Neuroimmunology Reports最新文献

A 20-year-old woman presented with ataxia, right-sided hemiparesis, headache, and fever. Brain MRI showed a large non enhancing pontine T2 hyperintense lesion with slight diffusion restriction. Her clinical condition progressed to quadriparesis, dysarthria and ophthalmoplegia. The patient was diagnosed with tumefactive multiple sclerosis. She had a positive response to plasma exchange and cyclophosphamide, and ultimately returned to running at 1 year follow up. De novo tumefactive demyelination, diagnosis, and indications for aggressive treatment are discussed.

Susac syndrome is a rare autoimmune endotheliopathy characterized by occlusion of small arteries in brain, retina, and cochlea presenting with triad of encephalopathy, retinal vaso-occlusive disease and hearing loss. The disease can be monophasic or relapsing with variety of symptoms and the majority of the patients do not have the classic triad, especially at the initial clinical presentation. In CNS neuroinflammaory disorders, refractory hiccup is a recognized manifestation of NMOSD area postrema syndrome. To our knowledge, this is the first report of Susac syndrome presenting with encephalopathy and refractory hiccup.

Background

: Baló concentric sclerosis (BCS) is a rare demyelinating disorder that overlaps with other demyelinating diseases. BCS usually present in the context of multiple sclerosis (MS) or preceding typical MS. It rarely presents as an isolated lesion, . IV methyl prednisolone (IVMP) is the mainstay in the treatment with various outcomes. Maintenance therapy is still not clearly defined.

Case presentation/case report: We present a case of isolated BCS that responded clinically and radiologically to long-term rituximab therapy.

Conclusion

: A definite guideline for treating patient with BCS either with MS or as isolated entity is still controversial. Our case reflects a remarkable response to rituximab in achieving clinical and radiological long-term remission.

Background

VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently described rare novel autoinflammatory syndrome characterized by systemic inflammatory and hematological symptoms. Based on reported cases thus far, central nervous system involvement is exceptionally infrequent.

Case report

A 77-year-old man had a five-year medical history of chronic fluctuating fever, weight loss, skin lesions, and dyshematopoiesis. He presented with acute headache, vomiting, and generalized weakness, and in the following days, he also developed dysarthria, diplopia, and rapidly decreasing consciousness. Investigations showed brainstem encephalitis with no evidence of concurrent infection. Despite treatment with high-dose Solu-Medrol, the patient died 20 days after hospitalization. Genetic screening confirmed the diagnosis of VEXAS syndrome.

Conclusion

This case presents a rare case of rhombencephalitis in a patient with VEXAS syndrome. There is a wide array of etiologies in rhombencephalitis, and clinicians may need to consider VEXAS syndrome in the diagnostic work-up if there is a history of systemic inflammatory symptoms.

Background

DPPX encephalitis, an ancillary, regulatory protein of the Kv4.2 potassium channel Dipeptidyl-peptidase-like protein-6, is caused by cell surface autoantigens to DPPX, and is considered a rare but treatable autoimmune disease. Patients generally start with gastrointestinal symptoms (diarrhea and abdominal pain) or weight loss, and then precede the central nervous system (CNS) hyperexcitability with or without cognitive dysfunction. Here we reported a DPPX-associated patient, whose titer of DPPX antibody was inconsistent with clinical symptoms.

Case presentation

This study presents a case exhibiting mild symptoms of DPPX encephalitis. A 30-year-old male suffered from mild memory loss after a fever, which could be easily misdiagnosed as influenza or other common diseases. Immunological examination based on cell-based assay (CBA) detected DPPX antibody in both cerebrospinal fluid and serum. All the symptoms recovered after the administration of immunotherapy within 3 weeks. The DPPX titer in serum, however, became higher at the same time. Six months later, the re-examination of the cerebrospinal fluid immunological test was negative for the DPPX antibody.

Conclusions

In view of the symptoms of DPPX-associated encephalitis and the fact that changes in antibody titers in CSF are more likely to reflect symptomatic changes, we suggest that clinicians actively perform lumbar puncture in suspected patients to avoid misdiagnosis or misjudgment of the disease.

Background

Neuromyelitis Optica (NMO) is a central nervous system (CNS) demyelinating disease. However, very little is known about callosal lesions in NMO. In addition, extensive splenic involvement as the first radiological finding is unusual and poorly described.

Case Presentation and Report

A female in her 30′s and a male in his 50′s were presented with lower limb weakness and blurry vision. MRI of the brain revealed focal lesions in the lateral splenium of the corpus callosum. However, over the next two months, symptoms become worsened. Repeated brain MRI showed a further progression of the splenium lesion. Plasma exchange resulted in clinical improvement and rituximab was used to maintain the clinical stability.

Conclusion

Extensive splenium lesion suggests NMO rather than MS, and this pattern can take up to two months to establish. This pattern of splenium involvement can be preceded by bilateral lateral splenium involvement in the early phase. Furthermore, in the acute stage, these patients require aggressive and prompt treatment with plasma exchange rather than steroid to prevent further deterioration.

Background

This study aimed to retrospectively report the findings of delta/notch-like epidermal growth factor-related receptor (DNER)-immunoglobin G (IgG) in cerebral spinal fluid (CSF) in two cases with cerebellar ataxia.

Methods

: CSF samples were collected from 3290 patients with possible autoimmune encephalitis. The immunofluorescence pattern was reviewed using a tissue-based assay.

Results

: An immunofluorescence pattern with a specific IgG-binding pattern in the cytoplasm of cerebellar Purkinje cells, as well as a fine-dotted pattern in the molecular layer, was found in two samples (0.06%, 2/3290), each from one patient. DNER-IgG was confirmed by cell-based assays. Both of the patients were male and did not have tumors. This suggests that cerebellar ataxia was the main manifestation. Brain magnetic resonance imaging showed non-specific lesions in both patients. One patient responded well to steroid treatment, but the other patient demonstrated a weak response to treatment. During the two-year follow-up period, both patients were stable, and no tumors developed in either patient.

Conclusion

The DNER-IgG antibody is rarely found in patients with possible autoimmune encephalitis, and therefore it is not necessarily associated with tumors.

Background

Paraneoplastic optic neuropathy is a rare condition typically linked to small-cell lung cancer. This report presents the first known case of such neuropathy associated with squamous-cell carcinoma of the tongue, highlighting the importance of considering atypical etiologies in the differential diagnosis of optic neuropathy.

Design/methods

Case Report

Results/case presentation

A 64-year-old smoker presented with progressive, bilateral, painless visual loss over a month. An eye exam revealed decreased visual acuity and bilateral optic disk edema. Initial external magnetic resonance imaging (MRI) showed minimal enhancement of the optic nerves, raising concerns for optic neuritis. The patient received five days of high-dose intravenous corticosteroids without improvement. Over the next two months, she progressed to a near-total visual loss. Blood tests revealed non-specific polyclonal antibody elevations, and cerebrospinal fluid (CSF) analysis demonstrated pleocytosis and negative infectious workup. Anti-CRMP-5 IgG antibodies (ab) were identified in CSF and serum. Positron emission tomography (PET) scan showed a small focus of hypermetabolism in the left oral cavity and adjacent cervical lymph node. The biopsy identified squamous cell carcinoma of the tongue. High-dose IV steroids and plasmapheresis resulted in minimal visual improvement only. The patient underwent the surgical removal of the primary tumor, and through four years of follow-up, no other malignancies were discovered.

Conclusions

To our knowledge, this is the first case report of anti-CRMP5 paraneoplastic optic neuropathy in the setting of squamous cell carcinoma of the tongue. Paraneoplastic etiologies should be considered in the differential diagnosis of optic neuropathy, particularly in older smoker patients.

Background

Multiple sclerosis (MS) patients receiving the disease modifying therapies (DMT) ocrelizumab and natalizumab occasionally report a transient worsening of MS symptoms prior to receiving their next treatment course. This worsening of symptoms is formally referred to as “end-of-dosing-interval” (EDI) or more commonly referred to as the “crap-gap” within the MS community. The etiology of this process remains poorly understood. To our knowledge, no such report has yet been published on patients receiving ofatumumab. In this report, we describe the cases of 3 MS patients who experienced EDI symptoms while on ofatumumab.

Methods

Information presented in this case series was collected as part of routine clinical care.

Conclusion

This is the first report of MS patients experiencing EDI symptoms on ofatumumab. Clinical providers need to be aware of this phenomenon to better communicate with their patients as they experience these changes. Its existence seems to expand beyond our traditional DMT options especially as new drugs are coming online.

Background

Neuromyelitis Optica Spectrum Disorder is a span of neuro-inflammatory diseases with observed predilection towards causing optic neuritis, longitudinally extensive transverse myelitis, area postrema syndrome, and diencephalon syndrome. Despite the revolutionizing discovery of its biomarker (Aquaporin-4-IgG-antibodies), its pathogenesis and possible para-infectious immunogenic triggers are rarely reported and not fully understood.

Clinical presentation

We report a case of Neuromyelitis Optica Spectrum Disorder with positive serum aquaporin-4-IgG-antibodies presenting with severe area postrema syndrome for a month followed by one-week of rapid constellations of extensive brainstem syndrome, transverse myelitis, and left optic neuritis. Magnetic Resonance Imaging of the brain and spine revealed left optic neuritis with multilevel patchy areas of intra-axial high T2- signal of the central and dorsal aspect of the medulla oblongata and cervical-thoracic spinal cord with mild patchy postcontrast enhancement in the lower medulla Interestingly, his illness was preceded by fever and flu-like symptoms and a nasopharyngeal swab polymerase chain reaction was positive for Enterovirus-71. The patient's condition gradually improved with remarkable recovery at nine-week mark. He was treated with plasmapheresis, intravenous pulsed methylprednisolone, an intensive six-week rehabilitation program followed by rituximab.

Conclusions

Multiple viral infections have been reported to induce Neuromyelitis Optica Spectrum Disorder. To the best of our knowledge, Enterovirus-71 has never been reported to induce this disorder despite its well-reported association with brainstem syndromes and rhombencephalitis. We postulate that this virus has induced immune-cross reactivity that triggered aquaporin-4-IgG-antibodies in our patient which warrants further research.