Fahr病影像学诊断及病理学分析

目的 进一步提高对Fahr病影像学、组织学表现及遗传特点的认识，分析囊变的发生机制。方法 3例中女2例，男1例。2例经临床、实验室及手术病理证实；临床及实验室检查诊断1例。结合文献，分析Fahr病组织学表现、并发症（囊变、出血）的发生机制和遗传特点。结果影像学表现为双基底节区、大脑灰白质交界区广泛且较对称的钙化；小脑齿状核单侧、双侧性钙化各1例。2例分别于右额叶、左顶叶发生囊变。病理学检查见病变区有陈旧性出血所致含铁血黄素细胞形成。血管壁大部分呈玻璃样变性，管壁及邻近脑实质内见有钙盐沉积形成的沙砾体和不规则钙化。部分血管出现纤维素坏死，腔内血栓形成，并可见小动脉炎改变。囊变灶壁见有明显的含铁血黄素细胞沉积。实验室检查患者的血磷、钙指标均正常。结论 根据影像学表现，结合临床实验室检查，大多数病例可做出正确诊断。脑内出血、囊变均应视为本病的并发症。CT由于具有高的密度分辨率，因而在本病诊断中应作为首选检查方法。

The imaging and pathologic diagnosis of Fahr disease

Objective To further improve the recognition to the imaging and histological findings and genetics characteristics of Fahr disease,and to analyze the pathogenesis of cystification.Methods The epidemiological investigations were performed in 3(2 fermales,1 male) patients.Two patients were confirmed by surgicopathology combining with the clinical representation and laboratorial examination,1 patient was diagnosed by the clinical and laboratorial examination.Combining with review of related literature,the histological features and pathogenesis of complications(including cystification and hemorrhage) and genetics characters were analysed.Results The imaging examination demonstrated that Fahr disease mainly presented the symmetrical calcification in bilateral basal nuclei areas and subcortex in 3,furthermore,the bilateral calcification of dentatum in 1and the unilateral in 1,the cystification in 2(one in the right frontal lobe, the other in the left parietal lobe).The content of blood calcium and serium inorganic phosphorus was normal in the laboratorial examination.The pathological examinations revealed the siderocytes caused by chronic hemorrhage and some small vessels that most were hyalinosis and a few were fibrinoid necrosis,and that there were sand-like and irregular calcification inner or around vessel wall, thrombosis in vessel cavity and arteritis,and that hemosiderin aggraded in the cystic wall.Conclusion Most of Fahr disease can be diagnosed according to the imaging features combining with laboratorial examination.The hemorrhage and cystification in the brain should be regarded as the complications of Fahr disease.CT has higher diagnostic value than X-ray plain film and MRI because of higher density resolution.