Our case responded well to PLEX but relapsed. syndrome, glycine receptor, glutamic acid decarboxylase, myasthenia gravis Introduction Progressive encephalomyelitis with rigidity and myoclonus (PERM), part of the spectrum of stiff-person syndrome (SPS), is usually a rare neurological disorder characterized by axial and limb rigidity, painful muscle mass spasms, hyperekplexia, brainstem indicators, and autonomic dysfunction (1). Anti-glycine receptor (GlyR) antibodies are typically found in PERM patients with or without a tumor, although some patients also have anti-glutamic acid JD-5037 decarboxylase (GAD) antibodies (2). We herein statement a case of thymoma-associated PERM positive for GlyR, GAD, and acetylcholine receptor (AChR) antibodies that was successfully JD-5037 treated with thymectomy followed by immunosuppressive therapy. Case Statement A 72-year-old woman visited a local hospital with a 1-month history of dysarthria and chewing difficulties with masticatory fatigue in 2015. The attending neurologist strongly suspected that she experienced myasthenia gravis (MG) and thus prescribed pyridostigmine bromide 60 mg twice a day; however, she could not keep taking the medicine because of side effects such as nausea and vomiting. One week later, she experienced difficulty walking because of myoclonic jerks of her left leg. Occasionally, extensor spasms of the trunk (opisthotonus-like position) also occurred. Twelve days later, she was admitted to her local hospital. Anti-AChR antibodies were positive, and dysarthria significantly improved after intravenous administration of edrophonium chloride. Saline was also injected intravenously before edrophonium chloride to exclude the placebo effect, but it did not improve her symptoms at all. She was diagnosed with MG, and treatment with tacrolimus (3 mg/day) was started. However, she began to experience painful muscle mass spasms and stiffness of the lower extremities as well as myoclonus of the upper and lower extremities, and finally she became to be bedridden. Clonazepam and diazepam were then launched, and some limited improvement in the painful spasms and myoclonus occurred, but these symptoms gradually worsened again. Therefore, she was transferred to our hospital for further investigation and treatment approximately two months after the onset of symptoms. On admission, she was alert and well oriented without dementia (mini mental state examination [MMSE] was 27/30). A neurological examination revealed abnormalities in ocular movements, such as slow saccade and vertical gaze restriction, ptosis after sustained upgaze for 20 seconds, dysarthria, and dysphagia. Marked rigidity of her neck and JD-5037 spasticity of the lower limbs were also noticed. It was impossible to move her knee joints passively. Myoclonus and painful muscle spasms distributing to all muscle tissue of the upper and lower extremities were very easily elicited by touching or noise. Hyper-reflexia in both feet was observed, and pathological reflexes were positive in both legs. There were no sensory disturbances. A laboratory examination showed elevated C-reactive protein (3.52 mg/L). The thyroid function was normal, but the level of anti-thyroid peroxidase and anti-thyroglobulin antibodies were elevated. The anti-GAD antibody level was 74,000 U/mL in serum and JD-5037 610 U/mL in the cerebrospinal fluid (CSF). Anti-AChR antibodies were positive at a titer of 0.5 nmol/L. Serum antibodies to Yo, Hu, Ri, amphiphysin, Ma2/Ta, voltage-gated potassium channel (VGKC), and N-methyl-D-aspartate (NMDA) receptors were all unfavorable. A CSF analysis indicated normal values. Surface electromyography (EMG) revealed continuous contraction of both agonist and antagonist muscle tissue in the extremities during myoclonic jerks. The results of a nerve conduction study and needle EMG were normal. There was no decrease in the compound muscle action potential on repetitive stimulation of the median nerve at a frequency of 3 Hz. Tibial somatosensory evoked potentials (SEPs) did not show giant SEPs. Electroencephalogram showed diffuse low-amplitude Rabbit Polyclonal to Akt (phospho-Ser473) background activity without epileptic discharge. Chest computed tomography (CT) recognized a large mass with punctate calcification in the anterior mediastinum (Physique A). The cranial and spinal cord magnetic resonance imaging (MRI) findings were JD-5037 normal, except for acute thoracolumbar vertebral compression fracture due to muscle spasms. Open in a separate window Physique. A: A.