Donfrid M, Jankovic G, Strahinja R, Colovic R, Begic-Janeva A, Colovic M
Institute of Haematology, Clinical Centre, University of Belgrade, Yugoslavia.
Hepatogastroenterology. 1998 Sep-Oct;45(23):1774-6.
We present the case of a 53 year-old patient with idiopathic thrombocytopenia associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in August of 1994, and as the response to corticosteroid therapy was poor, the patient underwent a splenectomy in October of the same year. A liver biopsy, which was performed during the operation, showed Wilson's disease in the form of mild, chronic, active hepatitis. The serum ceruloplasmin was low, and the Kayser Fleischer's ring was positive. MRI of the brain showed cortical reductive changes with areas of copper accumulation in the white brain matter. An unusual presentation of Wilson's disease associated with idiopathic thrombocytopenia has not been published as of yet. The diagnosis of Wilson's disease was made at an advanced, adult age, which may implicate a heterozygous genetic configuration.
我们报告一例53岁患有与威尔逊病相关的特发性血小板减少症的患者。1994年8月诊断为特发性血小板减少症,由于对皮质类固醇治疗反应不佳,该患者于同年10月接受了脾切除术。手术期间进行的肝脏活检显示为轻度、慢性、活动性肝炎形式的威尔逊病。血清铜蓝蛋白水平低,凯泽-弗莱舍尔环阳性。脑部MRI显示皮质萎缩性改变,白质有铜沉积区域。与特发性血小板减少症相关的威尔逊病的这种不寻常表现迄今尚未见报道。威尔逊病在成年晚期才得以诊断,这可能意味着杂合子基因构型。