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一个家族中两兄弟姐妹患法尔氏病:病例报告。

Fahr's disease in two siblings in a family: A case report.

作者信息

Wang Hong, Shao Bei, Wang Liuqing, Ye Qiang

机构信息

Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, P.R. China.

Department of Neurology, Gaochun People's Hospital, Nanjing, Jiangsu 211300, P.R. China.

出版信息

Exp Ther Med. 2015 May;9(5):1931-1933. doi: 10.3892/etm.2015.2356. Epub 2015 Mar 16.

Abstract

Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare neurological disease characterized by basal ganglia calcification, Parkinsonism and psychiatric symptoms. The majority of patients with Fahr's disease are adults. The present study describes the cases of two patients with Fahr's disease. The patients were brother and sister and their parents were close relatives. The onset age of Fahr's disease in these two patients was early, with the onset age of the brother being in the teens and the sister in early childhood. The patients exhibited different clinical manifestations. The main symptoms of the male patient were Parkinson's disease appearance and the loss of the ability to carry out simple calculations, while the main symptoms of the female patient were grand mal seizures and cerebellar ataxia. Although the two patients had distinct clinical manifestations, they both had similar intracranial multiple calcifications. The computed tomography scan remains the main method used in the diagnosis of Fahr's disease. Following treatment with dopamine and a dopamine receptor agonist, the extra-pyramidal symptoms of the male were significantly relieved. The female patient was administered antiepileptic drugs and there was no recurrence of epilepsy following treatment.

摘要

特发性基底节钙化,也称为法尔病,是一种罕见的神经系统疾病,其特征为基底节钙化、帕金森综合征和精神症状。大多数法尔病患者为成年人。本研究描述了两名法尔病患者的病例。这两名患者是兄妹,其父母是近亲。这两名患者的法尔病发病年龄较早,哥哥的发病年龄在十几岁,妹妹在幼儿期。患者表现出不同的临床表现。男性患者的主要症状是帕金森病面容和丧失进行简单计算的能力,而女性患者的主要症状是癫痫大发作和小脑共济失调。尽管这两名患者有不同的临床表现,但他们都有相似的颅内多发性钙化。计算机断层扫描仍然是法尔病诊断中使用的主要方法。用多巴胺和多巴胺受体激动剂治疗后,男性患者的锥体外系症状明显缓解。女性患者服用了抗癫痫药物,治疗后癫痫未复发。

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本文引用的文献

1
Fahr's disease presenting with dementia at onset: a case report and literature review.
Behav Neurol. 2014;2014:750975. doi: 10.1155/2014/750975. Epub 2014 Mar 12.
2
Fahr's syndrome: literature review of current evidence.
Orphanet J Rare Dis. 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156.
5
Fahr's syndrome presenting with pure and progressive presenile dementia.
Neurol Sci. 2005 Dec;26(5):367-9. doi: 10.1007/s10072-005-0493-7.
6
What is and what is not 'Fahr's disease'.
Parkinsonism Relat Disord. 2005 Mar;11(2):73-80. doi: 10.1016/j.parkreldis.2004.12.001.
7
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).
Neurology. 2004 Dec 14;63(11):2165-7. doi: 10.1212/01.wnl.0000145601.88274.88.
8
Subacute dementia and imaging correlates in a case of Fahr's disease.
J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1163-5. doi: 10.1136/jnnp.2003.019547.
10
Immunohistochemical examination on intracranial calcification in neurodegenerative diseases.
Acta Neuropathol. 2003 Mar;105(3):259-64. doi: 10.1007/s00401-002-0640-7. Epub 2002 Nov 22.

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