Session Information
Date: Tuesday, June 6, 2017
Session Title: Rare Genetic and Metabolic Diseases
Session Time: 1:45pm-3:15pm
Location: Exhibit Hall C
Objective: To describe case series of patients with acquired hepatocerbral degeneration of idioapthic cause
Background: Acquired (non-wilsonian) Hepato cerebral degeneration (AHD) is a rare neurologic syndrome that is seen in patients with chronic liver disease, a result of multiple metabolic insults. It is characterized by extrapyramidal and neuropsychiatric symptoms. The pathophysiology is not yet completely understood and the location of cerebral insults vary.
Methods: We present two cases with different presentations of Acquired Hepato-cerebral degeneration.
Case 1: A young female presented with symptoms of Jaundice, Bradykinesia, rigidity, tremors, akathosis, hepatomegaly and splenomegaly. Clinical picture and radiological investigations confirmed chronic liver parenchymal disease with portal hypertension. MRI brain showed chronic mineral deposition in b/l globus pallidi and b/l cerebral peduncles with generalized cerebral and cerebellar volume loss. Extensive evaluation for cause of liver cirrhossis including autoimmune disorders, Wilson’s disease, viral markers, biopsy did not reveal any cause of cirrhossis.
Case 2: An elderly female presented with increased sleepiness with bradykinesia, hypomania, drowziness. Chronic liver disease was confirmed clinically and radiologically. UGI scopy showed Grade I esophageal varices. MRI brain confirmed T1W bilateral symmetrical hyperintense lesion in lentiform nucleus and b/l cerebral peduncles. Workup for cause of cirrhossis including viral and autoimmune markers was negative.
Results: Acquired Hepato-cerebral degeneration has been described in patients with severe liver disease of varied causes, predominantly in patients with surgical or spontaneous porto-systemic shunts. Studies have indicated that multiple metabolic insults such as ammonia, manganese etc are responsible. The frequency, pathogenesis, clinical, neuroradiological, and biological characteristics of AHD and response to treatment have not yet been fully determined.
Conclusions: Cirrhosis associated Hepato-cerebral degeneration represents a unique sub set of acquired hepato-cerebral degeneration. It is important to identify such patients as as treatment with branched amino chain acids changes the outcome.
To cite this abstract in AMA style:
S. Desai, P. Thakkar, S. Seth, b. vaishnav, P. Buch, J. Mannari. Idiopathic acquired sporadic (non-wilsonian) Hepatocerebral degeneration [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/idiopathic-acquired-sporadic-non-wilsonian-hepatocerebral-degeneration/. Accessed June 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/idiopathic-acquired-sporadic-non-wilsonian-hepatocerebral-degeneration/