title: Parkinsonian syndrome and ataxia as a presenting finding of acquired hepatocerebral degeneration.
abstract: The term "acquired hepatocerebral degeneration" (AHD) was coined to describe clinical entity distinct from genetically defined Wilson's disease. AHD is chronic neurological disorder, characterized by extrapyramidal and neuropsychiatric symptoms accompanied with advanced liver disease with portosystemic shunts. In majority of AHD cases, extrapyramidal symptoms appear in the presence of known liver disease. Here we present a patient with subacute onset of bilateral, asymmetric, hypokinetic-rigid syndrome and ataxia as initial presentation of liver cirrhosis. Manganese toxicity have major role in AHD pathogenesis. Failure of liver detoxification and presence of portosystemic shunting enables neurotoxic substance of manganese to avoid hepatic metabolism and to enter and accumulate in central nervous system. Predilection brain regions for manganese deposits are globus pallidum (GP) and substantia nigra (SN). Characteristic MRI findings of bilateral, symmetrical hyperintensities of GP and SN on T1-weighted sequences supported the diagnosis of AHD in our patient. In addition, increased T2 signal in dendate nuclei seen in our patient is rare radiological finding. So far, no consensus guidelines regarding medical treatment of AHD exist. We initiated low-dose levodopa treatment, but failed to provide beneficial effect. In conclusion, AHD is distinct clinical entity that should be included in differential diagnosis of both typical and atypical parkinsonian syndromes. Furthermore, our case highlights the importance of performing MRI in patients with atypical parkinsonism.
authors.affiliation: Department of Neurology, University of Zagreb, School of Medicine and University Hospital Centre Zagreb, Kišpatićeva 12, 10000, Zagreb, Croatia, vladimir.miletic@gmail.com.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Miletić
authors.forename: David
authors.initials: D
authors.lastname: Ozretić
authors.forename: Maja
authors.initials: M
authors.lastname: Relja
mesh_terms: D000978:Antiparkinson Agents / Q000627:therapeutic use; D001259:Ataxia / Q000209:etiology* / Q000473:pathology; D001284:Atrophy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006501:Hepatic Encephalopathy / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008104:Liver Cirrhosis, Alcoholic / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D014920:Wine / Q000009:adverse effects
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa