[A case of primary HIV infection presenting as mononeuritis multiplex].

A 34-year-old man presented with gait disturbance. He had a low grade fever and diarrhea for a few days prior to admission. Two weeks after he started to have diarrhea, he developed gait disturbance with a left foot drop. The cerebrospinal fluid obtained on admission showed pleocytosis (30/microl) and increased protein. The motor nerve conduction velocities (MCV) of the left peroneal nerve and the tibial nerve were slow, but the right peroneal and tibial MCVs were within normal limits. A test for human immunodeficiency virus (HIV) antibody was positive. The Western blot was positive with bands of gp160 and p24, confirming HIV infection. Seroconversion-related neuropathy of HIV was diagnosed. Acute HIV infection should be included in the differential diagnosis of mononeuritis multiplex. Before full-fledged AIDS development, it is important to find early stage of HIV infection in patients, so that we can treat them more effectively by means of anti-HIV drugs.

[Postgraduate education for neurologists in hospitals authorized by the Japanese Society of Neurology].

To evaluate postgraduate education for neurologists, we performed a questionnaire-based investigation in hospitals authorized by the Japanese Society of Neurology. The response rate to the questionnaire was 91%. The number of board-certified neurologists is usually less than 5, even in the authorized teaching hospitals. Most respondents thought that the postgraduate training programs already existing in many teaching hospitals are insufficient, but nevertheless useful. More staff may be needed for postgraduate education in neurology. The respondents considered that neurological education has generally functioned well, except in certain areas such as brain death judgment. On the other hand, the rotation of training in neurosurgery, psychiatry and child neurology is still inadequate. The problem of devising a suitable training rotation system in postgraduate education for neurologists has not yet been solved.

New classification and treatment for myotonic disorders.

Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported. Both DM1 and DM2 have Cl channel abnormality which causes myotonia. Less commonly we encounter Thomsen's disease, and autosomal recessive generalized myotonia (Becker type) which also have a Cl channel abnormality. There are other myotonic disorders related to Na channelopathy which include three disorders: paramyotonia congenita, adynamia episodica hereditaria, and myotonia fluctuans. Myotonia has been treated by various Na channel blockers, mexiletine, phenytoin, and carbamazepine, but they were originally developed for cardiac arrhythmia, or seizure disorders and they have undesirable side effects, weakness. Comprehensive treatment includes myotonia control without reducing the strength, and care for systemic manifestations of DM1.

The effect of dehydroepiandrosterone sulfate (DHEAS) on myotonia: intracellular studies.

OBJECTIVE: In order to find some appropriate medicine to suppress myotonia without decreasing muscle strength experiments were performed on myotonic (mto) mice whose Cl channel does not develop due to stop codon and serves as an animal model of myotonia. In myotonic dystrophy dehydroepiandrosterone is low in the serum and it has been reported that intravenous injections of DHEAS to human cases improves myotonia and activities of daily living. MATERIALS AND METHODS: Three pairs of heterozygote mto mice, SWR/J-Clcn1(adr-mto/+) and ten Wistar rats were used. We performed intracellular recordings of myotonia from mto mice and the drug effects on insertion myotonia were recorded from the hemidiaphragm preparations of mto mice with different concentrations of DHEAS. Isometric twitch tension was recorded from rat hemidiaphragm preparations in Tyrode's solution and the effect of DHEAS on the muscle twitch tension was measured at different concentrations of DHEAS from 100 mg/l to 300 mg/l. The effect of mexiletine on ITT was also measured. RESULTS: In mto mice insertion myotonia was recorded as soon as the microelectrode was inserted in the muscle cells. When DHEAS was added to Tyrode's solution, insertion myotonia was suppressed. DHEAS decreased ITT up to 70% of the original value, though mexiletine decreased ITT to 30% of the original value. Therefore, the decrement of the muscle strength in DHEAS solution is much smaller than that of mexiletine. CONCLUSION: Since myotonic dystrophy shows progressive muscle weakness in addition to myotonia, medications like DHEAS are more favorable than the typical Na channel blocker.

[A case of Brown-Vialetto-van Laere (BVVL) syndrome in Japan].

Here we report a sixty-year-old woman of Brown-Vialetto-van Laere (BVVL) syndrome in Japan. She had sensorineural deafness, weakness and atrophy of her extremities from 15 years of age. Her neurological symptoms slowly progressed. She first visited our hospital in 1993 when she was 49 years old. At that time, she had distal muscle weakness and atrophy of the four extremities and bulbar palsy. Deep tendon reflexes were absent and the plantar toe reflex was flexor. EMG revealed neurogenic changes and the nerve conduction studied were normal. The vital capacity was marked decreased. On August 10, 2003, she was admitted to our hospital because of CO2 narcosis. She had III, VII, X, XI, XII cranial nerve palsy, distal muscle weakness and atrophy of the four extremities. From her neurological symptoms and signs, we made a diagnosis of BVVL syndrome. MRI revealed no high signal in pyramidal tract by FLAIR image. ABR showed no response, and VEP demonstrated delay of the P100. She was intubated, and was attached to a respirator to improve her CO2 narcosis. After treatment she improved and did not need to be assisted by a respirator during daytime. During night time, she had apnea, and her blood gas showed the retention of CO2, and she still required the respiratory assistance during her sleep. This is the first report of BVVL syndrome in Japanese literature.

Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and skeletal abnormality.

Autosomal dominant leukodystrophy is an extremely rare disease. Here we report on a dominantly inherited disease in a Japanese family with slowly progressive clinical course. Their symptoms and signs started in early childhood and very slowly progressed. In most patients spastic gait was the initial symptom. Neurological manifestations were characterized by pyramidal signs, ataxia, and mental deterioration. In addition to these neurological signs, the skeletal anomalies such as scoliosis and congenital hip dislocation were also present. MR images showed no abnormality in the early stage, but T2-weighted images revealed high intensity areas in the cerebral and cerebellar white matter, and the dentate nucleus in the advanced stage. Proton MR spectroscopy showed decrease of N-acetylaspartate/creatine ratio and increase of choline/creatine ratio in the advanced stage. Proton MR spectroscopy revealed normal N-acetylaspartate/creatine ratio and increase of choline/creatine ratio in the early stage. We suggested that these patients had abnormality in the white matter when MRI was still normal. We considered that intracranial demyelination was gradually progressed as the symptoms got aggravated.

Ulcerative colitis presenting as sensorineural deafness, brainstem encephalopathy, and white matter lesions.

BACKGROUND: Several rare neurologic complications of ulcerative colitis have been reported. REVIEW SUMMARY: We report a 69-year-old Japanese woman who developed bilateral sensorineural deafness, 2 attacks of bilateral ophthalmoplegia, and bilateral facial nerve palsy in association with ulcerative colitis. Laboratory data showed elevated cerebrospinal fluid (CSF) protein without pleocytosis, abnormal auditory brainstem evoked potentials, and multiple high signal lesions on magnetic resonance imaging of the brainstem and cerebral deep white matter. Her symptoms improved with corticosteroid therapy except for sensorineural deafness and an exacerbation of cerebral deep white matter lesions without any new clinical signs. CONCLUSION: Immunologic mechanisms may have led to her central and peripheral nervous system findings in addition to her colon disorder.

Relapse of ocular symptoms after remission of myasthenia gravis--a comparison of relapsed and complete remission cases.

Extended thymectomy and high-dose alternate-day prednisolone administration may increase the chance of remission in myasthenia gravis (MG) patients. In cases of remission, ocular symptoms sometimes reappear after a gradual decrease or discontinuation of prednisolone administration. We compared relapsed patients with those who experienced complete remission. We found that the period from onset of MG to thymectomy and initiation of prednisolone administration was longer in the relapsed cases, which suggests that early thymectomy and administration of prednisolone can lead to a superior outcome in MG patients.

[Dimethyl sulphoxide suppresses hydroxyl radical formation of muscle fiber necrosis induced by bupivacaine hydrochloride].

We induced acute skeletal muscle necrosis by using bupivacaine hydrochloride in Wistar rats and found that both 2,5- and 2, 3-dihydroxybenzoic acid significantly increased in the skeletal muscle. Dimethyl sulphoxide, a free radical scavenger, was administrated for 5 days, and resulted in significant lowering of the concentrations of 2, 5- and 2, 3-dihydroxybenzoic acid for four days. Histologically, the diameter of the regenerated muscle fiber seemed to grow by using dimethyl sulphoxide. Dimethyl sulphoxide may decrease the muscle degeneration. These results suggest that dimethyl sulphoxide is an effective hydroxyl radical scavenger, and may be a candidate for the treatment of myopathy.

[A case of Fahr's disease presenting "diffuse neurofibrillary tangles with calcification"].

77-year-old woman presented memory disturbance, hallucination, and personality change since the summer of 1988. Laboratory findings revealed normal serum Ca, P, HS-PTH levels and Ellsworth-Howard test was intact. Neuroradiological studies disclosed calcification in the dentate nucleus, putamen, globus pallidus and thalamus. We made a diagnosis of Fahr's disease. During the follow-up period of 13 years, brain MRI showed gradual atrophy in temporal lobes. This case was characterized by the clinical and neuroradiological findings of "diffuse neurofibrillary tangles with calcification: DNTC". We discussed the relations of Fahr's disease and DNTC in the literatures. From our long time observation of this case, we suggest that Fahr's disease includes DNTC.

Triphasic waves in a patient with tuberculous meningitis.

We report on the case of a 32-year-old woman with tuberculous meningitis (TBM) with electroencephalogram (EEG) output displaying triphasic waves (TWs). The EEG on day 8 revealed generalized slowing, frontal bilateral TWs, a background of 2Hz delta waves, and no epileptiform activity. The patient's condition improved slowly with antituberculosis chemotherapy treatment. A follow-up EEG on day 34 showed marked improvement, with no TWs, background activity improved to a 12Hz symmetric alpha wave pattern, and no epileptiform activity, as before. To our knowledge, this is the first report of TWs observed in a TBM case.

Autoimmune polyglandular syndrome type 2 with myasthenia gravis crisis.

We describe a rare case of autoimmune polyglandular syndrome type 2 initially presenting as Addison disease and autoimmune thyroid disease, with subsequent development of autoimmune hepatitis and myasthenia gravis (MG) crisis in a Japanese woman. MG improved with oral prednisolone followed by plasmapheresis for immunoadsorption; thymectomy was not performed. Conventional treatment for MG was effective and safe in this case, in which there was positivity for human leukocyte antigen A23, B52, B62, DR11, and DR15.

Familial Creutzfeldt-Jakob Disease with a codon 200 mutation presenting as thalamic syndrome: diagnosis by single photon emission computed tomography using (99m)Tc-ethyl cysteinate dimer.

The clinical features of familial Creutzfeldt-Jakob disease with a codon 200 point mutation [fCJD (E200K)] are similar to those of sporadic CJD (sCJD). MRI diffusion-weighted imaging (MRI-DWI) has been reported to be useful for the early diagnosis of CJD. We describe a Japanese fCJD (E200K) case in which thalamic symptoms were the initial manifestations. On admission, electroencephalography (ECG) showed no periodic synchronous discharge (PSD), and MRI showed no abnormalities. However, single photon emission computed tomography (SPECT) using (99m)Tc-ethyl cysteinate dimer ((99m)Tc-ECD) revealed hypoperfusion in the right thalamus. We conclude that the thalamic form of CJD tends to show no high-intensity area (HIA) by MRI-DWI, and that SPECT may be more useful for visualizing the affected area responsible for the thalamic symptoms at an early stage.

Histological and immunohistological changes of the skeletal muscles in older SJL/J mice.

SJL/J mice have been studied as the model animals for autoimmunological diseases. Recently it was clarified that SJL/J mice have a defect of dysferlin. Human limb girdle muscular dystrophy 2B and Miyoshi myopathy also have a defect of dysferlin. In this study we present the histological and immunohistological changes in the natural course. Histological study revealed that SJL/J mice had inflammatory, degenerative changes, and neurogenic changes in later ages. As for interstitial inflammatory cells, the macrophages were dominant in any age, and in the T cell subset, the CD4+ T cells were more abundant than the CD8+ T cells, and few B cells were seen. The laboratory data showed a high level of creatine kinase in all ages. It is suspected that the inflammatory changes were induced by the primary immunological abnormality or by the defect of dysferlin in SJL/J mice.