“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene

Abstract

Acquired hepatocerebral degeneration (AHD) is a rare type of hepatic encephalopathy characterized by neuropsychiatric symptomatology, and peculiar neuroradiologic findings, without the clinical evidence of Wilson’s disease (WD). We studied a patient with AHD responsive to penicillamine who was heterozygote carrier for a novel mutation in the ATP7B gene, and discussed the possible role of the mutation in facilitating the appearance of the syndrome. A 37-year-old man with liver cirrhosis related to chronic hepatitis C was admitted because of progressive consciousness impairment. Family history was negative for WD. Ammoniemia was 176 lmol/L (NR, 9–33 lmol/L); total bilirubin 1.71 mg/dL (NR, 0.2–1.3 mg/dL); serum albumin 2.6 g/dL (NR, 3.3–5 g/dL); AST 62 U/L (NR, 10–45 U/L). Electroencephalogram disclosed diffuse slow wave activity. After rifaximin, lactulose, and branched chain amino acid infusion, his arousal state went back normal in about 12 hours, and ammonia levels decreased to 94 lmol/L.