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A 75 year-old man developed gait disturbance and somnolence over a period of three months. Electroencephalography indicated theta slowing and cerebrospinal fluid (CSF) examination showed an increased cell count of 23/microliter and IgG of 7.2 mg/dl. He showed fatigue-inducing muscle weakness and the Harvey-Masland test demonstrated a low M-wave amplitude of 0.6 mV which increased to 3 mV with 50 Hz high-frequency stimulations. The serum titer of P/Q type anti-voltage-gated calcium channel (VGCC) antibody was quite high at 11,901 pmol/L (< 20 pmol/L). The patient was diagnosed as Lambert-Eaton myasthenia syndrome (LEMS) although at first no carcinoma was detected. Immunoadsorption therapy with a phenilalanine absorber column resulted in a reduction in the titer of anti-VGCC antibody to half of the initial concentration, but it increased again within several days. Six repeats of immunoadsorption and concomitant administration of prednisolone at a dose of 40 mg daily succeeded in reducing the anti-VGCC antibody titer of to below 390 pmol/L. The patient's consciousness disturbance and muscle weakness improved simultaneously over the next month and the lumbar puncture and electroencephalography showed normal results. Prednisolone administration was maintained at a dose of 30 mg daily and one year after occurrence of the first symptoms, a small cell lung carcinoma was detected. There was no evidence of limbic encephalitis such as an elevation of anti-Hu antibody in his CSF and serum or abnormal signal intensities in the hippocampal formations on MR imaging. The etiology of his disturbed consciousness remained unclear, but, in the case of LEMS, it could be a manifestation of a paraneoplastic syndrome associated with small-cell lung carcinoma. It is noteworthy that the anti-VGCC antibody titer rose to 1,262 pmol/L 2 months before his tumor was detected and decreased to 286 pmol/L after chemotherapy. P/Q type anti-VGCC antibody could therefore be a useful tumor marker reflecting activity of small-cell carcinoma.

A 65-year-old man developed right facial palsy and six months later experienced sudden unconsciousness and right hemiplegia. On admission he had severe nuchal rigidity, decreased visual acuity, and a hearing disturbance. A CT scan and angiography failed to reveal any lesions in the brain, but CSF cytology showed undifferentiated malignant cells with a high level of neuron-specific enolase. A postcontrast CT scan and MRI demonstrated diffuse meningeal enhancement and a faintly rim-enhanced cystic lesion at the cerebellopontine angle. The patient died four months after admission, and postmortem examination revealed meningeal dissemination of squamous cell carcinoma, probably arising from an epidermoid cyst at the cerebellopontine angle. Microscopic examination revealed squamous epithelial debris and a foreign body reaction in portions of the cyst wall and in the surrounding subarachnoid space near the base of the cyst. Rim enhancement of the cyst on MRI and the microscopic findings indicated that the recurrent headaches may have been the result of chemical aseptic meningitis caused by spontaneous leakage of the cyst's contents.

A 33-year-old pregnant woman developed respiratory difficulty with bilateral pleural effusion 31 weeks into gestation. On admission she had an elevated serum level of creatine kinase, but muscle weakness in the extremities was mild. After an immediate and successful Cesarean section, she developed respiratory failure and mechanical ventilation was required. The patient was diagnosed as having polymyositis from the limb muscle biopsy. She was treated with dexamethasone at a dose of 8 mg, methylprednisolone++, 1 g daily for three days, and then prednisolone 60 mg daily. One week later the serum level of creatine kinase was normalized and the patient was weaned from ventilator support. The dose of prednisolone was tapered 10 mg every week and she was discharged two months after delivery without prednisolone. A chest CT scan revealed no interstitial pneumonitis or aspiration pneumonia, so her respiratory failure seemed to be ascribable to polymyositis-related respiratory muscle weakness and pleural effusion. However, severe involvement of respiratory muscles without generalized marked muscle weakness is extremely rare, and pleural complications have usually been described in association with pulmonary parenchymal diseases. During the following two years polymyositis has not recurred in this patient and there have been no data indicative of other overlapping collagen diseases. Reports of polymyositis which occurred during pregnancy are rare, and the pathogenesis and clinical outcome of these patients need to be carefully investigated.

A 66-year-old man developed diplopia, ptosis, dysphagia, and acute respiratory failure. The initial diagnosis was myasthenia gravis and prednisolone had been administrated for three years. Because of recurrent upper respiratory infections, prednisolone was tapered off. Two months later, auricular chondritis, arthritis, and conjunctivitis appeared. He was diagnosed as having relapsing polychondritis on the basis of histological findings of the ear lobe biopsy. Reinstituted prednisolone had the effect on the auricular chondritis, arthritis, and conjunctivitis, but no effect on dysphagia, hoarseness, and respiratory failure caused by the deformity of the pharynx and airway. Tracheal collapse usually causes rapid death, so early tracheostomy and the use of endotracheal prostheses have been recommended in patients with airway obstruction from relapsing polychondritis, but such surgical management can only partially open up the large airways and has no effect on smaller airways. In this case tracheostomy and endoluminal stent placement have helped improve the patient's respiratory failure, but have had little effect on its aggravation at night in the supine position. The use of BiPAP after surgical management can be an effective treatment for airway involvement in relapsing polychondritis probably because it keeps the narrowed airways from collapsing, especially at night.

We report eight patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), paying special attention to the therapeutic effects of steroid and plasmapheresis. Each patient underwent 4 to 51 plasmapheresis sessions in addition to prednisolone therapy. Plasmapheresis was more effective in patients with motor neuropathy (6 patients) than in those with sensory neuropathy (2 patients). Concomitant steroid therapy enhanced the short-term efficacy of plasmapheresis. During a long-term follow-up, the patients who showed deteriorating clinical symptoms such as limb weakness, sensory disorder, decreased deep tendon reflexes and increased CSF proteins underwent plasmapheresis once or twice a month. This intermittent plasmapheresis could reduce the use of prednisolone or eventually discontinue the drug completely. We were not able to determine whether immunoadsorption plasmapheresis or double-filtration plasmapheresis was more effective for the patients with CIDP. CIDP is characterized by frequent recurrences of a chronic progressive course, and peripheral neuropathy and some patients with this disease are resistant to many therapeutic approaches. The present study strongly suggests that plasmapheresis with concomitant steroid therapy is very useful for both short- and long-term treatment of CIDP patients.

Type I familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary generalized amyloidosis characterized by polyneuropathy and autonomic nerve failure. The main component of the amyloid fibril protein in this disorder has been shown to be a variant prealbumin with a single substitution of a methionine residue for valine at position 30. In the present study we have investigated 19 patients with FAP aged 31 to 67 and an asymptomatic family member using gene analysis with primer-directed enzymatic amplification (PCR) of DNA, isolation of plasma variant prealbumin and immunohistochemical identification of tissue amyloid protein. All patients and a symptom-free boy in the affected family had the mutant prealbumin gene showing abnormal DNA fragments by treatment with restriction endonuclease Bal I, and plasma variant prealbumin was also detected in all of them by reverse-phase high performance liquid chromatography. Rectum biopsies obtained from 9 patients showed amyloid deposits which were specifically immunostained by anti-human prealbumin antiserum. However, an asymptomatic carrier at the age of 16 showed no rectal amyloid deposition. Recent studies of FAP have disclosed that the expression of type I FAP is closely associated with the gene mutation of prealbumin. Accordingly, a simple and rapid method to detect this gene abnormality using PCR technique is considered to be very useful for diagnosis of type I FAP and can also provide valuable information for the genetic counselling of the family members at risk.

Clinical and pathological findings of two patients, a 44-year-old male and a 54-year-old female, with adult-onset nemaline myopathy were described. Both patients showed normal motor development through their childhood; Patient 1 ran fast and was involved in powerful heavy labor until the age of 40, and Patient 2 was in good health until 49, when they began to have progressive muscle weakness. They had no family history of neuromuscular diseases. On neurological examination, they had moderate muscle weakness and atrophy in their limb-girdle and paravertebral muscles. Because paravertebral and neck muscles were preferentially involved, they had difficulty in holding the head straight up. They stood in a lordotic posture. They had neither high-arched palate nor facio-skeletal abnormalities which were common findings in congenital nemaline myopathy. Serum enzymes derived from muscle were normal and needle electromyography showed myogenic and neurogenic changes in both patients. On CT scan of the skeletal muscles, the paravertebral muscles were markedly decreased in density suggesting advanced fat tissue replacement in large areas. In patient 2 who was in more advanced stage, the quadriceps femoris, hamstrings and soleus muscles also showed the similar CT findings. Light microscopic examination of biopsied biceps brachii (Patient 1) and quadriceps femoris (Patient 2) demonstrated abundant rod-like structures in the majority of type 1 fibers. In both patients, there was a marked variation in fiber size. Type 1 fibers were atrophic and type 2C fibers increased in number.(ABSTRACT TRUNCATED AT 250 WORDS)