Paradoxical symptomatic cerebral blood flow decreases after combined revascularization surgery for patients with pediatric moyamoya disease: illustrative case

BACKGROUND Transient neurological deficits (TNDs) develop after cerebral revascularization in patients with moyamoya disease (MMD). The authors report a rare pediatric MMD case with extensive decreased cerebral blood flow (CBF) and prolonged TNDs after combined revascularization. OBSERVATIONS A 9-year-old boy presented with transient left upper limb weakness, and MMD was diagnosed. A right-sided combined surgery was performed. Two years after the surgery, frequent but transient facial (right-sided) and upper limb weakness appeared. The left internal carotid artery terminal stenosis had progressed. Therefore, a left combined revascularization was performed. The patient’s motor aphasia and right upper limb weakness persisted for approximately 10 days after surgery. Magnetic resonance angiography showed that the direct bypass was patent, but extensive decreases in left CBF were observed using single photon emission tomography. With adequate fluid therapy and blood pressure control, the neurological symptoms eventually disappeared, and CBF improved. LESSONS The environment of cerebral hemodynamics is heterogeneous after cerebral revascularization for MMD, and the exact mechanism of CBF decreases was not identified. TNDs are significantly associated with the onset of stroke during the early postoperative period. Therefore, appropriate treatment is desired after determining complex cerebral hemodynamics using CBF studies.

Unilateral absence of internal carotid artery: A rare case report

Unilateral absence of internal carotid artery (ICA) is a rare congenital anomaly. We present the case of a 35-year-old man with episodes of recurrent strokes in the past and now presenting with right-sided upper limb weakness. Radiological diagnostic workup revealed a thin left ICA in the neck with non-visualization beyond petrous bone in the intracranial course. The ipsilateral brain parenchyma is supplied by vessels from the contralateral side of the Circle of Willis. As the patient had no evidence of a cerebrovascular accident on radiological evaluation and no neurological signs and symptoms, he was discharged with anticoagulant medications with the advice of follow-up. This is the first report to describe a case of ICA agenesis with a pattern of collateral circulation that doesn’t fit any of the six types described by Lie.

Bilateral thalamic infarction due to artery of Percheron occlusion: a case report

The artery of Percheron is a rare variant of the posterior cerebral circulation. It is characterised by a single arterial trunk that supplies blood to bilateral paramedian thalami and rostral midbrain. Its occlusion can have a very wide range of presentation, and initial imaging including CT of the head maybe normal. Diagnosis and eventual treatment is usually delayed. We describe the case of an elderly man who presented with loss of consciousness, aphasia, and bilateral lower limb weakness. He was diagnosed with bilateral thalamic infarction due to the occlusion of the artery of Percheron only after an MRI of the brain was performed. Despite treatment his symptoms did not resolve completely. Keywords: Thalamus/blood supply, Cerebral arteries, Magnetic Resonance Imaging.

Viral neuromyopathy associated with acute hepatitis B infection

Viral myositis is commonly seen with influenza and COVID-19 infections. While it has been described with acute viral hepatitis, concomitant involvement of the peripheral nerves causing a neuromyopathy has not been reported. A 67-year-old man with acute hepatitis B infection developed a severe myalgia and lower limb weakness around 1 month into his illness. Investigations revealed a neuromyopathy and rhabdomyolysis. MRI whole body with short tau inversion recovery sequences showed scattered muscle hyperintensities in the upper and lower limbs. He was treated with intravenous immunoglobulin and improved. This is the first report of an acute neuromyopathy associated with acute hepatitis B viral infection and demonstration of muscle MRI abnormalities in this condition.

Parkinson’s disease with concomitant generalized anxiety disorder – case report

Parkinson’s diseases, occuring most often between the ages of 50 and 60 years, on average at the age 58 years is a progressive degenerative disease of the central nervous system of global importance and serious consequences for public health. Its main symptoms are tremor at rest muscle stiffness and bradykinesia, i.e. slowness of movement (the so-called parkinsonian triad). Atrophic lessons of substantia nigra, located in the midbrain, responsible for the production of dopamine, contribute to the onset of symptoms of the disease. Patients with Parkinson’s diseases suffer from a variety of extra-motor symptoms often psychiatric disorders, especially panic or generalized anxiety. The author presents the case of 63 years old man diagnosed with Parkinson’s diseases 4 years ago, with quite a significant severity in the last 2 years. Left limb weakness (upper and lower) deepened and general slowing of movement developed then restless legs syndrome developed fully (specific sensations in the area of the feet and lower legs in the evening and night hours, temporarily decreasing when moving, walking, stretching the muscles). For about 6 months he have had attacks of anxiety and anxiety as well as a fully developed generalized anxiety disorder. The combination of levodopa and carbidopa and pregabalin was used, resulting in a reduction of slowness and stiffness as well as a significant reduction in anxiety and anxiety after approximately 8 weeks.

Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that causes systemic inflammation which can progress to multiorgan failure and death. Symptoms and signs commonly seen in HLH include high fever, hepatosplenomegaly, pancytopenia, and hypertriglyceridemia. This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness. A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. Therefore, a diagnosis of familial HLH type 2 with CNS involvement was confirmed. Accordingly, treatment with dexamethasone, cyclosporin, and etoposide in addition to intrathecal methotrexate and hydrocortisone was given. The patient showed a dramatic response with significant neurological improvement of the bilateral lower limb weakness. Genetic analysis has helped the patient’s family with appropriate genetic counselling. This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.

Factors Affecting Generalization of Ocular Myasthenia Gravis in Palembang

Introduction. Ocular myasthenia gravis (OMG) is an autoimmune disease which is characterized by weakness of extraocular muscles, levator palpebrae and orbicularis oculi, resulting in ptosis and binocular diplopia. Nearly all patients present with eyelid and extra ocular muscles involvement. Approximately 30% to 80% of patients with OMG experience a conversion to generalized myasthenia gravis (GMG) within 2 years. There are not only have ptosis and diplopia but also limb weakness,bulbar symptoms, or even respiratory failure. This study was aimed to observe the clinical features of OMG to GMG and risk factors and median time to conversion of OMG to GMG of myasthenia gravis patients in Mohammad Hoesin General Hospital Palembang. Method. This study is a cohort retrospective study and the data were collected from the medical records of 91 patients who were registered as myasthenia gravis patients during September 2018 to March 2020. Sosiodemographic and clinical characteristics, including onset of OMG to GMG, history of smoking, presence of thymic abnormalities, and medications received were reviewed retrospectively. Result. A total of 91 OMG patients were observed in this study with 32 (35,2%) patients converted from ocular myastenia gravis to general myastenia gravis. Median conversion time to GMG was 34 months. Risk factor for convertion cases of OMG to MGG was receiving immunosupressive agents (Risk: 14.7, 95% CI 4.83, 44.7), thymus hyperplasia (Risk: 3.36, CI 95% 0.33, 33.6), Female (Risk: 2.41, 95% CI 0.94, 6.17), Smoking (Risk: 1.56, 95% CI 0.31, 7.81). Conclusion. Ptosis was the definitive sign for OMG in this study, with all patients had ptosis, thus it needs the colaboration from neuroophthalmologist and neurologist to diagnose and manage this case. Most of converted case was female and those who receive an immunosupressive agent therapy.

Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Background and Objectives:The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS) is a clinical model that predicts the risk of walking inability in GBS patients, and was developed with data from Dutch patients. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region-specificity.Methods:We used prospective data from the first 1500 patients included in IGOS, aged ≥ 6 years and unable to walk independently. We evaluated if the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using two measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC), and (2) calibration: observed versus predicted probability of being unable to walk independently. To improve the model predictions we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors.Results:For validation of mEGOS at entry 809 patients were eligible (Europe/North America n=677, Asia n=76, other=56), and 671 for validation of mEGOS at week 1 (Europe/North America n=563, Asia n=65, other=43). AUC-values were >0.7 in all regional subgroups. In the Europe/North America subgroup observed outcomes were worse than predicted, while in Asia observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort.Discussion:The mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in GBS patients, also in countries outside The Netherlands. We developed a region-specific version of mEGOS for patients from Europe/North America.Classification of Evidence:This study provides Class II evidence that the mEGOS accurately predicts the inability to walk unaided at 4 and 26 weeks in GBS patients.ClinicalTrials.gov Identifier:NCT01582763

Clinical Reasoning: Longitudinally Extensive Spinal Cord Lesions in a Middle-aged Man

An immunocompetent 47-year-old man presented with a five-month history of progressive lower limb weakness, back pain, sphincter dysfunction, and intermittent fever, suggesting myelopathy in a chronic deteriorating course. A comprehensive analysis comprising of blood tests, neuroimaging, CSF profiling, molecular analysis, and histopathology was performed. Notably, enhanced spinal cord MRI revealed longitudinally extensive intradural-extramedullary lesions involving the cervical, thoracic, and lumbosacral spinal cord, with homogeneous enhancement and spinal cord compression. Serum TPHA and RPR tests were positive. CSF profiling showed pleocytosis, significant protein elevations, hypoglycorrhachia, and positive TPHA test. 18F-FDG-PET/CT indicated slightly increased intraspinal FDG uptake. Spinal cord biopsy further showed small round blue cells in poorly differentiated tissues. Immunostaining was positive for NKX2.2, CD56, CD99, Synaptophysin, and Ki67 (50%). Molecular analysis detected a novel MALAT-CYSLTR1 fusion protein and variants in oncogenic genes including PTCH1, TERT, CREBBP, SPEN, and STK11. The diagnosis of intraspinal extraosseous Ewing’s sarcoma (ES) was confirmed. Briefly, our case details the diagnosis of a patient with intradural-extramedullary ES and highlights the value of spinal cord biopsy in progressive myelopathy of unknown causes.

Intravenous Thrombolysis After Reversal of Dabigatran With Idarucizumab in Acute Ischemic Stroke: A Case Report

Background: As there is a growing concern about the cerebral embolism events secondary to non-valvular atrial fibrillation (NVAF), novel oral anticoagulant (NOAC) has been more and more widely used as an anticoagulation treatment for the prevention of stroke. However, in the face of life-threatening bleeding or emergency surgery/treatment, NOAC-related antagonists such as idarucizumab need to be urgently used to reverse the NOAC. Using recombinant tissue plasminogen activator (rt-PA) intravenous thrombolysis for acute ischemic stroke requires a time window of 4.5 h. This case reports rt-PA intravenous thrombolysis after reversal of dabigatran anticoagulation with idarucizumab in patients with acute ischemic stroke.Case Presentation: We report the case of 62-year-old Chinese female with NVAF treated with dabigatran 110 mg twice daily, and missed a dose on the eve of the stroke. The patient presented with acute ischemic stroke causing the angle of mouth deviated to right side and left limb weakness in the early morning of the next day. However, the last dosing time of dabigatran was between 24 and 48 h, the patients were given rt-PA intravenous thrombolysis after reversal of dabigatran anticoagulation with idarucizumab, while any potential relative contraindication had been excluded by means of laboratory test and CT scan in the hospitalization services. National Institute of Health stroke scale (NIHSS) score was reduced from 4 to 1, and the patient was discharged after 2 weeks.Conclusion: Our case report adds to the evidence that idarucizumab administration is safe and effective in the setting of patients with atrial fibrillation treated with dabigatran who develop acute ischemic stroke requiring rt-PA intravenous thrombolysis.