eNeurologicalSci最新文献

MS (multiple sclerosis) has specific criteria to avoid misdiagnosis. However, the Marburg variant of MS is so fulminant that initial axonal damage and other atypical observations have been allowed in past reports. We present a 74-year-old autopsy case with a vanishing tumor after steroids and radiation therapy, which was pathologically diagnosed as a Marburg variant with initial axonal loss. The case displayed radiological lymphoma-like observations: mass effects protruding to the lateral ventricle, fused extension from the choroid plexus to white matter with C opening sign, a growing lesion from the skull dura mater, high in diffusion-weighted imaging and low in apparent diffusion coefficient on magnetic resonance imaging (MRI) suggesting high cell density lymphoma. In addition, clinical manifestations were atypical for MS: upper limb monoplegia without ipsilateral lower limb involvement, pleocytosis over 50 cells/μL, and class 3 cytological abnormality in cerebrospinal fluid. However, at autopsy following steroids and radiation therapy, there were no lymphoma-like lesions, such as mass effects, fused extensive lesions, masses on the skull dura mater, or high cell density lesions. Instead, there were only myelin losses corresponding to the MRI lesions, highlighting the potential for contamination by other diseases in steroid-modified Marburg's variant of multiple sclerosis, possibly due to lymphoma, even at autopsy.

Intravenous thrombolysis (IVT) with tenecteplase or alteplase is the standard of care in, patients with Acute Ischemic Stroke (AIS) presenting within 3–4.5 h. However here, are no established guidelines for such treatment during pregnancy. We report a case, of AIS in third trimester of pregnancy successfully treated with Tenecteplase. To the, best of our knowledge, this is the first and only case of acute ischemic stroke in, pregnancy treated with Tenecteplase.

Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. We aim to explore community perceptions of endocrine related complications in patients with DMD, assess current level of understanding, and desire for further education. A 31-item online survey was sent through Parent Project to Muscular Dystrophy (PPMD) to Duchenne Registry members to be completed by patients or their caretakers. Response rate was 55% (n = 75). Steroids were taken by 93%, but only 50% were followed by endocrinology and 21% report never been seen by endocrinology. Bone health was discussed with 87% of patients and 60% were diagnosed with osteoporosis. Delayed puberty was discussed with 41% of patients with 23% receiving testosterone therapy. About half the patients reported a diagnosis of slowed growth. Only 51% of the participants recalled discussing adrenal insufficiency. Obesity was discussed with 59% of participants. Families felt education about steroid-induced endocrinopathies to be very or extremely important and prefer to discuss about this at the beginning of their steroid therapy. This demonstrates significant gaps in education and access to endocrine care in patients with DMD.

Background

Omalizumab is an established therapy for allergic conditions, yet its neurological effects remain underexplored compared to other biological agents.

Case description

A 45-year-old male with asthma developed acute quadriparesis one week after receiving the first dose of omalizumab. Electrophysiological studies have shown partial motor conduction block in multiple nerves, with reduced CMAP amplitudes and absent F-waves in others. CSF showed cyto-albuminous dissociation. The diagnosis was a variant of Guillain-Barré syndrome. Despite intravenous immunoglobulin (IVIG) therapy, the patient experienced persistent neuropathic symptoms.

Discussion

The patient presented with acute quadriparesis devoid of sensory or cranial nerve involvement, suggestive of a variant of Guillain-Barré syndrome (GBS) known as acute motor conduction block neuropathy (AMCBN). Electrophysiological studies have indicated conduction block without demyelination, implicating axonal degeneration. Despite negative findings for common etiologies, the temporal association between omalizumab administration and symptom onset suggests a potential link, supported by criteria for drug-induced illness. Conflicting evidence exists regarding omalizumab's neurological effects, with proposed mechanisms including autoimmune reactions and mast cell dysfunction. Comparisons to TNF-α antagonists highlight similar neuropathy patterns, indicating a need for further research to clarify omalizumab's neurotoxicity.

Conclusion

In conclusion, while omalizumab holds promise for allergic conditions, including chronic urticaria, its potential impact on peripheral nerves necessitates vigilance among clinicians. Further studies are imperative to ascertain the risk-benefit profile and elucidate underlying mechanisms and risk factors of neurological complications associated with omalizumab therapy.

Background

Patients with multiple sclerosis (MS) are at higher risk of having infections due to receiving disease modifying therapies. The current study was conducted among Iranian MS patients who had experienced at least one episode of COVID-19 infection in order to evaluate the effects of COVID-19 vaccination on symptoms of their infection. Data on demographic information, MS characteristics, COVID-19 infection details, and vaccination status were collected. Statistical analyses, were performed to evaluate the association between vaccination and symptoms of COVID-19 infection.

Methods

This cross-sectional study was conducted on confirmed MS patients. Demographic data and COVID-19 related symptoms were gathered via an online questionnaire. Confirmation of patients' who declared to be vaccinated was checked by their COVID-19 vaccination card.

Results

A total of 236 MS patients participated in the study. The majority were female (79.7%), with a mean age of 36.1 ± 7.9 years. Among the participants, 72.5% had received the COVID-19 vaccine before their first episode of COVID-19 infection. The analysis showed a significant difference in the incidence of respiratory symptoms (P-value: 0.01) and headache (P-value: 0.04) between vaccinated and non-vaccinated individuals. Logistic regression analysis revealed that vaccinated MS patients had lower odds of developing respiratory symptoms (OR:0.29, 95% CI: 0.16 to 0.53, P-value<0.001) or headache (OR: 0.50, 95% CI: 0.25 to 0.98, P-value: 0.04) during their next COVID-19 infection episode. Moreover, MS patients who were receiving immunosuppressive drugs were less likely to have respiratory symptoms (OR:0.35, 95% CI: 0.16 to 0.77, P-value:0.009) but not headache (OR: 0.69, 95% CI: 0.30 to 1.60, P-value: 0.39).

Conclusion

COVID-19 vaccination can reduce the incidence of respiratory symptoms and headaches in MS patients during COVID-19 infection episodes. Additionally, patients who are receiving immunosuppressive drugs may benefit from COVID-19 vaccination.

Some patients with primary progressive aphasia (PPA) demonstrate only anomia. The lack of longitudinal observations of anomic PPA precluded us from determining whether progressive anomic aphasia was simply an early stage of semantic or logopenic variants, or a relatively independent variant. Herein, we report the 10-year clinical course of a patient with PPA who presented with pure anomic aphasia for 9 years. He is a right-handed man with anomia, who noticed word-finding difficulty at age 73. He was admitted to the hospital at age 77. On admission, the patient showed pure anomic aphasia with preserved other language function. Episodic memory and visuospatial function were preserved. Magnetic resonance imaging (MRI) revealed left temporal lobe atrophy. At 82 years of age, the patient presented with pure anomic aphasia. At 83 years old, he showed mild impairment in word comprehension and semantic memory, in addition to anomia. MRI demonstrated further atrophy in the bilateral anterior temporal lobes, predominantly on the left side. This case suggests the possibility of slowly progressive, late-onset anomic PPA, which could be differentiated from the early stage of semantic or logopenic variants.

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the SPAST gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.

Background

Intractable hiccups, persisting beyond 48 h, pose a clinical challenge, particularly in demyelinating diseases like Neuromyelitis Optica (NMO) and Multiple Sclerosis (MS). Understanding the complex neural pathways of the hiccup reflex and the impact of high-dose steroid therapy is crucial for managing this rare but distressing symptom. The hiccup reflex involves afferents from the vagus, phrenic, and sympathetic nerves, with the reflex center in the anterior horns at the C3 to 5 level and the medulla oblongata. The potential interplay between demyelination and corticosteroid therapy in triggering persistent hiccups requires exploration.

Case report

This case report details a 21-year-old male with undiagnosed demyelinating disorder, presenting persistent hiccups following high-dose steroid therapy for an acute disease flare. The patient's history included vertigo and progressive neurological symptoms, leading to an MS diagnosis with significant brain and spinal lesions. Persistent hiccups, initiated by steroid administration, were recurrent but responsive to metoclopramide after other measures failed.

Discussion

The discussion centers on investigating the cause of hiccups in a patient with demyelination following steroid administration. Steroids' impact on neurological systems, including neurotransmitter function, and the potential disruption of neurological pathways due to demyelination may contribute to hiccups. Successful hiccup resolution with metoclopramide suggests a potential pharmacological approach for corticosteroid-induced hiccups in demyelinating diseases. This case emphasizes the need for further research into the intricate relationship between demyelination, steroid therapy, and hiccups to enhance management strategies for this uncommon yet impactful symptom.

Background and aims

Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system.

Case report

64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes. Examination showed left oculomotor (internal and external ophthalmoplegia), with trochlear, abducens, and right partial oculomotor and abducens nerve involvement. Evaluation showed anemia of hemoglobin 10.7 g/dL, raised erythrocyte sedimentation rate of 120 mm/h and plasma albumin:globulin reversal. Serum protein electrophoresis showed a paraprotein peak in the early gamma region with elevated IgM level (3810 mg/dL) and elevated free kappa light chain level (70.1 mg/L). Bone marrow aspiration from posterior iliac crest revealed mature small lymphocytes with positive immunohistochemical markers of CD5, CD10 negativity and MYD88 mutation positivity suggestive of WM. Patient was treated with bendamustine and rituximab regimen, with no neurological improvement at the end of one year.

Conclusion

This case expands spectrum of paraproteinemic neuropathy to include cranial nerve palsy. Thus, plasma cell dyscrasias have to be considered in patients with isolated ophthalmoparesis especially in elderly patients, even with other comorbidities such as diabetes mellitus.