Individual Magnetoencephalography Response Profiles to Short-Duration L-Dopa in Parkinson's Disease.

Clinical responses to dopamine replacement therapy for individuals with Parkinson's disease (PD) are often difficult to predict. We characterized changes in MDS-UPDRS motor factor scores resulting from a short-duration L-Dopa response (SDR), and investigated how the inter-subject clinical differences could be predicted from motor cortical magnetoencephalography (MEG). MDS-UPDRS motor factor scores and resting-state MEG recordings were collected during SDR from twenty individuals with a PD diagnosis. We used a novel subject-specific strategy based on linear support vector machines to quantify motor cortical oscillatory frequency profiles that best predicted medication state. Motor cortical profiles differed substantially across individuals and showed consistency across multiple data folds. There was a linear relationship between classification accuracy and SDR of lower limb bradykinesia, although this relationship did not persist after multiple comparison correction, suggesting that combinations of spectral power features alone are insufficient to predict clinical state. Factor score analysis of therapeutic response and novel subject-specific machine learning approaches based on subject-specific neuroimaging provide tools to predict outcomes of therapies for PD.

Malignant idiopathic intracranial hypertension revealed a hidden primary spinal leptomeningeal medulloblastoma.

Frequently the cause of raised intracranial pressure remains unresolved and rarely is related to spinal tumours, moreover less to spinal medulloblastoma without primary brain focus. An 18-year-old woman had a 3-month history of headache and impaired vision. Neurological examination revealed bilateral sixth cranial nerve palsies with bilateral papilloedema of grade III. No focal brain or spine lesion was found on imaging. Consecutive lumbar punctures showed high opening pressure and subsequent increasing protein level. Meningeal biopsy was negative. At one point, she developed an increasing headache, vomiting and back pain. Spine MRI showed diffuse nodular leptomeningeal enhancement with the largest nodule at T6-T7. Malignant cells were detected in cerebrospinal fluid. She underwent laminectomy with excisional biopsy, and pathology showed medulloblastoma WHO grade IV. She was treated with chemotherapy and craniospinal irradiation and made a good recovery.

Prevalence of Pediatric Onset Multiple Sclerosis in Saudi Arabia.

BACKGROUND: The prevalence of multiple sclerosis (MS) appears to be increasing worldwide. However, data on the pediatric onset of MS is lacking, particularly in developing countries. OBJECTIVE: This study is aimed at reporting the current burden of the pediatric onset of MS in the five regions of Saudi Arabia. METHODS: This study used relevant data from the National Saudi MS Registry that was operational between 2015 and 2018. The data on patients with pediatric onset MS from all the hospitals included in the registry was retrospectively analyzed using the age of diagnosis. Patients who were 1-18 years old when diagnosed were included in the analysis. RESULTS: The registry included 287 patients with pediatric onset MS, with a mean age of diagnosis at 15.7 (SD: 2.06). 74.2% of the participants were females. For the included hospitals, the estimated prevalence of pediatric MS was at 2.73/100,000 pediatric Saudi population. The prevalence of pediatric MS in the remaining nonparticipant hospitals was then projected taking into account both the size of pediatric population in the Kingdom per region and the number of facilities treating and managing MS in each of the corresponding regions. The overall projected prevalence was found to be 14.33/100,000 Saudi pediatric population. CONCLUSION: To the best of our knowledge, this study reported the latest epidemiological data of pediatric onset of MS in Saudi Arabia. The current prevalence of MS among the pediatric Saudi population was found to be 2.73/100,000, and the overall projected prevalence was estimated at 14.33/100,000. Our findings were similar to those in other pediatric MS cohorts. Further studies are needed to understand the long-term prognosis, response to treatment, and disease course.

Neuromyelitis optica spectrum disorders in Arabian Gulf (NMOAG); establishment and initial characterization of a patient registry.

OBJECTIVE: To describe the clinical and radiological characteristics of neuromyelitis optica spectrum disorders (NMOSD) patients from the Arabian Gulf relative to anti-aquaporin 4 antibody serostatus. METHODS: Retrospective multicentre study of hospital records of patients diagnosed with NMOSD based on 2015 International Panel on NMOSD Diagnosis (IPND) consensus criteria. RESULTS: One hundred forty four patients were evaluated, 64.3% were anti-AQP4 antibody positive. Mean age at onset and disease duration were 31±12 and 7 ±â€¯6 years respectively. Patients were predominantly female (4.7:1). Overall; relapsing course (80%) was more common than monophasic (20%). Optic neuritis was the most frequent presentation (48.6%), regardless of serostatus. The proportion of patients (54.3%) with visual acuity of ≤ 0.1 was higher in the seropositive group (p = 0.018). Primary presenting symptoms of transverse myelitis (TM) were observed in 29% of patients, and were the most significant correlate of hospitalization (p<0.001). Relative to anti-APQ4 serostatus, there were no significant differences in terms of age of onset, course, relapse rates or efficacy outcomes except for oligoclonal bands (OCB), which were more often present in seronegative patients (40% vs.22.5%; p = 0.054). Irrespective of serostatus, several disease modifying therapies were instituted including steroids or immunosuppressives, mostly, rituximab and azathioprine in the cohort irrespective of serostatus. The use of rituximab resulted in reduction in disease activity. CONCLUSION: This is the first descriptive NMOSD cohort in the Arabian Gulf region. Seropositive patients were more prevalent with female predominance. Relapsing course was more common than monophasic. However, anti-AQP4 serostatus did not impact disease duration, relapse rate or therapeutic effectiveness. These findings offer new insights into natural history of NMOSD in patients of the Arabian Gulf and allow comparison with patient populations in different World regions.

Transient Periictal Brain Imaging Abnormality in a Saudi Patient with Probable Celiac Disease Epilepsy and Occipital Calcification Syndrome.

Celiac disease epilepsy and occipital calcification (CEC) syndrome is a rare, emerging disease first described in 1992. To date, fewer than 200 cases have been reported worldwide. CEC syndrome is generally thought to be a genetic, noninherited, and ethnically and geographically restricted disease in Mediterranean countries. However, we report the first ever case of probable CEC in a Saudi patient. Furthermore, the patient manifested a magnitude of brain magnetic resonance imaging (MRI) signal abnormalities during the periictal period which, to the best of our knowledge, has never been described in CEC. The brain MRI revealed diffusion-weighted imaging (DWI) restriction with a concordant area of apparent diffusion coefficient (ADC) hypointensity around bilateral occipital area of calcification. An imbalance between the heightened energy demand during ictal phase of the seizure and unadjusted blood supply may have caused an electric pump failure and cytotoxic edema, which then led to DWI/ADC signal alteration.

Favorable Response to Mirtazapine in John Cunningham Virus-related Gray Matter Lesion in a Patient with Human Immunodeficiency Virus.

Mirtazapine has recently emerged as a promising agent for the treatment of progressive multifocal leukoencephalopathy (PML). While there is no Class I evidence for its use, numerous case reports have illustrated mirtazapine's efficacy. True to its name, PML is known to occur mostly in the white matter of the brain as its causative agent, John Cunningham virus (JC virus), has a predilection for infecting glial cells. The virus replicates vigorously in oligodendrocytes and causes lysis of the glial cell culminating in demyelination. Therefore, gray matter involvement is rare. Mirtazapine's 5HT2A receptor blocking capacity is presumed to hinder JC virus' entry into glial cells. We report a case of a patient with human immunodeficiency virus (HIV) with predominantly gray matter lesions from JC virus reactivation. This case is the first reported case of gray matter PML in an Arabic patient who responded favorably to mirtazapine therapy.

Discovery of familial cerebral cavernous malformation in a Saudi population.

Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1/CCM1 might be the possible target gene that is mutated in this region.

Brake fluid toxicity feigning brain death.

Brake fluid (glycol-based) toxicity is known to have a protean of central and peripheral nervous system manifestations. The principal component of this household poison is ethylene glycol. Toxic effect is generally attributed to peri-vascular deposition of calcium oxalate crystals in various tissues. However, clinical features resembling brain death have rarely been reported. We report a case of brake fluid toxicity simulating brain death in a 21-year-old healthy man who ingested it as a recreational agent.

Analysis of causes of mortality in patients with autosomal dominant polycystic kidney disease: a single center study.

This study was aimed at determining the median survival and most frequent causes of death in patients with the autosomal dominant polycystic kidney disease (ADPKD). A retrospective, observational analysis was made on patients registered with a diagnosis of ADPKD, in the computer records of the Sheffield Kidney Institute (SKI), United Kingdom, during the years 1981 to 1999. Data on 363 patients were analyzed from these computer records and further information, if any, was obtained from the patients' clinical notes. During this period, 88 patients died. The median age of the patients who died was 60.5 years, with the youngest being 37 years old and the oldest being 82 years. The major causes of death in this study group were cardiovascular (46.6%), infection (15.9%), central nervous system (CNS) disorders (11.36%), and miscellaneous causes (11.36%). Our study suggests that the major cause of death in patients with ADPKD was cardiovascular followed by infection, of which 42% of the deaths were due to septicemia. CNS causes of death comprised 11.36% of whom 60% had cerebrovascular events including subarachnoid hemorrhage in 20% of the patients. Uremia was the cause of death in only 2.2% of the patients in this series.