Neuroimmunology Reports最新文献

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.

Background

Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently identified and recurrent inflammatory demyelinating disease of the central nervous system (CNS) in both adults and children. Although MOGAD acute attacks usually appear to be very responsive to high dose steroids and plasma exchange, the long-term side effects of steroids should be highlighted especially in children. Attack-prevention treatments also lack of class-I evidence and prospective randomized placebo-controlled trials are needed to better guide prevention treatment in refractory cases. Long-term immunosuppressive maintenance with mycophenolate mofetil, azathioprine or rituximab may not always effective in patients experienced recurrent demyelinating attacks.

Case presentation

We reported a rare case of 17-year-old MOGAD patient who experienced eleven relapses with azathioprine, mycophenolate mofetil and rituximab in five years, and finally effectively treated with ofatumumab (OFA), a novel fully humanized anti-CD20 mAb.

Conclusions

Timely and efficient treatment is crucial for better prognosis in refractory MOGAD. The fully humanized OFA may be an optimal choice if multiple therapeutic drugs fail to achieve remission. Further research on comparing OFA and RTX in MOG patient is needed.

Diaphragmatic pacing (DP) has not been well-studied in adults with central respiratory failure secondary to inflammatory disorders of the brain and spinal cord. We present two novel cases of DP in the treatment of respiratory failure secondary to brainstem and high cervical spinal cord lesions in neuromyelitis optica spectrum disorder patients. In case 1, DP facilitated tracheostomy reversal and the patient was successfully weaned from DP. In case 2, DP helped improve chronic hypercapnia and the frequency of apneic events. Early initiation of DP should be considered in this patient population to treat central hypoventilation and central sleep apnea.

Background

VZV myelitis is a rare and typically monophasic complication of VZV reactivation. There is no solid evidence for a particular treatment regimen for VZV myelitis, especially in recurrent disease. No prior reports or studies have looked at using intravenous immunoglobulin for this condition, particularly for refractory cases.

Case report

A 75-year-old female presented with paresthesia on the right lateral leg, followed by a vesicular rash in a T2 dermatomal distribution. Over a period of 2 weeks, she experienced bilateral lower extremity weakness. MRI revealed a C3-C6 enhancing lesion. VZV positivity was confirmed by skin biopsy. She was treated with 5 days of Solumedrol 1gm IV and valacyclovir 1gm TID with improvement of weakness and rash. However, over the next two years, she continued to get occasional disseminated vesicular rash with each flare of her myelitis despite continued valacyclovir. She was started on monthly IV Ig (1gm/kg IV Ig over 2 days) for her recurrent myelitis. Since starting monthly IV Ig there have been no further zoster outbreaks or episodes of myelitis. Her balance and gait have improved significantly.

Conclusion

We present an unusual case of recurrent disseminated zoster with myelitis successfully treated with monthly IV Ig. The successful treatment of this patient should prompt consideration for its use in similar cases of recurrent VZV myelitis and may provide insight for future studies on how to treat VZV-related diseases.

Background

Anti-N-methyl-d-aspartate [anti-NMDA] receptor encephalitis is one of the most common types of immune-mediated encephalitis. It is characterized by a neuropsychiatric syndrome associated with immunoglobulin G [IgG]-type antibodies against the NMDA receptor's GluN1 subunit in cerebrospinal fluid [CSF]. To our Knowledge, only six cases of autoimmune encephalitis with positive CSF NMDA receptor IgG autoantibodies have been reported among patients on long-term immunosuppressive therapies. The etiologies of all six cases were related to solid organ transplantation. Therefore, this report is the first to present a case of immunosuppression associated with an etiology other than post-transplant immunosuppression.

Case presentation

We present the case of a 59-year-old female patient who was on a long-term continuous immunomodulatory therapy for rheumatoid arthritis, and she consulted the emergency department several times for headache, symptoms of neurologic deficit, and subsequent progression to neuropsychiatric symptoms. CSF examination of the patient confirmed the presence of antibodies against the NMDA receptor; hence, the diagnosis of anti-NMDA receptor encephalitis was made.

Conclusions

It is important to recognize the clinical features of autoimmune encephalitis and to consider this condition in the differential diagnosis when neuropsychiatric symptoms are manifested in such patients. Patients on long-term immunomodulatory therapy present with atypical manifestations of anti-NMDA receptor encephalitis. The consideration of these manifestations in the differential diagnosis can ensure efficient diagnosis, management, and reduction in the consequences affecting morbidity and mortality of these patients.