RESUMO
Wilson disease (WD) is an autosomal recessive disorder, in which copper is deposited in the liver, brain, cornea and kidneys. The clinical presentation is variable, with fully expressed disease manifesting cirrhosis, neurologic damage and Kayser-Fleischer (K-F) ring on the cornea. A 24-year-old patient developed right upper quadrant pain with a palpable mass and a swelling of the right talocrural articulation. X-rays were uneventful, but the routine examination of hepatic enzymes discovered a 6-8 fold increase in SGPT, SGOT and AST. Antibodies for hepatitis B, C were normal, as well as the ANA, ANCA, antimytochondrial and anti-smooth muscle antibodies. Ultrasound of the abdomen revealed extremely dilated hepatic, cystic ducts as well as gallbladder. A large, oedematous gallbladder with yellow green bile was removed, the liver was found to be cirrhotic, but as the operative bleeding was abundant a biopsy was not done. Serum ceruloplasmin was low [0.160 g/l (normal 0.204-0.407)], serum copper 12.7 µmol/l (11.0-24.4), transaminasis: always very high, in the last months normal/slightly elevated. Urine copper: 1.0 µmol/24 h (>9.44). As first seen the proband had tremor, dysarthria, dystonia and K-F ring on the cornea. After 10 months of treatment with penicillamine his transaminases normalized, the tremor, dysarthria, dystonia initially got worse and then ameliorated. The coagulation times are ameliorated, but not yet normalized. Mutational analysis has shown that the proband is homozygote for c.3207 C->A, p.H1069Q while his parents are heterozygotes. His sister is a healthy non-carrier. In brief, we describe an unusual presentation of WD, with gallbladder hydrops and talocrural arthritis in a patient with complete clinical manifestations of the disease.
