Asokan Athulya Geetha, D'souza Sydney, Jeganathan Jayakumar, Pai Shivananda
Head & Professor, Department of Internal Medicine.
J Clin Diagn Res. 2013 Mar;7(3):532-3. doi: 10.7860/JCDR/2013/4946.2814. Epub 2013 Mar 1.
Fahr's syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr's syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease.
法尔氏综合征是一种罕见的综合征，其特征为对称性双侧颅内钙化。我们报告一名63岁男性，他主诉进行性构音障碍6个月，伴有运动迟缓。神经系统检查显示有帕金森氏症特征。他的CT扫描显示基底神经节、丘脑和小脑有对称的大面积钙化。排除了双侧钙化的继发原因后，做出了特发性双侧纹状体苍白球齿状核钙化症的临床诊断，该病症也被称为法尔氏综合征。钙和矿物质的沉积与单一染色体位点无关，目前正在进行进一步的基因研究以确定该疾病的染色体位点。
