Objective: To present a case of the patient with acquired (non-Wilsonian) hepatocerebral degeneration (AHD).

Background: AHD is a clinical syndrome which includes movement and cognitive disorders as a consequence of liver cirrhosis or portosystemic shunt. We present a case where differentiating AHD from Wilson disease (WD) possessed a clinical challenge

Method: Case report.

Results: We present the case of a 54‐year‐old man with a history of liver cirrhosis due to prolonged alcohol abuse and untreated hepatitis C infection. At the age of 47, he started to experience slight general slowness and gait disturbance which were slightly progressing over time. Two years later he developed slightly slurred speech and marked swelling of legs. At the age of 52 he was diagnosed with liver cirrhosis. At the age of 53 after a fall patient developed obsessive disorder and hallucinations, his gait markedly worsened, and a year later he developed pathologically increased appetite and marked postural instability. Neurological exam showed slowness of eye saccades, pseudobulbar syndrome, pyramidal signs, parkinsonism, and dystonia along with severe postural instability in the absence of autonomic dysfunction. Brain MRI showed bilateral symmetric T1 hyperintense signal in globus pallidus, thalamus, and midbrain, being isointense on T2-weighted images. Apart from that, T2-weighted images showed bilateral symmetric hyperintense signal in subcortical white matter, in the central parts of GPi, and in middle cerebellar peduncles, being hypointense on T1-weighted images. Abdomen ultrasound showed splenomegaly. Serum fibrinogen, albumin, and total protein were decreased. Serum total copper was at the lower border of normal values, whereas serum ceruloplasmin was normal. No Kayser–Fleischer rings were found. Patient was negative for the most frequent 12 ATP7B mutations. However, he underwent penicillamine (PA) challenge test which was negative after administration of 1000 mg of PA, but it turned out to be positive after a second trial with 500 mg of the drug. That prompted us to do a test administration of PA for 6 months with a daily dose of 1000 mg, but the patient didn’t improve.

Conclusion: In the presented case, we consider AHD as a most reasonable diagnosis. Despite of positive second penicillamine challenge test, prolonged treatment with that drug hasn’t provided any improvement.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/acquired-non-wilsonian-hepatocerebral-degeneration-case-report/