The second case was a 64-year-old woman diagnosed with PBC in June 2010, when she started UDCA 750 mg/d. Some months later, she was started on endoscopic sclerotherapy and injection of cyanoacrylate glue for gastric fundal varices. In December 2017, gastroesophageal varicose vein ligation and stripping were demonstrated for uncontrolled gastric bleeding. She had a 3-year history of type 2 diabetes mellitus, treated by keeping an appropriate diet for blood sugar. She developed dysphonia and weakness of the hands 3 months before admission. The symptoms gradually progressed. Two months later, she presented weakness in her lower limbs, therefore, she was admitted to our hospital in May 2018. She had lost 10 kg of weight over 3 months. She had no family history of neurodegenerative diseases.
Upon physical examination, muscle atrophy was observed bilaterally in the first dorsal interosseous muscles and the thenar, hypothenar muscles. Fasciculations and atrophy were evident in the tongue. Power was MRC grade 3/5 in the upper limbs and 4/5 in the lower limbs bilaterally. Deep tendon reflexes were brisk in all extremities. Positive bilateral Hoffman signs and hyperreflexia in the pharyngeal muscles were observed. No abnormality was observed in sensations and cerebellar function. AMA (>1:40) and ANA (1:320) were both positive. Hepatitis markers were negative, so were tumor markers. The levels of white blood cell count (1.80*109/L), red blood cell count (3.11*1012/L), hemoglobin (105 g/L), and platelet (30*109/L) all decreased. The biochemical results showed aspartate aminotransferase (AST) 41.3U/L and total bilirubin (TBIL) 26.0 umol/L. Baseline data of the patient was as follows (Table 1). There were some lacunar infarctions in bilateral frontal, temporal lobes, and left basilar ganglia on brain MRI. A thyroid ultrasound scan showed small nodules on the left and right lobes (Figure 1). Clear lungs were observed on her chest CT. Abdominal ultrasound visualized out of proportion hepatic lobes, mild heterogeneous decrease in echogenicity of the portal vein consistent with mural thrombus, splenomegaly (Figure 2) and dilated splenic vein, neither biliary obstruction nor space-occupied lesions. The CMAP amplitudes of right median and ulnar nerve decreased on NCS. EMG revealed florid active denervation changes in bulbar muscles and all limbs. Lumbar puncture was not executed because of her low platelet count. She was given UDCA, riluzole, and edaravone (Radicava), a new medication for ALS in 2017 approved by Food and Drug Administration (FDA). At the follow-up, she had indwelled gastric tube and difficulty in ambulation in 8 months.