Background
Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) is an inflammatory disorder of the central nervous system. Here, we are the first to report a MOGAD patient with ...hypersomnolence caused by bilateral hypothalamic lesions.
Case presentation
The case involved a 51‐year‐old female patient with MOGAD who showed hypersomnolence. She had been diagnosed with MOGAD at 50 years old and admitted due to the development of optic neuritis and encephalitis while under corticosteroid and immunosuppressant treatment. These were improved after the introduction of intravenous methylprednisolone and plasma exchange. The orexin level in the cerebrospinal fluid (CSF) was decreased to 142.2 pg/mL (<200 pg/mL) upon admission and improved to a normal level (298.3 pg/mL) after immunotherapy. Bilateral hypothalamic lesions and reduction of the orexin level in the CSF were considered associated with hypersomnia.
Conclusion
The orexin level in CSF was useful to monitor hypothalamic dysfunction in a patient with MOGAD.
Abstract
Background
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common ...cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in
PABPN1
gene.
Case presentation
A 78-year-old woman presented with ptosis and gradually progressive dysphagia. Her son had the same symptoms. A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. Needle-electromyography (EMG) of bulbar and facial muscles revealed a myopathic pattern. Based on the characteristic muscle involvement pattern and needle-EMG findings, we suspected that the patient had OPMD. Gene analysis revealed
PABPN1
c.35G > C point mutation, which mimicked the effect of a common causative repeat expansion mutation of OPMD.
Conclusion
We herein describe the first reported Japanese case of OPMD with
PABPN1
point mutation, suggesting that this mutation is causative in Asians as well as in Europeans, in whom it was originally reported.
Background and Purpose Patients with acute aortic dissection (AAD) sometimes present predominantly with neurological symptoms from cerebral ischemia. Such stroke patients must not receive ...thrombolysis therapy, which can be fatal. However, patients remain at risk if there is a failure to notice concurrent AAD. We aimed to clarify the characteristics of AAD patients with stroke to identify markers for early AAD detection before thrombolysis. Methods Using the single-center database of Stanford type A-AAD patients between 2007 and 2013, we selected those presenting with acute focal neurological deficits, presumably due to cerebral ischemia. Results of physical, radiological, and blood examinations were assessed in AAD patients with stroke. Results Of 226 AAD patients, 23 (10%) had stroke secondary to AAD. Of the 23 patients, 21 (91%) were primarily examined by stroke physicians and 2 (9%) by cardiologists. Thirteen patients (57%) were potential candidates for intravenous thrombolysis. Only 11 patients (48%) complained of chest/back pain. Positive findings indicating AAD included occlusion or intimal flap of the common carotid artery on carotid ultrasound in 18 (90%) of 20 patients, elevated serum d -dimer values (≥6.9 µg/mL) in 18 (78%) of 23, left hemiparesis as a neurological symptom in 17 (74%) of 23, systolic blood pressure differential above 20 mmHg between the arms in 15 (71%) of 21 patients, and mediastinal widening on chest radiograph in 10 (67%) of 15 patients. All 14 patients who underwent complete evaluation showed 2 or more positive diagnostic findings. Conclusions The combination of physical, radiological, and laboratory findings may be a useful rapid-screening method for AAD as a cause of acute ischemic stroke.
Background
Anti‐N‐methyl‐d‐aspartate receptor (NMDAR) encephalitis is a severe form of limbic encephalitis. Some patients with anti‐NMDAR encephalitis do not respond to standard immunotherapy, ...resulting in poor outcomes.
Case presentation
We report an 18‐year‐old female patient with anti‐NMDAR encephalitis, without a tumor, who showed a marked response to cyclophosphamide. She was admitted due to a 1‐month history of headache, psychiatric symptoms, and consciousness disturbance. Despite administering first‐line immunotherapy, including steroid pulse, intravenous immunoglobulin, and plasma exchange, she developed orofacial dyskinesia, central hypoventilation, and status epilepticus. Involuntary movements and seizure began to decrease only after the administration of cyclophosphamide (CPM), and she showed gradual improvement over the next 5 years. In addition, significant recovery from brain atrophy was observed on follow‐up MRI.
Conclusions
Cyclophosphamide should be considered for nonresponders to first‐line immunotherapy.
We report an 18‐year‐old female patient with anti‐NMDAR encephalitis, who showed a marked response to cyclophosphamide (CPM). Significant recovery from brain atrophy was observed on follow‐up MRI parallel with neurological improvement over 5 years after CPM.
Backgrounds and Purpose: Neurological worsening often occurs in patients with acute perforating artery infarction including branch atheromatous disease (BAD) against antithrombotic therapies, leading ...to poor functional outcomes. However, the effective antithrombotic therapy has not been established. The purpose of our study was to clarify acute treatment strategies for perforating artery infarction at primary stroke centers (PSCs) in Japan. Methods: We conducted a web survey at 500 PSCs. We provided clinical information and DWI images of different perforating artery infarction cases such as lacunar stroke and BAD and asked acute treatment strategies in each case. Results: The response rate from PSCs was 38%. In cases with NIHSS 3 and 6 hours after stroke onset, dual antiplatelet therapy (aspirin+clopidogrel) was selected only in about 10% as initial treatments in BAD cases, whereas a combination therapy of 2 or more antiplatelets plus anticoagulants (mainly argatroban) was selected in about 70% of BAD cases and in 25% of lacunar stroke cases. A further antithrombotic agent was added on neurological worsening in approximately half of PSCs, which selected 2 or more antiplatelets plus anticoagulants for BAD cases. In a BAD case with NIHSS 6 and 2 hours of stroke onset, intravenous tPA was selected in 87%. At early neurological worsening after thrombolysis, 35% of PSCs answered that they initiated antithrombotic agents within 24 hours after thrombolysis. Conclusion: At most of PSCs in Japan, more aggressive antithrombotic therapies beyond current stroke treatment guideline may be conducted, especially for BAD.
Background and Purpose: Off-label underdosing and poor adherence to medication have been pointed out as causes of ischemic stroke in patients taking direct-acting oral anticoagulants (DOACs). ...However, ischemic stroke may occur even in patients with on-label appropriate dosing and good adherence. The aim of this study was to determine the clinical features of ischemic stroke in patients with on-label appropriate dosing and good adherence to DOACs. Methods: Of 2,186 consecutive patients with acute ischemic stroke admitted within 7 days of onset between April 2014 and March 2020, 126 patients with non-valvular atrial fibrillation (NVAF) who developed ischemic stroke despite taking DOACs were studied. Patients were classified into two groups: the appropriate DOAC group (on-label appropriate dosing and good adherence) and the insufficient DOAC group (off-label underdosing or poor adherence). The frequency of embolic sources other than NVAF was compared between the appropriate DOAC group and NVAF patients without anticoagulants (no anticoagulant group). Results: Sixty-four patients were in the appropriate DOAC group and had more potential embolic sources other than NVAF compared to those in the no anticoagulant group (40.6% vs. 18.6%, p=0.0002). Conclusion: In NVAF patients, potential embolic sources other than NVAF may underlie the pathogenesis of ischemic stroke despite taking DOACs with on-label appropriate dosing and good adherence.
Background and Purpose: Although the proportion of good outcomes has increased with the development of acute reperfusion therapy in patients with ischemic stroke, not a few patients still have poor ...outcomes. The purpose of this study was to determine whether poor outcomes can be predicted in ischemic stroke patients by information available at the time of emergency arrival. Methods: Using a prospective, follow-up study of patients with ischemic stroke or transient ischemic attack who were admitted within 7 days of onset between April 2014 and December 2019 (n=2,144), age, sex, premorbid modified Rankin scale (mRS) score, and National Institutes of Health Stroke Scale (NIHSS) score on admission were assessed as predictors of a poor outcome (90-day mRS score 5 or 6). A factor or combination of factors that predicted a poor outcome in more than 80% was defined as a poor prognosis profile (PPP). Results: After excluding those with a premorbid mRS score of 5 and failure to complete follow-up, 2,106 patients (median 77 years, male 58%) were studied. A total of 289 (14%) patients had poor outcomes. On multivariate analysis, age (per 10-year increase, OR 1.8, 95% CI 1.5–2.1), premorbid mRS score (1.3, 1.2–1.5), and NIHSS score (per 5-point increase, 2.2, 2.0–2.4) were independently associated with a poor outcome. A combination of age 80 years or older and NIHSS score of 26 or more predicted a poor outcome in 84% of patients, corresponding to a PPP. Conclusion: Poor outcomes at 90 days can be predicted by age and the NIHSS score on admission.
Introduction: The aim of this study was to test the hypothesis that the attack interval of multiple transient ischemic attacks (TIAs) is correlated with the underlying pathogenesis of ischemia. ...Methods: Patients with multiple TIAs, defined as 2 or more motor deficits within 7 days, were studied. The attack interval between the last 2 episodes was classified into 3 groups: 2 episodes within an hour (Hour group), over hours within a day (Day group), and over days within a week (Week group). Patients with a lacunar syndrome, no cortical lesions, and no embolic sources were recognized as having a small vessel disease (SVD) etiology for their multiple events. Results: Of 312 TIA patients admitted over a 9-year period, 50 (37 males, 13 females, mean 67.6 years) had multiple TIAs. Twelve patients were classified as being within the Hour group, 23 within the Day group, and 15 within the Week group. Lacunar syndromes were observed in 30 (75%, 35%, and 67%), embolic sources were detected in 28 (25%, 65%, and 67%), and a high signal lesion on diffusion-weighted imaging was depicted in 30 (75%, 48%, and 67%) patients (18 cortical, 11 subcortical, and one cerebellar). Patients in the Hour group had a significantly higher prevalence of SVD etiology (75%) than those in the Day and Week groups (30%, p = 0.0165; 27%, p = 0.0213, respectively). Four patients had a subsequent stroke within 7 days. Conclusion: Attack intervals of multiple TIAs may be correlated with the underlying pathogenesis of ischemia. Two motor deficits within an hour are more likely to suggest a SVD etiology.
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