Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and angiokeratoma are main symptoms, In adulthood, renal, cardiac and cerebrovascular symptoms are occurred In past, only symptomatic treatments were available. In early 2000th, enzyme replacement therapy was developed after positive results of clinical trials. Ten years after approval, the data of long term safety and efficacy of enzyme replacement.

An 80-year-old male with prostatic adenocarcinoma who was treated with orchiectomy presented dysarthria and difficulty in walking. His symptoms subacutely progressed. Seven days later, he was non-ambulatory and was admitted to our hospital. He had poor vision and cerebellar ataxia of the lower extremities; however, his muscle strength, tendon reflexes, and sensory functions were preserved. Paraneoplastic retinopathy was diagnosed based on electroretinographic and visual field defect. Further, brain and spinal MRI, cerebral spinal fluid, and nerve conduction assessments were normal. These symptoms were followed by consciousness disturbance and respiratory failure; consequently, he required non-invasive positive pressure ventilation (NPPV) and tube feeding. Steroid pulse therapy and plasma exchange (PE) were performed. In response to the therapy, all these symptoms were relieved, and NPPV and tube feeding were withdrawn. However, the same symptoms occurred additional three times throughout the course of approximately 1 year. Each time, PE was the most effective treatment. Although paraneoplastic neurological syndrome associated with prostatic cancer is rare, immunotherapy could be a therapeutic choice to relive symptoms.

A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxia, and hyporeflexia in the extremities following an antecedent upper respiratory infection. We suspected that she had Miller Fisher syndrome (MFS) and performed an edrophonium test (ET) to rule out myasthenia gravis (MG). Edrophonium chloride improved the patient’s bilateral ptosis, but not her ophthalmoplegia. Given the absence of the waning phenomenon on electrophysiological examination, the anti-acetylcholine receptor antibody, and a diurnal variation of symptoms, we concluded that the ET result was a false-positive. A diagnosis of MFS was confirmed by the presence of a positive anti-GQ1b antibody. To our knowledge, this is the first case report of MFS with a false-positive ET.

The case of a 17-year-old man with Hodgkin’s lymphoma who presented with paraneoplastic sensory neuropathy is presented. The patient visited our hospital because of acute progression of dysesthesiae in the bilateral face and extremities. He also developed an ataxic gait due to decreased deep sensation. Post-contrast T₁-weighted MRI showed enhancement of both trigeminal nerves and the cauda equina. Cerebrospinal fluid examination was unremarkable. Intravenous immunoglobulin therapy and subsequent steroid pulse therapy did not improve his symptoms. Laboratory data showed an elevated serum soluble interleukin-2 receptor level. His chest X-ray and CT showed enlarged lymph nodes in the mediastinum, and the histopathologic examination of a lymph node biopsy specimen showed classical Hodgkin’s lymphoma. He was treated with chemotherapy. His symptoms of neuropathy improved promptly while the lymphoma was being successfully treated, and he was able to walk with a cane. The present case was characterized by paraneoplastic sensory neuropathy as the initial clinical feature in association with Hodgkin’s lymphoma. It is necessary to consider a paraneoplastic neurological syndrome even in a young patient with acute/subacute sensory neuropathy. Paraneoplastic sensory neuropathy associated with Hodgkin’s lymphoma could be expected to improve with oncotherapy, and examination of the malignancy and early treatment are important.

An 85-year-old woman was transported to our emergency room by ambulance with a complaint of slurred speech. Neurological examination revealed dysarthria only. We considered that lingual edema identified on physical examination might have influenced dysarthria. However, we were unable to perform sufficient evaluation, since she could not open her mouth widely or push the tongue out beyond the lips. We considered the incidence of acute cerebrovascular disease because of the acute onset, and performed emergency brain MRI. Imaging revealed that although no abnormality was present in the brain parenchyma, edema of the tongue and soft palate was evident on T₂-weighted sagittal imaging. We confirmed the dysarthria was caused by tongue edema due to angioedema. In addition, we diagnosed angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema, because ACEI had been started 2 months earlier as pharmacotherapy for hypertension. Tongue swelling due to angioedema should be considered when examining patients with dysarthria.

An 84-year-old woman developed blepharoptosis, diplopia, weakness of extremities, and dysphagia with elevation of serum CK levels after treatment with nivolumab against renal cell carcinoma. 3 Hz repetitive stimulation showed waning in the trapezius muscle, leading to the diagnosis of myasthenia gravis. Laboratory examination showed that anti-acetylcholine receptor antibody was negative. We performed IVIg and steroid therapy. However, her symptoms did not improve, and she died of respiratory failure, although serum CK levels ameliorated to the normal range. The results of autopsy showed atrophy of muscle fibers and massive infiltration of inflammatory cells in the endomysium of the iliopsoas muscle and diaphragm, indicating occurrence of myositis. Immunohistochemical analysis showed that CD8-positive T cells mainly infiltrates in the endomysium with a small number of CD4-potive T cells. Here, we report an autopsy case of nivolumab-induced myasthenia gravis and myositis.

A 67-year-old male was transferred to our hospital with diplopia, decreased deep tendon reflex and ataxia. He had been suspected Fisher syndrome because of previous upper respiratory tract infection. A cerebrospinal fluid examination showed marked hypoglycorrhachia, pleocytosis and elevated protein, and cytological examination suggested malignant lymphoma. Abdominal computed tomography revealed a left adrenal mass. A biopsy of the left adrenal mass revealed diffuse large B-cell lymphoma. He was treated with a combination of R-CHOP (rituximab, cyclophosphamide, doxorubicin hydrochloride, oncovin and prednisolone) and intrathecal administration of methotrexate, cytarabine and prednisolone. Neurological symptoms were gradually improved. Malignancy should be considered in addition to bacterial, fungal or tuberculous meningitis in a case with marked hypoglycorrhachia.

An 80-year-old man who had chronic heart failure and atrial fibrillation was refered to our hospital because of acute onset of fever and consciousness disturbance. Neurological examinations revealed deteriorated consciousness, nuchal rigidity and Kernig’s sign. A lumber puncture yielded clouded fluid with a WBC 11,200/μl (polynuclear cell 94%), 758 mg/dl of protein, 1 mg/dl of glucose, 0.007 of cerebrospinal fluid-blood glucose ratio and Gram positive cocci. Diffusion-weighted images on brain MRI showed no signal intensity in bilateral ventricles at admission. He was treated with ceftriaxon, vancomycin and ampicillin. Streptococcus salivarius (S. salivarius) was isolated from blood and cerebrospinal fluid. He responded promptly to antibiotics therapy, and within 5 days, he became lucid and afebrile. S. salivarius was sensitive for ceftriaxone, vancomycin and ampicillin. After Day 6, he was treated with ceftriaxone only. We diagnosed his condition as S. salivarius meningitis. He discharged from our hospital at Day 22. Many cases of S. salivarius meningitis were occurred in second and fifth decade. But elderly case was rare. Neurologist should consider that elderly case with bacterial meningitis was caused by S. salivarius.

A 16-year-old male with no previous medical history developed sudden fever and urinary dysfunction. He was admitted to our hospital due to bilateral leg weakness and sensory disturbance on the third day of weakness onset. A sagittal T₂-weighted image displayed a longitudinal extensive lesion of transverse myelitis in the spinal column from the upper cervical (C2) to the thoracic region (Th9). The patient was diagnosed with autoimmune myelitis and treated with four courses of intravenous methylprednisolone (1 g/day for three consecutive days per week). This improved his signs, and his serum sample tested negative for anti-aquaporin-4 (AQP-4) antibody but positive for anti-myelin oligodendrocyte glycoprotein (MOG) antibody in cell-based assays. We report this case of longitudinally extensive transverse myelitis involving fifteen vertebral bodies positive for anti-MOG antibody.