Clinical and Experimental Neuroimmunology最新文献

Background

The co-occurrence of myasthenia gravis and primary antiphospholipid syndrome (APS) is rare. Notably, both the diseases share common complement-mediated mechanisms.

Case Presentation

A 36-year-old woman, who was previously diagnosed with myasthenia gravis and APS, developed multiple embolisms, involving the brain, kidney and spleen, with severe anemia and platelet reduction. She was diagnosed as catastrophic APS, and intensive immunotherapies, including plasma exchange, high-dose corticosteroid and rituximab, were introduced. After these therapies, symptoms of both APS and myasthenia gravis worsened, consistent with elevation of immunoglobulin G anti-beta-2-glycoprotein-I antibody and anti-acetylcholine receptor antibody. We started eculizumab, which resulted in stabilizing the disease activity of both diseases without notable adverse events.

Conclusions

Eculizumab can be effective for controlling multiple complement-mediated pathophysiology.

Background

We present a case of a 51-year-old man affected by Rosai–Dorfman disease with multiple disseminated intraparenchymal and a single spinal cord localization, presenting with dysphasia and paraparesis.

Case Presentation

The patient elected to receive medical steroidal therapy and two radiotherapy cycles. Steroids allowed initial regression of some lesions, while radiotherapy constituted an optimal maintenance treatment. At 6-year follow up, the patient did not develop any new neurological damage in respect to baseline.

Conclusions

Adjuvant therapy with radiotherapy and steroidal therapy is a valid option in multicentric Rosai–Dorfman disease patients not eligible for surgery.

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.