Neuroimmunology Reports最新文献

We report two cases of nasopharyngeal negative COVID-19 infections in patients with demyelinating diseases on anti-CD20 treatments. Despite negative nasopharyngeal polymerase chain reaction (PCR) tests, both patients exhibited radiological features consistent with SARS-CoV-2 infection, with one confirmed in bronchoalveolar lavage fluid. Immunocompromised patients may have limited immune responses, possibly contributing to persistent COVID-19 infections despite vaccination history. These findings underscore the need for increased vigilance and consideration of lower respiratory tract infections in immunocompromised patients on anti-CD20 therapies.

Multiple sclerosis, as a chronic neurodegenerative disease, causes various complications for patients. The presentation of the disease with a neurological dysfunction called clinically isolated syndrome(CIS) is commonly vision problems and weakness in the body or extremities. Dystonia as a movement disorder is a rare presentation in MS. Here we report a case presenting lingual dystonia as the first manifestation of multiple sclerosis.

Background

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare central nervous system autoimmune disease commonly associated with aquaporin-4 antibody (AQP4 Ab). ARCN1-related syndrome is a rare genetic syndrome caused by mutations in archain 1 (ARCN1) gene that encodes the coatomer subunit delta protein in the coat protein complex-I involved in intracellular protein transport. Impaired intracellular trafficking might predispose to autoimmunity. We report a boy with AQP4 Ab positive NMOSD and ARCN1-related syndrome.

Case report

A 7-year-old boy with ARCN1-related syndrome (c.508C>T; p.Arg170*; pathogenic variant) presented with severe right sided optic neuritis, fever, intractable hiccups and vomiting. The patient was diagnosed with NMOSD based on clinical presentation (optic neuritis, area postrema syndrome) and positive AQP4 Ab (serum titer, > 1:100,000). After a 5- day intravenous course of high dose methylprednisolone (30 mg/kg/day), his vision did not improve but other symptoms resolved. Maintenance treatment with intravenous immunoglobulin (IVIG, 0.4 g/kg/monthly) was started, but the patient continued to have recurrent left optic neuritis attacks despite escalating maintenance treatment regimen to oral prednisone in addition to IVIG. At the age of 8, the patient was started on a combination therapy with Rituximab and IVIG and has been NMOSD relapse free since then.

Conclusion

To date, this is the only reported case of NMOSD in a patient with ARCN1 mutation. Our case might further support an increased risk of autoimmunity in carriers of ARCN1 mutation.

Background

Neuromyelitis optica (NMO) is a relapsing CNS autoimmune disorder most commonly characterized by longitudinally extensive transverse myelitis (LETM) and/or optic neuritis (ON). Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency, characterized by immune dysregulation and decreased immunoglobulin production. Autoimmunity is common in CVID, however neurologic autoimmunity is exceedingly rare and co-occurrence with NMO has not been previously described. We present the case of a man in his 60′s with CVID who developed LETM and was subsequently diagnosed with Aquaporin (AQP) 4 Immunoglobulin G (IgG) seropositive NMO.

Methods

Chart review of a patient treated at the University of Washington.

Results

Our patient had been treated with intravenous immunoglobulin therapy for CVID for 5 years when he presented with subacute onset of ascending paraparesis, sensory loss, and urinary retention. MRI identified LETM from C3 to T9. AQP4 IgG was markedly elevated at a titer of >1:100,000. He responded well to immunotherapy.

Conclusion

Autoimmunity in CVID is thought to be from loss of regulatory T cell function as well as increased peripheral plasmablasts. We highlight the importance of considering autoimmune CNS diseases in primary immunodeficiencies as well as review possible pathophysiology of neurologic autoimmunity in CVID.

Background

Lambert-Eaton myasthenic syndrome (LEMS) is a rare condition characterized by proximal muscle weakness, autonomic symptoms, reduced tendon reflexes, the presence of pathogenic autoantibodies to P/Q-type voltage-gated calcium channels, and repetitive nerve stimulation abnormalities. Non-specific symptoms and coexisting organ-specific autoantibodies can be misleading.

Case report

A 24-year-old male patient with a history of autoimmune thyroid disease presented with proximal muscle weakness and weight loss. Electromyography and muscle biopsy showed signs of myopathy. The presence of anti-OJ antibodies and ground glass opacities suggested anti-synthetase syndrome. Plasmapheresis, corticosteroids, mycophenolate mofetil, and tacrolimus were started. His clinical condition improved, but muscle strength did not fully recover. Three years later, his muscle strength declined and he developed diplopia, areflexia, autonomic dysfunction, and respiratory failure. In this critically ill and frail patient, multitargeted therapy with plasmapheresis, corticosteroids, and mycophenolate mofetil was started in combination with eculizumab. Anti-voltage gated calcium channel seropositivity then proved LEMS, whereafter amifampridine, pyridostigmine, and rituximab were added. His condition improved. No malignancy or genetic cause was found.

Conclusion

We report a case of non-tumour LEMS in a young patient with autoimmune comorbidities (Graves’ hyperthyroidism and anti-synthetase syndrome), respiratory symptoms, and initial signs of myopathy, leading to a substantial diagnostic delay. This critically ill patient responded well to multitargeted immunotherapy in combination with amifampridine and pyridostigmine. This case illustrates the diagnostic challenges in this rare presentation.

Background

The first-line treatment for GBS is plasma exchange or intravenous immunoglobulin. In contrast, corticosteroids are not recommended for treating GBS. However, COVID-19–related Guillain–Barré syndrome occurs via mechanisms different from other infectious diseases.

Case report

A 63-year-old woman experienced back pain following COVID-19, progressing to numbness/weakness of the extremities, left peripheral facial nerve palsy, and abnormal sensation/allodynia in the face and extremities. Compound muscle action potentials showed severe temporal dispersion. Intravenous immunoglobulin administration slightly improved the lower limb muscle weakness and facial nerve palsy but was ineffective for the pain in the chest and back and numbness of the extremities. Three courses of intravenous methylprednisolone (IVMP) enabled the patient to walk unassisted.

Conclusions

This case is the first to demonstrate IVMP's effectiveness against COVID-19–related Guillain–Barré syndrome. Further studies are required to establish treatments for COVID-19–related Guillain–Barré syndrome.

Area postrema syndrome, characterized by unexplained intractable nausea, frequent vomiting, and hiccups, serves as a hallmark feature of neuromyelitis optica spectrum disorder (NMOSD), often indicative of brain involvement. We report a case of a 26-year-old woman who, following recovery from a recent COVID-19 infection, endured persistent nausea and vomiting for 10 days. Subsequently, she presented to the emergency department with acute bilateral lower limb weakness and urinary retention. Brain magnetic resonance imaging (MRI) revealed hyperintense lesions in the area postrema on T2-weighted imaging, while spinal cord MRI demonstrated long-segment hyperintense lesions from the C2 to T12 levels on T2-weighted imaging. Cerebrospinal fluid analysis showed pleocytosis and elevated protein levels, alongside the presence of positive AQP-4 antibodies in the serum, confirming the diagnosis of NMOSD. Treatment comprising plasma exchange, pulse steroid therapy, and subsequent intravenous immunoglobulin administration led to notable improvement in bladder control and muscle strength. Our case underscores the significance of recognizing area postrema involvement, even in patients with post-COVID-19 symptoms, and highlights the necessity for vigilance in diagnosing NMOSD, particularly when initial symptoms mimic gastrointestinal discomfort.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system caused by autoantibodies against the aquaporin-4 (AQP4) water channel. Inflammatory injury is often severe and focused on the optic nerves, spinal cord, and other CNS regions with high AQP4 expression. Acute management includes pulse corticosteroids and plasmapheresis; however, many patients have incomplete recovery. We describe the successful use of eculizumab in treating an acute severe refractory brainstem syndrome in a pediatric patient with NMOSD, highlighting the potential utility of eculizumab as a potent, acute therapy in pediatric NMOSD.

We report the case of a relapsing multiple sclerosis (RMS) patient, who, in light of the recent insights demonstrating the potential of high-efficacy disease modifying treatments (heDMT) to delay secondary progression, requested changing her platform therapy despite having currently no evidence of disease activity and a favourable neurofilament light chain serum concentration (sNfL). After changing to a heDMT, her EDSS and cognitive scores improved and her sNfL decreased further. Changing from platform to heDMT should be an available option for RMS patients wishing to maximize their brain health on the long-term.