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

Cocco, Giovanni Antonio and Loudianos, Georgios and Pes, Giovanni Mario and Tolu, Francesco and Lepori , Maria Barbara and Barrocu, Marianna and Sechi, Gianpietro (2009) “Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene. Movement Disorders, Vol. 24 (11), p. 1706-1708. eISSN 1531-8257. Article.

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DOI: 10.1002/mds.22659


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.

Item Type:Article
ID Code:7711
Uncontrolled Keywords:ATP7B gene, major depression, Parkinson disease
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Deposited On:19 Jun 2012 13:18

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