Clinical Application of Liver MR Imaging in Wilson’s Disease Jung-Eun Cheon, MD1 In-One Kim, MD1 Jeong Kee Seo, MD2 Jae Sung Ko, MD2 Jeong Min Lee, MD1 Cheong-Il Shin, MD1 Woo Sun Kim, MD1 Kyung Mo Yeon, MD1 Index terms : Hepatolenticular degeneration Liver Magnetic resonance (MR) DOI:10.3348/kjr.2010.11.6.665 Korean J Radiol 2010;11:665-672 Received January 22, 2010; accepted after revision July 8, 2010. 1Department of Radiology, Seoul National University College of Medicine, and the Institute of Radiation Medicine, SNUMRC, Seoul 110-744, Korea; 2Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Korea Corresponding author: In-One Kim, MD, Department of Radiology, Seoul National University College of Medicine, 101 Daehangno, Jongno-gu, Seoul 110-744, Korea. Tel. (822) 2072-3608 Fax. (822) 747-5781 e-mail: kimio@radcom.snu.ac.kr Objective: To determine whether there is a correlation between liver MR find- ings and the clinical manifestations and severity of liver dysfunction in patients with Wilson’s disease. Materials and Methods: Two radiologists retrospectively evaluated MR images of the liver in 50 patients with Wilson’s disease. The Institutional Review Board approved this retrospective study and informed consent was waived. MR images were evaluated with a focus on hepatic contour abnormalities and the presence of intrahepatic nodules. By using Fisher’s exact test, MR findings were compared with clinical presentations (neurological and non-neurological) and hepatic dysfunction, which was categorized by the Child-Pugh classification sys- tem (A, B and C). Follow-up MR images were available for 17 patients. Results: Contour abnormalities of the liver and intrahepatic nodules were observed in 31 patients (62%) and 25 patients (50%), respectively. Each MR find- ing showed a statistically significant difference (p < 0.05) among the three groups of Child-Pugh classifications (A, n = 36; B, n = 5; C, n = 9), except for splenomegaly (p = 0.243). The mean age of the patients with positive MR find- ings was higher than that of patients with negative MR findings. For patients with Child-Pugh class A (n = 36) with neurological presentation, intrahepatic nodules, surface nodularity, and gallbladder fossa widening were more common. Intrahepatic nodules were improved (n = 8, 47%), stationary (n = 5, 29%), or aggravated (n = 4, 24%) on follow-up MR images. Conclusion: MR imaging demonstrates the contour abnormalities and parenchymal nodules of the liver in more than half of the patients with Wilson’s disease, which correlates with the severity of hepatic dysfunction and clinical manifestations. W ilson’s disease or progressive hepatolenticular degeneration is an autoso- mal recessive disorder of copper metabolism (1). The gene that causes Wilson’s disease, located at chromosome 13 band q14.3, is known to code for a copper-transporting P-type ATPase (2-4). A mutation of the gene associ- ated with Wilson’s disease results in deficient biliary excretion of copper, leading to excessive copper accumulation in many tissues. Copper accumulation occurs mainly in the liver, but also in the brain, cornea, and kidney (1-5). The principal clinical manifes- tations of Wilson’s disease are either hepatic or neurological disease (6, 7). Ultrasound (US), CT, and MR findings of the liver in Wilson’s disease usually reflect nonspecific hepatic injury including fatty infiltration, acute hepatitis, chronic active hepatitis, and cirrhosis (8-12). In advanced Wilson’s disease, nodular infiltrations suggesting the presence of copper-containing nodules and contour abnormalities consis- Korean J Radiol 11(6), Nov/Dec 2010 665