机构:[1]Department of Neurology First Affiliated Hospital,Kunming Medical University, Kunming, P.R. China内科科室外科科室神经内科泌尿外科昆明医科大学附属第一医院[2]Yale School of Medicine,New Haven[3]and Department of Internal Medicine,St. Vincent’s Medical Center, Bridgeport, CT.
A 25-year-old woman presented with progressive apathy and disorientation, followed by acute-onset confusion that progressed to stupor. Physical examination revealed generalized reflex myoclonus to both tactile (Video 1, part 1) and visual stimuli (part 2). Hepatic and autoimmune workup was positive for transaminitis, hyperammonemia, and antimitochondrial and anti-smooth muscle antibodies (Table). The rest of her laboratory test results including chemistries were within normal limits. MRI of the brain was likewise unremarkable. EEG showed generalized slowing. She was diagnosed with autoimmune hepatitis-primary biliary cholangitis overlap syndrome(1) with hepatic encephalopathy. She was treated with steroids with full resolution of her myoclonus (Video 1, part 3). Hepatic encephalopathy is usually associated with negative myoclonus (asterixis) rather than reflex myoclonus. Little is known about the mechanism of reflex myoclonus, although small studies suggest cortical and subcortical subtypes reflect the origin of electrical signals leading to the myoclonic jerks.(2)