We reported a 71-year-old man with inclusion body myositis with clinically overt dysarthria. He had been suffering from gradual progression of weakness in the hand muscles and lower extremities as well as dysarthria three years before admission. His neurological examination revealed muscle atrophy and weakness in the tongue, the forearm flexors, and the vastus medialis muscles. He had dysarthria to a moderate degree, while he denied any dysphasia. A biopsy from vastus lateralis muscle showed variation in fiber size, infiltration of mononucleated cells, and numerous fibers with rimmed vacuoles, leading to the diagnosis of definite inclusion body myositis. The EMG findings of the tongue demonstrated low amplitude motor unit potentials during voluntary contraction, abundant fibrillation potentials at rest, and preserved interference pattern at maximal contraction, implying myogenic changes. We surmised the dysarthria seen in this patient, an atypical clinical feature in IBM, presumably caused by muscle involvement in the tongue muscle. Dysphasia is common symptom in IBM patient and has been much reported previously. But dysarthria in IBM patient has not been aware, for this reason this report should be the rare case.
We report a 38-year old woman with recurrent hypersomnia, in whom lithium carbonate was effective in preventing hypersomnia attacks. After onset at 26 years, she complained of frequent and severe episodes of hypersomnia accompanied by anorexia and urinary incontinence. Electroencephalogram showed mild slowing during a hypersomnic period, but not during an asymptomatic period. The CSF orexin level was normal during a hypersomnic period. The effectiveness of lithium was confirmed because the symptoms recurred after its withdrawal and disappeared after its reintroduction. The treatment of recurrent hypersomnia has not been established although the effectiveness of lithium has been described in some cases. This report supports the importance of maintaining effective serum lithium levels in the treatment of recurrent hypersomnia.
A 76-year-old woman experienced unsteadiness in walking in 1996. On the basis of clinical and imaging findings, the patient was diagnosed multiple system atrophy. During follow-up, her gait disturbance became aggravated leaving her unable to walk unaided. She was referred to our department in 2003. T2-weighted images on brain magnetic resonance imaging (MRI) revealed low signal intensity in both putamina and a linear high-signal-intensity area on their outsides. Single photon emission computed tomography (SPECT) disclosed a reduced blood flow in both corpora striata. These findings were consistent with the diagnosis of Parkinsonian-type multiple system atrophy. The patient had anti-glutamic acid decarboxylase (GAD) antibody-positive type 1 diabetes mellitus and a normal thyroid function, and was positive for antithyroid antibodies. She was not found to have anemia on blood tests, but was positive for intrinsic factor antibodies. Vitamin B12 was markedly reduced to below the detection limit. The findings suggested that the patient's condition was autoimmune polyglandular syndrome type 3. In 2004, treatment with intramuscular injection of vitamin B12 was initiated, after which the patient's gait disturbance was improved and she was able to walk unaided. In 2009, her unsteady gait returned and was again unable to walk unaided. Autoimmune encephalopathy was suspected, and thus high-dose intravenous immunoglobulin therapy was performed. Following treatment she was able to walk steadily. This case suggests the importance of detailed tests for autoantibodies, including endocrine autoantibodies, and the measurement of vitamin B12 and total homocysteine levels in view of the possibility of autoimmune polyglandular syndrome-related neurological disorders in diabetic patients with intractable neurological disorders that are difficult to diagnose.
A 73-year-old Japanese male was admitted because of difficulty in standing up after acute upper respiratory inflammation with mild fever followed by watery diarrhea. Neurological examination revealed moderate proximal muscle weakness and loss of tendon reflexes in all extremities. The blood sodium level was 106mEq/l on admission. The blood level of antidiuretic hormone (ADH), renin and aldsterone was 11.3pg/ml (normal value 0.3-4.2), 0.2ng/ml/h (0.2-2.7) and less than 10.0pg/ml (38.9-307.0), respectively. The plasma osmolarity was 221mOsm/kg (270-295) , and the urine osmolarity was 416mOsm/kg (50-1,400). EMG and nerve conduction studies suggested acute demyelination in the motor and sensory nerves. CSF revealed 10cells/mm3 and elevated protein to 98mg/dl. The clinical course, laboratory data and electrophysiological findings suggested coexistence of the syndrome of inappropriate secretion of ADH (SIADH) and Guillain-Barré syndrome (GBS) from the very early clinical stage of the diseases. The clinical and laboratory findings improved after intravenous administration of saline over three weeks. When GBS is associated with SIADH, hyponatremia is commonly seen at the peak of motor paralysis, often accompanied by autonomic or respiratory failure requiring mechanical ventilation. This was not the case in the present patient. It is postulated that SIADH, like GBS, might be caused by an autoimmune mechanism.
A 71-year-old man presented with acute, right-sided neck pain and marked falls in blood pressure in response to cervical extension/rotation. Enhanced CT of the right carotid artery showed wall thickening and soft tissue enhancement surrounding the vessel. Ultrasonography demonstrated wall thickening and marked acceleration of the blood flow velocity. [18F] fluorodeoxyglucose (18F-FDG) positron-emission tomography (PET)-CT revealed increased FDG activity in the area of the right carotid bulb. The patient's symptoms resolved in 2 weeks with nonsteroidal anti-inflammatory drug; regression of wall thickening and decreased velocity were observed on follow-up ultrasonography. A carotid inflammatory process due to carotidynia in addition to atherosclerosis may increase carotid sinus baroreceptor stimulation, resulting in the onset of carotid sinus hypersensitivity.
We report a 51-year-old man with a dural arteriovenous fistula (DAVF) associated with bilateral thalamic lesions. He was admitted to our hospital because of cognitive disorder. T2-weighted MRI and fluid-attenuated inversion recovery (FLAIR) sequence of the brain revealed symmetric hyperintense lesions of bilateral thalamus and abnormal flow void that represents the enlarged veins. Cerebral angiography demonstrated DAVF in the superior petrosal sinus (SPS). It was mainly supplied by the internal carotid arteries. The strait sinus was not revealed, and the venous drainage was retrograde into the internal cerebral vein. Therefore the mechanism of cognitive disorder in this case was considered to be vasogenic edema of the bilateral thalamus due to DAVF of SPS. We decided to treat the DAVF by embolization via the feeding arteries approach, because strait sinus was not revealed and venous approach was difficult. After embolization, the size of DAVF was remarkably reduced. His cognitive disorder was markedly improved and the hyperintense area on T2-weighted MRI and FLAIR sequence had disappeared. Cognitive disorder due to DAVF of SPS is very rare. It is also difficult to diagnose bilateral thalamic lesions as DAVF, but it may be reversible by DAVF treatment. Thus, early diagnosis and treatment is important. Like this case, abnormal flow void that represents the enlarged veins could help to diagnose bilateral thalamic lesions due to DAVF.
A 34-year-old previously healthy man presented with acute transverse lumbar myelopathy and MRI evidence of a longitudinally extensive spinal cord lesion (LESCL) from the upper thoracic cord extending down to the conus medullaris. Gadolinium-DTPA enhancement revealed a clearly demarcated enhanced nodule confined to the level of the 11th thoracic vertebral body (T11), which might have caused longitudinally extensive edema in the spinal cord. Histopathological appearance of adenocarcinoma of the nodule led to the ultimate diagnosis of lung cancer. Intramedullary spinal cord metastasis in a young patient without previously-diagnosed malignancy is a rare disorder, but should be listed up as a cause of LESCL.
A 35-year-old woman developed recurrent aseptic meningitis three times over a period of 16 months. Each episode followed swelling of her cervical lymph nodes. During the third episode, microscopic findings of biopsied specimens from a cervical lymph node indicated subacute necrotizing lymphadenitis (SNL). While she responded poorly to NSAIDs, steroids rapidly improved her fever, headache and swollen lymph nodes. Since the first episode, anti-nuclear antibody (ANA) and anti-SS-A antibody was positive and the titer of ANA increased with each episode. SNL is a benign and self-limited disease, and the appearance of autoantibodies is usually transient. It is possible that a persistent immune abnormality is related to recurrences of aseptic meningitis with SNL.
We report a 70-year-old man with a 5-year history of Raynaud's phenomenon and slow progression of weight loss, easy fatigability, muscle weakness, skin sclerosis, and dropped head sign. The patient was assumed to have motor neuron disease by his attending physician, and was referred to our hospital. Physical examination showed skin sclerosis on the fingers, hands, forearms, face, and neck. Neurological examination showed advanced systemic muscle atrophy and weakness, especially in the neck, tongue, and proximal limb muscles. Fasciculations were not observed in these involved muscles. Deep tendon reflexes were hypoactive and pathological reflexes were negative. Sensory disturbance was absent. Laboratory tests showed moderately elevated serum creatine kinase level, and increased serum antinuclear antibody titer (1:5,120 with a nucleolar pattern). Needle electromyography showed a typical myogenic pattern in proximal muscles. The patient was diagnosed as having systemic sclerosis (SSc) with SSc-associated myopathy. Severe systemic muscle involvements, including dropped head sign and tongue atrophy, are rare manifestations in patients with SSc-associated myopathy. Our observations suggest that it is essential to pay attention to the dermatological findings of SSc in differential diagnosis of patients with muscular atrophy.