481 - Acquired hepatocerebral degeneration presenting with parkinsonian-like features

Case Diagnosis: Acquired hepatocerebral degeneration presenting with parkinsonian-like neurological features in a patient with underlying liver disease

Case Description: 48-year-old female patient with a past medical history of alcohol abuse, alcoholic polyneuropathy, restless leg syndrome, seizures, chronic pain on opioids, interstitial cystitis, advanced cirrhosis initially presented to acute care for altered mental status secondary to a urinary tract infection. After treating her urinary tract infection, her mental status returned to baseline. She has had multiple hospitalizations in the past year for altered mental status secondary to hepatic encephalopathy. Upon further questioning, patient had been having worsening drowsiness, ataxia, and parkinsonian-like tremors over the past year. Physical exam revealed resting tremor in bilateral upper extremities, severe dysmetria with altered finger-to-nose testing, and severe ataxia. Brain MRI showed faint bilateral T1 shortening of the bilateral putamen and substansia nigra likely representing heavy metal deposition associated with liver disease, purportedly from manganese.

Discussions: A review of literature has identified cases of manganese deposition in the brain due to underlying liver disease leading to parkinsonian-like features, a syndrome called Acquired hepatocerebral degeneration (AHD). It is a rare, mostly irreversible neurological syndrome that occurs in patients with chronic liver disease. Manganese accumulation has been implicated as the mechanism of this degeneration. Although the exact mechanism is unknown, it is hypothesized to be due to hepatocellular degeneration, reduced biliary excretion of manganese, and formation of portosystemic shunts. Manganese is an established neurotoxin and deposition in substansia nigra can present with parkinsonian like symptoms. Treatment at this time is largely supportive care.

Conclusions: The underlying pathophysiology of patients who have liver dysfunction presenting with parkinsonian-like features is likely related to manganese deposition in the brain. Brain MRI can assist with diagnosis in these cases, with abnormalities in the putamen, substansia nigra, and globus pallidus being most commonly seen.