、进行性痴呆等，亦可无临床表现，血清钙、磷均正常；(4)头颅CT主要表现为对称性双侧基底节钙化，MRI诊断阳性率不高。结论 头颅CT检查对本病诊断有重要意义，尤其对无症状者更有意义。     

Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification

We report a 67‐year‐old patient with idiopathic basal ganglia calcification (IBGC). He presented with progressive cognitive impairment, frontal lobe dysfunction, mild leg spasticity, and levodopa (L ‐dopa)‐responsive parkinsonism. Transcranial sonography (TCS) revealed marked hyperechogenicity of the basal ganglia and periventricular spaces bilaterally. The detected signal alterations showed a fairly symmetric distribution and corresponded to the hyperintense calcifications depicted on the computer tomography brain scan. The combination of symmetric hyperechogenic areas adjacent to the lateral ventricles and of the basal ganglia may serve as an imaging marker characteristic of IBGC. Hyperechogenicity due to extended basal ganglia calcification as presented here is distinct from the pattern of hyperechogenicity caused by heavy metal accumulation, which is described to be less striking. In addition to atypical parkinsonian syndromes such as progressive supranuclear palsy and multiple system atrophy, IBGC is thus another differential diagnosis of parkinsonism with basal ganglia hyperechogenicity. © 2010 Movement Disorder Society.     

Familial basal ganglia calcifications visualized by computerized tomography

Intracranial calcification can now be detected easily and precisely with the advent of computerized tomography. A familial case of striopallidal calcification with a rare hereditary pattern of autosomal dominancy is presented. None of the family members, aged from 8 to 62, displayed any neurological abnormality. All female family members had, bilaterally, short fourth metatarsais. Serum calcium and phosphorus values were not abnormal, although such physical findings are compatible with pseudohypoparathyroidism. The family tree suggested autosomal dominant heredity with a penetrance rate of 100%. Our survey revealed that no more than 10 cases of familial striopallidal calcification excluding ours have been reported to date. Only by utilizing CT was the hereditary pattern of our case determined accurately.     

Psychosis revealing familial idiopathic basal ganglia calcification

We describe the case of a 39-year-old woman presenting with auditory hallucinations and delusions responsive to antipsychotic drugs. Computerized tomography scans revealed basal ganglia calcifications in the proband and in her two asymptomatic parents. Extensive etiological clinicobiological assessment allowed us to exclude known causes of brain calcifications and diagnose familial idiopathic basal ganglia calcification (IBGC).     

Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation

Summary Patients investigated at our institute during the last decade included 166 (1.2%) who showed uni- orbilateral basal ganglia calcification on computed tomography. We tested the significance of this neuroradiological observation by statistical comparison of these patients' clinical disorders with the findings in a random sample of 622 patients without basal ganglia calcification. The odds for the most common neurological disturbances were similar in patients with and without basal ganglia calcification. After adjustment for differences in age and brain atrophy there was no evidence of a significantly increased risk of dementia (odds ratio 1.1), cerebral infarction (1.4), epilepsy (0.9), vertigo (1.6), headache (1.8), or alcoholism (0.9), which represented the most common diagnoses. We conclude that basal ganglia calcification cannot be considered as a clinically relevant neuroradiological finding in the majority of cases and that it should not be used as an explanation for frequently observed neurological disturbances.     

Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification

Background: Bipolar disorder (BD) has been linked with the manifestation of catatonia in subjects with autism spectrum disorders (ASD). Idiopathic basal ganglia calcification (IBGC) is characterized by movement disorders and various neuropsychiatric disturbances including mood disorder. Case: We present a patient with ASD and IBGC who developed catatonia presenting with prominent dystonic feature caused by comorbid BD, which was treated effectively with quetiapine. Conclusion: In addition to considering the possibility of neurodegenerative disease, careful psychiatric interventions are important to avoid overlooking treatable catatonia associated with BD in cases of ASD presenting with both prominent dystonic features and apparent fluctuation of the mood state.     

Parkinsonism,basal ganglia calcification and epilepsy as late complications of postoperative hypoparathyroidism

Summary A patient with post-thyroidectomy hypoparathyroidism, basal ganglia calcification, parkinsonism and seizures is reported. The parkinsonism was resistant to levodopa therapy but was not significantly improved by the correction of hypoparathyroidism. Previously reported cases are discussed, as well as the relationship between hypoparathyroidism, calcification of basal ganglia, parkinsonism and epilepsy.     

Basal ganglia calcification on computer tomographic scan

Computerised tomography of the brain was used to demonstrate basal ganglia calcification which may be of an insufficient degree to be seen on skull X-ray.
Cases referred for CT scan from hospitals in Singapore for various reasons over a period of 12 months were studied for basal ganglia calcification. There was a startlingly high incidence of 1.5%, as 47 cases (all except 2 were Chinese) showed such calcification. In 42 cases there was no evidence of basal ganglia calcification on skull X-ray. 16 cases showed neurological affection, fits being the commonest manifestation.
An unexpected finding was that no case had abnormality of calcium metabolism or evidence of hypoparathyroidism or pseudohypopara-thyroidism.
The CT scan is very sensitive in demonstrating minimal basal ganglia calcification and our impression is that such calcification is common.     

Idiopathic basal ganglia calcification presenting as hypomania

A sixty-four-year-old lady manifested a hypomanic psychosis and later developed features of a subcortical dementia and movement disorders of Parkinsonism and chorea. Computerized tomography revealed bilateral basal ganglia calcification. No evidence of parathyroid disorder or any other cause for the calcification was present. There has been only one previously reported case of organic mood disorder of a manic type presentation of idiopathic basal ganglia calcification (IBGC). The oldest reported age of onset of IBGC presenting with psychosis is 53 years and with dementia is 68 years.     

Mobius syndrome with basal ganglia calcification

Basal ganglia calcification has not been described in Mobius syndrome. A family with two children with Mobius syndrome are reported. Bilateral basal ganglia calcification was seen on computed tomography in both. This is the first family where cerebral involvement has been clearly documented in this syndrome.