水関 清¹, 中村 泰子², 真鍋 孝治², 後藤 悟志², 近藤 俊文³

Kiyoshi MlZUSEKI¹, Yasuko NAKAMURA², Koji MANABE², Satoshi GOTO², Toshifumi KONDO³

¹明浜町国民健康保険狩江診療所, ²市立宇和島病院小児科, ³市立宇和島病院内科

¹Akehama Municipal Karie Medical Center, ²Department of Pediatrics, Uwajima Municipal Hospital, ³Department of Internal Medicine, Uwajima Municipal Hospital

キーワード : Inherited metabolic defect, Ultrasonic diagnosis, Wilson's disease

We describe ultrasonograms of three children with Wilson's disease. Sonography of case 1, that of a 9-year-old boy, showed the liver to have a coarse echo texture, the wall of the gallbladder to be thickened, and the presence of moderate splenomegaly. Sonographic examination after decoppering therapy had been conducted for 5 years showed a diffuse increase in hepatic parenchymal echogenecity together with multiple roundish hypoechoic areas and progression of splenomegaly. Sonography of case 2, that of a 9-year-old girl, also showed a coarse echo texture of the liver and thickening of the wall of the gallbladder; however, marked splenomegaly, a dilated portal vein, and ascites were also present. This patient died of liver failure. Pathologic findings of the autopsied liver showed micronodular cirrhosis associated with marked increase in copper-binding protein in the hepatocytes, thus confirming the diagnosis of Wilson's disease. Case 3, that of the 7-year-old younger sister of the patient described in case 2, showed no clinical symptoms. Sonography showed a diffuse increase in echogenecity of the hepatic parenchyma but disclosed no roundish hypoechoic areas. Sonography showed the disappearance of increased echo level of hepatic parenchyma after decoppering therapy had been conducted for 9 months. Although both patients had received the same decoppering therapy, the ultrasonogram in case 1 indicated deterioration of liver function, while that in case 3 indicated improvement. This difference in response to therapy could be explained by a difference in clinical stage of Wilson's disease at time of diagnosis. Thus the importance of early diagnosis of Wilson's disease is also discussed.