Krŭstev Z, Goshev E, Lukanov L, Vŭlkov I, Georgiev A
Vutr Boles. 1987;26(4):77-83.
The case of a 42 years old man suffering from Gaucher's disease is reported. The primary diagnosis was liver cirrhosis based on echographic and scintigraphic examinations. The following signs were found: thrombocytopenia, slight hemolysis, shortened life of the erythrocytes with considerable sequestration in the spleen, abnormal flocculation tests, increased acid phosphatase. The X-ray examination revealed irregularly oval light spots with different size and form and well cut outlines in the skull and a zone of bone resorption in the right shoulder joint. The liver needle biopsy showed parenchymal infiltration with Gaucher's cells. The above mentioned deviations and the family heredity of the patients suggested the diagnosis of an adult form of Gaucher's disease. The fibroplastic changes in the liver including formation of septa led to the suggestion of a link between Gaucher's disease and liver cirrhosis.
报告了一例42岁患有戈谢病的男性病例。基于超声和闪烁扫描检查,初步诊断为肝硬化。发现了以下体征:血小板减少、轻度溶血、红细胞寿命缩短且在脾脏中有大量滞留、絮凝试验异常、酸性磷酸酶升高。X线检查显示颅骨有大小和形态各异、轮廓清晰的椭圆形透光斑点,以及右肩关节的骨吸收区。肝脏穿刺活检显示实质内有戈谢细胞浸润。上述异常以及患者的家族遗传提示为成人型戈谢病。肝脏的纤维组织增生性改变包括形成间隔,提示戈谢病与肝硬化之间存在关联。