Clinical and Experimental Neuroimmunology最新文献

Objective

This study aimed to describe the usefulness of our teleconsultation system for managing multiple sclerosis (MS) in regions without specialists.

Methods

A cross-sectional questionnaire survey involving 11 MS patients and their primary neurologists was carried out between May and December 2023. Real-time video conferences were conducted between an MS specialist at a hub hospital and patients with their primary neurologists at one of the four regional core hospitals in Hokkaido, Japan. Patients and their primary neurologists completed questionnaires to evaluate the usefulness of the teleconsultation system.

Results

The patients and their primary neurologists were generally satisfied with the teleconsultations and expressed willingness to continue using the system. In particular, alleviating the burden of visiting distant MS-specialized clinics was highly appreciated by patients. In addition, patients gave high scores for questions regarding increased satisfaction with the primary neurologists' care and the treatments they offered. The primary neurologists thought the system enhanced their knowledge of MS management. However, they did not think that the system could ease their burden for managing MS patients because of challenges in time allocation and scheduling for teleconsultation sessions.

Conclusions

The present study suggested that our expert teleconsultation system for MS reduces the burden on patients of visiting distant MS-specialized clinics, and enhances knowledge of MS management for the primary neurologists. It also promotes trust between patients and their primary neurologists, and taken together, these aspects could collectively lead to independent and sustainable MS management in regions without MS specialists.

Background

Autoimmune neurological syndromes pose diagnostic challenges due to their resemblance to neurodegenerative conditions. Autoimmune spastic ataxia is a rare phenomenon. This case presents a 56-y-old woman with subacute-onset spastic ataxia, highlighting the complexities in diagnosis and the role of autoimmunity in such cases.

Case Presentation

A woman in her fifties developed progressive spastic ataxia over a year and presented to our outpatient department for evaluation. The patient exhibited clinical signs including saccadic intrusions, gaze-evoked nystagmus, mixed dysarthria, spasticity, exaggerated reflexes, and cerebellar dysfunction. Brain magnetic resonance imaging (MRI) displayed the “hot cross bun sign” and cerebral and cerebellar atrophy. Initial tests yielded minimal abnormalities, but a positive antinuclear antibody (ANA) emerged. The patient initially declined immunotherapy. Upon symptom progression, a repeat cerebrospinal fluid (CSF) analysis showed inflammatory changes and a whole-body positron emission tomography (PET) scan indicated reduced uptake in the cerebellum and brainstem. Subsequent paraneoplastic antibody testing revealed an unspecified neuronal antibody targeting capillaries and arterioles. Treatment with steroids, plasmapheresis, and azathioprine led to sustained improvement, reducing spasticity, and enabling her to walk short distances.

Conclusions

This case emphasizes the diagnostic complexity of autoimmune neurological syndromes, particularly spastic ataxia. Autoimmune etiology should be considered even when neurodegenerative conditions seem likely. The presence of neuronal antibodies, inflammatory CSF, and response to immunotherapy underscores the role of autoimmunity in this case. Additionally, the “hot cross bun sign” may not always signify neurodegeneration, but can indicate immune-mediated neural damage. Recognizing autoimmune involvement early offers therapeutic possibilities and highlights the need for a comprehensive diagnostic approach in such cases.

Background

Patients with neuromyelitis optica spectrum disorder (NMOSD) are at an increased risk of pregnancy complications. Lack of NMOSD treatment during pregnancy is a risk factor for relapse. Here, we report two cases of pregnant women with anti-aquaporin-4 antibody-positive (AQP4+) NMOSD treated with eculizumab during pregnancy.

Case Presentation

Patient 1 was diagnosed with AQP4+ NMOSD 2 mo after giving birth to her first child. She was treated with tacrolimus and prednisolone, before switching to prednisolone monotherapy. Following concerns of teratogenicity associated with immunosuppressive therapy and oral steroid use, she began eculizumab treatment prior to a second pregnancy. When she became pregnant, eculizumab treatment was briefly paused while safety data were reviewed with her neurologist. A total of three doses were missed.

Patient 2 was diagnosed with AQP4+ NMOSD and began prednisolone treatment. Following a relapse, tacrolimus was added to her treatment regimen. Prior to pregnancy, she began eculizumab treatment alongside prednisolone and tacrolimus and maintained this regimen throughout her pregnancy.

No relapses or meningococcal infections occurred after eculizumab initiation in either patient, and both gave birth without complications to healthy babies. Patient 2 continues to receive eculizumab while breastfeeding.

Conclusions

We present two cases of pregnant women with AQP4+ NMOSD treated with eculizumab. Both women gave birth to healthy babies, have had no relapses since initiating eculizumab, and continued their treatment after birth. These cases are further evidence of the successful use of eculizumab during pregnancy.

Background

Dropped head syndrome (DHS) is a group of disorders that result in anterior neck flexion. Myasthenia gravis (MG) is a common cause of DHS. Previous reports have suggested that concurrent myopathy involving the paraspinal musculature may underlie DHS in patients with anti-acetylcholine receptor antibody-positive or thymoma-associated MG.

Case Presentation

A 64-year-old woman presented with a 3-month history of head drop and lordosis. Neurological examination revealed bilateral ptosis and weakness of the posterior neck extensors. Electrophysiology suggested neuromuscular junction involvement. Serum anti-MuSK antibodies were positive, and generalized anti-MuSK antibody-positive myasthenia gravis (MuSK-MG) was diagnosed. Needle electromyography (nEMG) of the splenius capitus and paraspinal muscles revealed acute and chronic myogenic changes. Imaging suggested paraspinal muscle atrophy. nEMG and magnetic resonance imaging (MRI) of both extremities were normal, and autoimmune myopathy-related antibody testing was negative.

Conclusion

Thymoma-negative MuSK-MG, demonstrating treatment-refractory DHS, may present with concurrent axial myopathy.

Background

Ofatumumab is an anti-CD20 human monoclonal antibody that is approved in several countries worldwide for the treatment of relapsing forms of multiple sclerosis (MS). Recent studies have shown promising results of ofatumumab therapy for rheumatoid arthritis (RA). We report a case with both MS and refractory RA that was successfully treated with ofatumumab.

Case Presentation

A 44-year-old woman with a history of RA since the age of 40, and prior treatment with methotrexate, prednisolone, and several disease-modifying antirheumatic drugs (DMARDs), including salazosulfapyridine, iguratimod, tacrolimus, presented with a recent onset of visual acuity loss in the left eye. Ophthalmic examination revealed a decreased central flicker frequency (CFF) and central scotoma. Brain magnetic resonance imaging (MRI) revealed periventricular multiple lesions and contrast enhancement of the left optic nerve. Cerebrospinal fluid analysis revealed mild lymphocytic pleocytosis, elevation of protein, and oligoclonal bands. Serum anti-aquaporin-4 (AQP4) antibodies, anti-myelin oligodendrocyte glycoprotein (MOG) antibodies, and other serological tests for optic neuritis were unremarkable. She was diagnosed with relapsing and remitting MS at 10 months after development of optic neuritis when she experienced a relapse, accompanied by new asymptomatic lesions detected on brain MRI. After ofatumumab administration, we discontinued all DMARDs and maintained remission over a 12-month period.

Conclusion

There is growing evidence of significant involvement of B-cells in the pathogenesis of RA and the effectiveness of B-cell depletion therapy in managing RA. Ofatumumab is an effective treatment for patients with MS and refractory RA.