A 46-year-old woman was admitted to our hospital because of behavioral changes. Her mentality was fluctuating vigorously and neurological examination revealed disorientation and word finding difficulty. MRI demonstrated bilateral frontal and right temporal lesions. Cerebrospinal fluid examination showed predominantly lymphocytic pleocytosis. Brain biopsy disclosed inflammation but not neoplasm. Repeated steroid therapy gave her a recovery in neurological manifestations and MRI findings. As we got a positive result of anti-Hu antibody after her complete recovery, we did screening for tumors and found small cell lung cancer. She got a chemotherapy and remains free of relapse of any symptoms. There have been few reports in that anti-Hu associated paraneolastic syndrome showed steroid responsive frontal lesions. We suggest that anti-Hu associated paraneoplastic encephalitis should be considered for steroid responsive encephalitis with brain lesions other than limbic system, because early detection of paraneoplastic encephalitis and timely antitumor treatment are important for patient’s prognosis.

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A 31-year-old man was referred to our hospital because of progressive tremor and clumsiness in his limbs and trunk. His symptoms were started in the right leg then gradually spread to all extremities as well as his trunk for 2 years. Neurological examinations revealed muscle rigidity with resting tremor predominantly right limbs. Akinesia and retropulsion were positive. Neither pyramidal tract sign nor cerebellar ataxia was detected. Genetic testing showed the expansion of SCA8 CTA/CTG repeats as 28/141 repeats. Though moderate expansion (less than 92) of SCA8 repeats has been reported in healthy subjects and patients with various diseases, the extraordinary long expansion of CTA/CTG repeats in SCA8 gene in our patient could be significantly pathological. 600 mg/day of L-DOPA clearly improved his symptoms. Dedicate follow up of the clinical course of our patient and the accumulation of the further cases is essential.

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A 36-year-old female with systemic lupus erythematosus and antiphospholipid syndrome was referred to our department because of mild weakness of left arm and an episode of right amaurosis fugax for twenty days. Brain MRI showed right ACA/MCA/PCA border zone infarction on DWI/T₂WI/FLAIR and MR angiography (MRA) showed multiple segmental stenosis in right internal carotid artery, right and left middle cerebral artery, and bilateral posterior cerebral arteries. Treatment with oral aspirin (100 mg/day) and continuous infusion of heparin kept her neurological symptoms and signs stable. MRA on 28 days revealed complete recovery of multiple stenotic lesions, thus, diagnosis of reversible cerebral vasoconstriction (RCVS) was made. RCVS should be considered as a cause of neurological deficit in patients with SLE regardless of thunderclap headache.

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Paraneoplastic limbic encephalitis is a rare neurological disorder that frequently precedes the detection of malignancy. We report the case of a 68-year-old male with small-cell lung cancer who developed paraneoplastic limbic encephalitis associated with presence of the anti-Hu antibody, after achieving complete remission of the tumor by chemotherapy. The patient visited our hospital because of progressive sensory disturbance of the distal extremities at 65 years of age. Though paraneoplastic sensory neuropathy was suspected, we could not find any tumor and he did not improve with steroids or immunoglobulin therapy. Chest computed tomography (CT) revealed large mediastinal lymphadenopathy. He was subsequently diagnosed with small cell lung cancer at one year and three months after the neurological symptoms occurred. As his serum analysis was positive for the anti-Hu antibody, we diagnosed paraneoplastic sensory neuropathy. The lung cancer disappeared with chemotherapy, but he had developed short-term memory loss six months later. Brain fluid attenuated inversion recovery (FLAIR) imaging showed an abnormal high-intensity lesion in the left medial temporal lobe including the hippocampus. We therefore made the diagnosis of paraneoplastic limbic encephalitis following subacute sensory neuropathy associated with the anti-Hu antibody. To our knowledge, this is the first report of a patient presenting with paraneoplastic neurological syndrome in which limbic encephalitis developed after tumor disappearance. So we must recognize the possibility of neurological symptoms occurring during remission. As the mechanism of pathogenesis, delayed neuronal cell damage due to immune responses against the tumor is implicated.

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We report two 45 year old men with Duchenne muscular dystrophy. Case 1 showed a deleted exon 50 of the dystrophin gene by MLPA analysis, and Case 2 showed deleted exons 46-52. Both patients presented with severe weakness of the skeletal muscles and respiratory dysfunction, while cardiac involvement was mild and cognitive function was almost normal. The patients are able to shop at a mall, participate in activities, and attend hobbies, although they are bedridden with artificial respiration through tracheotomy. With the progress of the respiratory care and cardiac protective therapy, the prognosis of Duchenne muscular dystrophy has improved remarkably. At present, it is possible to survive over 40 years with maintenance of quality of life, if cardiac damage is not severe.

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A 69-year-old woman complained of diplopia and truncal titubation after upper respiratory infection. She presented with mydriasis and external opthalmoplegia of bilateral eyes, ataxia, hyporeflexia and cervical-brachial muscle weakness. The protein abnormally increased (49 mg/dl) in the cerebrospinal fluid, and the serum anti-GQ1b and anti-GT1a IgG antibodies were positive. The blood sodium level was 128 mmol/l indicating hyponatremia. She had low plasma osmolarity (251 mOsm/kg), high urine osmolarity (357 mOsm/kg) and high urine sodium level (129 mmol/l), while the blood level of antidiuretic hormone was not able to be measured. She was diagnosed to have Fisher syndrome (FS), pharyngeal-cervical-brachial variant of Guillain-Barré syndrome (PCB) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The hyponatremia improved with hyperosmotic saline infusion and restriction of water intake. Intravenous immunoglobulin therapy (IVIg) was effective only for ataxia, but the other symptoms mostly remained unchanged for a month. The serum anti-GQ1b IgG antibody was still positive even after one month. We performed high-dose intravenous steroid-pulse therapy. Then the mydriasis, external opthalmoplegia and cervical-brachial muscle weakness were immediately improved. This was a rare case of FS and PCB complicated with SIADH. IVIg, not steroid therapy, is generally chosen for FS since FS is considered as a variant of Guillain-Barré syndrome and steroid is not effective for Guillain-Barré syndrome as was proven by double-blind study. We suppose that the combined therapy of IVIg and steroid would be effective in patients with complicated symptoms and multiple antibodies.

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We report a 61-year-old Parkinson’s disease patient presenting with severe repetitive speech phenomena after deep brain stimulation. On admission, he showed impaired loudness, rough hoarseness, monoloudness and monopitch. It had been difficult for him to converse because of voice repetitive speech phenomena since 57 years of age. Medical control, regulation of contact location and voltage amplitude did not improve these symptoms. Lee Silverman Voice Treatment^® improved loudness and voice quality, but did not improve repetitive speech phenomena. After speech treatment with a pacing board, his repetitive speech phenomena improved more than before. Treatment with a pacing board may be effective for repetitive speech phenomena in Parkinson’s disease after deep brain stimulation.

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A 74 year-old man with progressive supranuclear palsy (PSP) was adimitted to our hospital. He developed bradykinesia 13 years previously. Neurological examination showed cognitive dysfunction, supranuclear vertical gaze palsy, pseudobulbar palsy, and parkinsonism such as akinesia, rigidity, and resting tremor. His chief complaint was glossoptosis with jaw-opening dystonia associated with rapid dose-elevation and/or overdose of dopaminergic drugs. After gradual tapering of dopaminergic drugs, he could keep his mouth closed all day. Drug-induced dystonia is a frequently encountered but often overlooked symptom of neurological disorders. The motor symptoms of PSP sometimes respond to dopamine replacement therapy; however, it should be kept in mind that rapid dose-elevation and/or overdose of dopaminergic agents may cause jaw-opening dystonia.

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A 28-year-old man noticed weakness in his left arm when he woke up. He was diagnosed as left radial nerve palsy and managed conservatively at a local hospital. A few days later, severe pain of the brachium appeared. Although severe pain improved in a year, dysesthesia and muscle atrophy remained. On admission, muscle weakness and atrophy were found in muscles innervated predominantly by the left radial nerve. In addition, needle-electromyography and computed tomography revealed the involvement of muscles innervated by the left suprascapular, long thoracic and axillary nerves, and we diagnosed the patient as neuralgic amyotrophy. Neuralgic amyotrophy should be kept in mind in diagnosing acute onset, painful radial palsy.

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Autosomal-dominant type of myotonia (Thomsen’s disease) and autosomal-recessive one (Becker’s disease) are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). Clinical manifestation of the diseases ranges from minimum to severely disabling myotonia. We report a Japanese family with Thomsen’s disease, featuring an index female young patient who possesses two dominantly-inherited mutated CLCN1 alleles. She showed severe myotonic symptoms from 18 months of age, associated with moderate muscle hypertrophy. Her mother had mild myotonic signs without muscle hypertrophy. Her father was quite normal by both clinical and electromyographic examinations. With genomic DNA extracted from blood leukocytes, all 23 exons of the CLCN1 gene were analyzed by direct sequencing of PCR products. The analysis revealed compound heterozygous mutations of T539A and M560T in the index patient, a heterozygous mutation of T539A in her mother, and a heterozygous mutation of M560T in her father. Since both mutations were previously described in families of Thomsen’s disease, her father was regarded as a non-symptomatic carrier. The family reveals that compound heterozygosity of two dominantly inheritable disease mutations exacerbates the myotonia, suggesting the dosage effect of CLCN1 mutation responsible for myotonia congenita of Thomsen type.

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[in Japanese]

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