eNeurologicalSci最新文献

Background

Many kinds of vaccines have been developed worldwide to bring the coronavirus disease 2019 (COVID-19) to an end. We report a case of recurrent orbital apex syndrome following the first and third doses of SARS-CoV-2 vaccination.

Case presentation

A 71-year-old woman presented with acute painless diplopia and visual disturbance for two days. She had received the first dose of the COVID-19 vaccine two weeks before. She showed decreased visual acuity and ophthalmoplegia in the right eye. An orbital magnetic resonance image (MRI) revealed a hyperintense lesion with enhanced bulging in the right cavernous sinus. Following the steroid pulse therapy, she fully recovered. However, six months after the first attack, painful ophthalmoplegia with decreased visual acuity recurred in her left eye after the booster vaccination for COVID-19. MRI also showed a well-enhanced hyperintense lesion in the left orbital apex. Fortunately, her visual acuity and ocular motility returned to normal after the steroid therapy.

Conclusions

Immunologic reactions from COVID-19 vaccines may cause multiple cranial neuropathies. Diverse individual immunologic states should be considered before any kind of vaccine.

Background

An encephalocele is a congenital neural tube defect that is estimated to have an incidence of 1–2 cases per 10,000 live births. There have been a few cases of double encephaloceles reported in the medical literature. We report an extremely rare case of double encephalocele with an atrial septal defect in Iraq.

Case presentation

A 2-month-old female infant presented with two swellings at the back of her head since birth. Her mother received poor prenatal care. The examination revealed a microcephaly head and two sacs in the occipital region, which were not connected and were covered completely by skin. The surgery includes a transverse incision, excision of both sacs with necrotic tissue, a duroplasty, and a water-tight dural closure. The operation proceeded without any neurological sequelae or cerebrospinal fluid leakage.

Conclusion

Double encephalocele is a congenital neural tube defect that is rarely discussed or reported in the medical literature. The management of this condition might be difficult because it requires a special approach for each patient. This case report from Iraq is used to raise awareness about this particular disorder and to motivate clinicians about the importance of early and appropriate management for such cases.

Background

Recently, an association between painful tonic spasms (PTS) and Neuromyelitis Optica Spectrum Disorder (NMOSD) was established.

Objective

To describe the clinical characteristics of PTS in NMOSD based on a video recording and to provide a literature review on the topic.

Methods

We report a case of a 38 years-old woman with a diagnosis of NMOSD and positive aquaporin-4 IgG antibody status who developed PTS five weeks after an episode of longitudinal extensive transverse myelitis (LETM).

Results

Repetitive, brief, and painful episodes of muscle contraction were observed on the patient's left hand, spreading to the left arm, and then extending to the four limbs. While pregabalin and topiramate had no influence on these episodes, the patient responded to carbamazepine (CBZ), without symptom recurrence after one year.

Conclusions

PTS in association with LETM can be considered typical for NMOSD. Although the exact mechanism is unknown, ephaptic transmission after spinal cord damage and excitatory soluble factors released during acute inflammation responses are sought to be involved. Symptomatic treatment with CBZ achieved remission of spams in our case.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) constitute the second most prevalent muscular dystrophy, with large deletions or duplications accounting for 66% of cases. No effective treatment exists for DMD/BMD. At present, genetic diagnosis serves as the foundation for gene therapy treatments. In this study, a comprehensive molecular investigation was conducted. The subjects diagnosed with DMD/BMD were initially examined using multiplex ligation-dependent probe amplification (MLPA) technology. The negative MLPA results were analyzed further using next-generation sequencing (NGS) technology. The MLPA detected 201 deletions (65.9%) and 20 duplications (6.6%) along the dystrophin gene among the 305 Iranian patients examined. The deletion of exon 52 in the amenable skipping subgroup was associated with an earlier onset age and a more severe phenotype. Twenty-one of the small mutations found in 58 MLPA-negative patients were novel. The most prevalent variants were nonsense variants (46.5%), frameshift variants (31%), splicing variants (6.9%), missense variants (10.4%), and synonymous mutations (5.1%). Our results demonstrate that MLPA and NGS can be effective diagnostic tools for very young patients with a single exon deletion.

Background

The relationship between abnormal cortical plasticity and parkinsonian symptoms remains unclear in Parkinson's disease (PD).

Objective

We studied the relationship between their symptoms and degree of Long-term potentiation (LTP)-like effects induced by quadripulse magnetic stimulation (QPS) over the primary motor cortex, which has a small inter-individual variability in humans.

Methods

Participants were 16 PD patients (drug-naïve or treated with L-DOPA monotherapy) and 13 healthy controls (HC). LTP-like effects by QPS were compared between three conditions (HC､PD with or without L-DOPA). In PD, correlation analyses were performed between clinical scores (MDS-UPDRS, MMSE and MoCA-J) and the degree of LTP-like effects induced by QPS.

Results

In PD, QPS-induced LTP-like effect was reduced and restored by L-DOPA. The degree of the LTP was negatively correlated with MDS-UPDRS Part I and III scores, but not with MMSE and MoCA-J. In the sub-scores, upper limb bradykinesia and rigidity showed a negative correlation with the LTP-like effect whereas the tremor had no correlation.

Conclusions

Our results suggest that motor cortical plasticity relate with mechanisms underlying bradykinesia and rigidity in the upper limb muscles. LTP induced by QPS may be used as an objective marker of parkinsonian symptoms.

Background and purpose

Olfactory dysfunction may be an early symptom of degenerative neurological disorders such as mild cognitive impairment (MCI), which may progress to cognitive decline and Alzheimer's disease (AD). We investigated the relationship between cognitive decline and olfactory dysfunction in healthy controls and patients with MCI or AD using the DEmentia Screening Kit (DESK), an olfactory identification assessment tool designed for Japanese populations.

Methods

In this multicenter, open-label, interventional study conducted from 16 September 2020 to 30 April 2021, participants underwent olfactory tests using the DESK tool. This included 10 odorants at two concentrations (weak/strong) including toothpaste, butter, and India ink.

Results

Among 223 participants, 100, 61, and 62 were healthy controls, MCI patients, and AD patients (mean ages, 57.4, 72.8, and 76.3 years; total DESK olfaction scores, 18.4, 14.7, and 7.4), respectively. Significant differences in total olfaction scores were observed between groups (healthy controls vs MCI, healthy controls vs AD, and MCI vs AD). Significant between-group total score differences were shown for olfaction scores with both the 10 strong and 10 weak odorant varieties.

Conclusion

The DESK tool may discriminate between healthy individuals and those with MCI or AD, facilitating early screening for cognitive decline among Japanese patients, although the effect of age on DESK olfaction scores has not been fully explored.

Primary headache disorders in particular migraine are one of the most common causes of disability worldwide. Given the high burden of migraine in terms of disability, there has been an effort to develop migraine specific therapies that has led to the availability of new drugs including 5HT_1F receptor agonists-ditans (lasmiditan), small molecule calcitonin gene-related peptide (CGRP) receptor antagonists-gepants: (ubrogepant, rimegepant, atogepant) and anti-CGRP monoclonal antibodies (erenumab, fremanezumab, galcanezumab and eptinezumab).

However, some of these treatments incur a high cost and may not be a feasible option for most patients in resource limited settings. Lasmiditan and the gepants are a good option for patients with moderate-severe migraine attacks who cannot use triptans due variously to poor tolerability, or cardio- or cerebrovascular disease. For practical purposes, the new anti-CGRP monoclonal antibodies are best reserved for patients who have failed to have efficacy or had intolerable side effects from multiple traditional oral preventives.

In autoimmune encephalitis, abnormalities of diffusion-weighted imaging (DWI), fluid-attenuated inversion recovery (FLAIR), arterial spin labeling (ASL) in magnetic resonance imaging (MRI), single-photon emission computed tomography (SPECT) and ¹⁸F-fluorodeoxyglucose-positron emission tomography (¹⁸F-FDG-PET) have been reported. However, there are few studies of long-term follow-up of imaging. We report a case of anti-leucine-rich glioma-inactivated 1 antibody encephalitis whose MRI (DWI, FLAIR and ASL), ^99mTcHM-PAO SPECT (PAO-SPECT) and ¹⁸F-FDG-PET were evaluated through the clinical course. ASL, PAO-SPECT and ¹⁸F-FDG-PET consistently showed abnormalities in almost the same area. Serial assessment of these imaging modalities is useful in evaluating disease activity and efficacy of treatment.

Background

The aim of this study was to measure serum brain injury biomarkers in patients with COVID-19 admitted to intensive care unit (ICU), without evidence of brain impairment, and to determine potential correlations with systemic inflammatory markers, illness severity, and outcome.

Methods

In patients admitted to the ICU with COVID-19, without clinical evidence of brain injury, blood S100 calcium-binding protein B (S100B), neuron-specific enolase (NSE) and interleukin-6 (IL-6) were measured on admission. Clinical, routine laboratory data and illness severity were recorded. Comparisons between 28-day survivors and non-survivors and correlations of neurological biomarkers to other laboratory data and illness severity, were analyzed.

Results

We included 50 patients, median age 64 [IQR 58–78] years, 39 (78%) males, 39 (78%) mechanically ventilated and 11 (22%) under high flow nasal oxygen treatment. S100B and NSE were increased in 19 (38%) and 45 (90%) patients, respectively. S100B was significantly elevated in non-survivors compared to survivors: 0.15 [0.10–0.29] versus 0.11 [0.07–0.17] μg/L, respectively, (p = 0.03), and significantly correlated with age, IL-6, arterial lactate, noradrenaline dose, illness severity and lymphocyte count. IL-6 was significantly correlated with C-reactive protein, noradrenaline dose and organ failure severity. NSE was correlated only with lactate dehydrogenase.

Conclusion

Brain injury biomarkers were frequently elevated in COVID-19 ICU patients, in the absence of clinical evidence of brain injury. S100B was significantly correlated with IL-6, low lymphocyte count, hypoperfusion indices, illness severity, and short-term outcome. These findings indicate a possible brain astrocytes and neurons involvement, also suggesting a broader role of S100B in systemic inflammatory response.