Neuroimmunology Reports最新文献

We present a case of a preschool boy admitted to the pediatric intensive care unit with generalized weakness and encephalopathy that progressed to coma and spastic paralysis over the next few weeks. Extensive evaluation of a wide range of possible diagnoses, including infectious, post-infectious, autoimmune, and paraneoplastic disorders, proved unrevealing. Owing to concerns regarding autoimmune encephalitis, the patient received plasmapheresis, intravenous immunoglobulin, high-dose glucocorticoids, anakinra, rituximab, and empirical botulinum antitoxin. Despite these treatments, the patient's neurological condition continued to deteriorate, requiring endotracheal intubation. The patient developed repeated tremors and dystonic events, which progressed to hypertonia with gaze deviation. His-EEG in the third week of admission showed Radermecker complexes most consistent with SSPE. Because of his history of travel to Afghanistan at 8 months of age, before he was vaccinated for measles, and after a measles-like illness upon return, we checked the measles IgG titer in the CSF from the initial lumbar puncture and found it to be elevated. Global coverage with the first dose of the measles vaccine has dropped to 81 % by 2021, the lowest rate since 2008. This decline raises the concern of a possible increase in the incidence of measles and its fatal complications such as SSPE.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease causing axonal damage with corresponding functional deficits. In this case report, we prospectively tracked walking recovery and corticospinal excitability of a female diagnosed with NMOSD through six months after her inpatient rehabilitation (IPR) stay. She recovered independent walking function in home and community settings. Neurophysiological measures acquired using transcranial magnetic stimulation showed two temporal evolution patterns. There was a remarkably reduced intra-cortical inhibition and increased intra-cortical facilitation at the early recovery phase whereas increased corticospinal pathway excitability was noted at 6 months after IPR discharge.

Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease affecting the central nervous system. Injectable disease-modifying therapies such as interferon-beta have had longstanding and widespread use in MS treatment. We report the case of a 54-year-old woman with relapsing-remitting MS, who developed multiple bilateral subcutaneous granulomata and calcifications on both hips 11 years after a 9-year course of treatment with interferon-beta-1a (IFN-β-1a). We highlight the potential for delayed severe skin responses with subcutaneous IFN-β-1a injections, outline preventative measures, and discuss treatment options for this treatment complication.

Background

Tumefactive multiple sclerosis (TMS) is a rare subtype of multiple sclerosis (MS) that poses a diagnostic and therapeutic challenge, with relatively little available published data. Though studies have demonstrated similar disease course in TMS with non-tumefactive disease, refractory cases requiring early escalation of therapy are noted and risk factors are unclear. Furthermore, no studies have presented data specifically on adult African American patients with TMS.

Case report

We present a case of TMS refractory to steroids and plasma exchange in an African-American woman. Disease progression was halted after treatment with cyclophosphamide. The patient was later transitioned to rituximab maintenance therapy.

Conclusions

This case contributes to the limited data on disease course and treatment response of this rare disease process in a population that is under-represented in the literature. We note the importance of further studies to identify risk factors for refractory disease requiring early initiation of high-efficacy disease modifying treatment (DMT).

Background

Anti-Muscle-specific tyrosine kinase – Myasthenia gravis (MuSK-MG) is a rare neuromuscular junction (NMJ) disease subtype with variable clinical presentation and often atypical electromyography findings. While amyotrophic lateral sclerosis (ALS) can present with respiratory failure, its median respiratory insufficiency onset is estimated at six months from the onset of diagnosis, with variability predicted by baseline functional vital capacity (FVC) and bulbar onset-ALS. Anti-MuSK-MG presentation with the predominately irritable myopathic diaphragm is rarely reported.

Clinical presentation

We report a case of Anti-MuSK-MG presenting with persistent respiratory insufficiency and bulbar dysfunction initially misdiagnosed as bulbar-type ALS due to bulbar findings and tongue atrophy. Electromyography (EMG) and single fiber EMG (SFEMG) defied former diagnosis (ALS) with findings of asymmetrical right ulnar and spinal accessory decrements on slow rate repetitive nerve stimulation (RNS), abnormal jitter on SFEMG, and irritable myopathy pattern of the diaphragm and proximal muscles. The serology marker is positive for Anti-MuSK Antibody, and negative AhCR anti-body. With supportive care and Rituximab, the patient's bulbar and respiratory function gradually improved.

Conclusions

Anti-MusK-MG presenting with persistent respiratory insufficiency has been reported with atypical electromyography findings of myopathy and denervation. We report an intriguing case of MuSK-MG with irritable diaphragm myopathy pattern presenting with myasthenic crisis mimicking bulbar subtype ALS.

Background

Tumefactive demyelinating lesions are rare in multiple sclerosis (MS), and even less frequently seen in NMOSD (neuromyelitis optica spectrum disorder).

Case report

A 50-year-old man with large parieto-occipital lesion originally concerning for neoplasm underwent stereotactic brain biopsy. With pathology results and later, positive aquaporin-4 antibody (AQP4), he was subsequently diagnosed with tumefactive demyelinating lesion (TDL) due to AQP4. He was successfully treated with eculizumab.

Discussion

Here we demonstrate that eculizumab, a newer agent approved for NMOSD in 2019, can be used successfully for treatment of TDL in NMOSD. As the treatment landscape advances in demyelinating disorders, there should be awareness of the successful use of newer agents in rare clinical presentations.

Background

Cerebral autosomal dominant arteriopathy with subcortical infarcts (CADASIL) is the most common monogenic inherited small vessel disease. Autoimmune disorders, including multiple sclerosis, have been documented to co-exist with CADASIL, which can complicate the initial recognition. Inflammatory insults have been suggested to be associated with disease progression with SARS-CoV-2 infection.

Case Report

We present a case of a white woman in her 50 s who demonstrated progressive white matter changes with initial demyelinating characteristics in 2010. Their course was notable for accelerated progression after multiple central nervous system insults, including herpes simplex virus (HSV) encephalitis in 2017, suspected post-infectious autoimmune encephalitis in 2018, and neuroinvasive West Nile virus (WNV) infection with confirmed para-infectious NMDA receptor encephalitis in 2022. CADASIL was suspected given confluent anterior temporal and external capsule white matter changes. She was found to have a novel NOTCH3 missense mutation in exon 3 (c.313T>C, p.(Ser105Pro)), and electron microscopy of a skin biopsy demonstrated granular osmiophilic material deposits diagnostic of CADASIL.

Conclusion

This case demonstrates a novel pathogenic NOTCH3 mutation as well as the complexity of CADASIL diagnosis in the setting of possible concomitant demyelinating disease and other central nervous system insults. Significant phenotypic variability and overlapping acquired pathologies can make CADASIL recognition difficult. Given precipitous decline with each central nervous system insult in this case, we suspect these events hastened CADASIL progression.

Introduction

Immune-mediated autonomic neuropathies are difficult to diagnose in childhood because of the extreme rarity, nonspecific symptoms, and infrequent detection of autoantibodies specific to the disorders. There is a need for objective testing methods that are easily applicable to pediatric patients.

Description of case series

Case 1 was a 13-year-old boy who showed autonomic symptoms of fatigue, tachycardia, and hypertension with sensorimotor impairments, including diminished tendon reflexes, delayed nerve conduction, and enhanced peripheral nerves on MRI. Case 2 was a 9-year-old boy who exhibited autonomic signs of postural orthostatic tachycardia with no abnormalities in a nerve conduction test and MRI but decreased heart rate variability (HRV) on conventional electrocardiography (ECG). Case 3 was a 14-year-old girl with autonomic symptoms of hypohidrosis, constipation, and coughing episodes, with alteration of various HRV metrics on 24-hour Holter ECG. Although serum autoantibodies to ganglionic acetylcholine receptor were not detected in any patients, intravenous immunoglobulin therapy was effective in all cases, suggesting immune-mediated mechanisms.

Conclusion

In the latter two patients, the diagnosis of immune-mediated autonomic neuropathies was underscored by HRV on ECG, especially 24-hour Holter ECG. Further studies are required to establish its clinical significance.

Background

Neuromyelitis optica spectrum disorder (NMOSD) manifests itself with various and sometimes non-neurological complaints. The reported case describes one of the rare but important manifestations of neuromyelitis optica spectrum disorder, which needs to be noticed by neurologists and cardiologists.

Case presentation

The patient was a young woman who presented with abdominal pain and vomiting and due to the lack of improvement of symptoms with surgical and drug treatments, she underwent neurological examinations and was diagnosed with NMOSD. During the examination, he suffers from acute heart failure and stress cardiomyopathy, which improves with the treatment of the underlying disease.

Conclusion

Stress cardiomyopathy can occur in various conditions and threaten the patient's life. Brain lesions can seriously disturb the function of the heart, and in the course of these diseases, attention to the function of the heart and appropriate treatment should be considered by treating doctors.