Liver Transplantation and Neurological Manifestations in Wilson Disease

Abstract

Purpose: The role of liver transplantation (LT) in managing the neurological manifestations of Wilson's Disease (WD) is not yet conclusive. A 26 year-old man with WD with cirrhosis experienced a dramatic improvement in motor function and cognitive testing early after LT, as well as normalization of copper balance. Methods: A 26 y/o Hispanic man presented with progressively increasing abdominal distension, dark urine, clumsiness of gait and cognitive deficits. He did not have any history of emotional disorder/drug or alcohol dependence/suicidal ideation/hallucinations. On physical examination he had a tense, distended abdomen with diffuse tenderness, BS+, liver and spleen could not be palpated. Imaging revealed a large ascites and splenomegaly (9.5 × 18 × 19 cm) without parenchymal lesions. Liver had a nodular contour and coarse echo pattern. CT of the Abdomen/Pelvis revealed massive ascites with a small, shrunken, irregular liver with nodular periphery. Patient was started on lasix, spironolactone and lactulose. EGD showed portal gastropathy and Grade 1 esophageal varices and ophthalmologic evaluation did not show KF rings. Laboratory studies showed Iron Deficiency anemia with normal antibody levels of ANA, AMA, alpha 1 antitrypsin and anti Sm Ab. SAAG>1.1 with 24 Hr urinary copper level of 1835 mcg/l and ceruloplasmin level of 3 mg/dl, liver copper 974 mcg/gm (dry wt) was consistent with Wilsons disease. Patient was started on D-Penicillamine and subsequently put on trientine due to heavy proteinuria and referred for a liver transplant. He finally got a liver transplant (sibling) and currently is in good health without any neurological deficits and marked cognitive improvement. Results: Asonuma et al reported that LRLT from heterozygous carriers of the WD gene could resolve clinical signs and symptoms of WD and correct the parameters of copper metabolism. In this case study, Copper metabolism in the WD recipient was compared before and after transplantation with marked reduction in urinary copper excretion. Long-term follow-up should be continued to evaluate this specific therapy.[figure1]Figure