In recent years, electronic scooters (e-scooters) have gained popularity, whether for private use or as a publicly available transportation method. With the introduction of these vehicles, reports of e-scooter-related accidents have surged, sparking public debate and concern. The aim of this study was to analyze the epidemiological data, characteristics, and severity of traumatic brain injury (TBI) related to e-scooter accidents.
View Article and Find Full Text PDFObjective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.
Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21.
Objective: To determine whether the R183Q mutation is present in the cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.
Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.
Results: Low levels of the mutation were detected in the brain tissue of all 4 cases-ranging from 0.
Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). The severity of the phenotype depends on the level of mutation in brain tissue. Detecting and quantifying low-level somatic mosaic mutations is challenging.
View Article and Find Full Text PDFDravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus.
View Article and Find Full Text PDFJ Med Imaging Radiat Oncol
December 2016
Introduction: Gemistocytic astrocytoma is the second most common subtype of World Health Organization grade 2 astrocytoma, but has a worse prognosis than other grade 2 lesions. We aim to describe the MR imaging features of histopathologically proven gemistocytic tumours.
Methods: Ethics approval was obtained from both institutions.
Purpose: To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus and dystonia.
Methods: Family members underwent electroclinical phenotyping including review of EEGs and MRI. DNA from family members was genotyped using Illumina OmniExpress genotyping arrays.
Objective: To determine clinical and EEG features that might help identify patients with epilepsy harboring small, intrinsically epileptogenic, surgically treatable, bottom-of-sulcus dysplasias (BOSDs).
Methods: Retrospective review of clinical records, EEG, MRI, and histopathology in 32 patients with drug-resistant epilepsy and MRI-positive (72% 3.0 tesla), pathologically proven (type 2B cortical dysplasia) BOSDs operated at our centers during 2005-2013.
We report a 44-year-old with progressive quadriparesis due to a dumbbell malignant peripheral nerve sheath tumour (MPNST) of the second cervical nerve, 17 years after whole brain radiotherapy for a pineal germinoma. To our knowledge this is the first case of radiation induced high cervical MPNST arising from a benign neurofibroma.
View Article and Find Full Text PDFFocal cortical dysplasia is a common cortical malformation and an important cause of epilepsy. There is evidence for shared molecular mechanisms underlying cortical dysplasia, ganglioglioma, hemimegalencephaly, and dysembryoplastic neuroepithelial tumor. However, there are no familial reports of typical cortical dysplasia or co-occurrence of cortical dysplasia and related lesions within the same pedigree.
View Article and Find Full Text PDFCNS lymphoma involving the trigeminal nerve is a rare condition which presents as a cavernous sinus lesion. It may mimic the radiological appearance of other lesions, and biopsy is essential before considering empirical radiotherapy for lesions in this region. We report the radiological, histopathological and operative findings of a primary non Hodgkin B cell lymphoma involving the trigeminal nerve.
View Article and Find Full Text PDFPurpose: We aimed to assess long-term seizure outcome and risk factors for seizure recurrence in a cohort of patients who have undergone extratemporal resection for management of refractory seizures.
Methods: Eighty-one patients underwent extratemporal resection at Austin Health, Melbourne, Australia (1991-2004). Seizure recurrence was any postoperative disabling seizure (complex partial seizure [CPS] ± secondary generalization).
Glial tumors with oligodendroglial components are considered chemo-responsive. Forty newly diagnosed patients (11 anaplastic oligodendrogliomas [OD] and 29 anaplastic oligoastrocytomas [OA]) were enrolled into this multicenter, open-label, single-arm Phase II trial of first-line temozolomide (200 mg/m(2) on days 1-5 every 4 weeks for 6 cycles). The primary endpoint was 6-month progression-free survival (PFS) with response rate (RR), median PFS, and median overall survival (OS) as secondary endpoints.
View Article and Find Full Text PDFEpilepsy due to encephaloceles of the temporal pole may be an under recognized, treatable cause of refractory temporal lobe epilepsy (TLE). We describe three adult patients initially labeled "lesion negative" TLE. In all, video–electroencephalography (EEG) revealed ictal theta in the left temporal region and positron emission tomography (PET) showed temporal lobe hypometabolism, but neuropsychology revealed preserved verbal memory.
View Article and Find Full Text PDFWe report cerebral cystic meningioangiomatosis in a patient with neurofibromatosis type 2. An 18-year-old woman presented with progressive hemiparesis secondary to a meningioma at the foramen magnum. Her MR examination also demonstrated three small cortical and subcortical cystic lesions.
View Article and Find Full Text PDFAction myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three unrelated affected individuals and their relatives, we used homozygosity mapping with single-nucleotide polymorphism chips to localize AMRF.
View Article and Find Full Text PDFPrimary central nervous system lymphoma (PCNSL) can be associated with preceding demyelinating pseudotumoral brain lesions. The 'sentinel' demyelinating lesions recede spontaneously or with corticosteroid, and are followed by development of PCNSL typically within 12 months. This report describes a 29 year-old post-partum woman who developed PCNSL 4 years after a biopsy-proven pseudotumoral demyelinating episode.
View Article and Find Full Text PDFBackground: Metastases of systemic neoplasia to preexisting intracranial mass lesions are uncommon phenomena. Tumor-to-intracranial cavernoma metastases are even more unusual and rarely reported. We describe here a case of melanoma to intracranial cavernoma metastasis.
View Article and Find Full Text PDFObject: Resection of dysembryoplastic neuroepithelial tumor (DNET) is thought to result in favorable seizure outcome, but long-term follow-up data are scarce. The authors present a review of 18 patients who underwent surgical removal of a DNET: 12 via temporal lobectomy and six via lesionectomy.
Methods: The mean long-term follow up was 10.
In Parkinson's disease (PD), dopaminergic input to the caudate nucleus and a band of putaminal tissue abutting the external globus pallidus seems well preserved on immunohistochemical staining for the dopamine transporter. Counting of dopaminergic terminals showed that terminal density in these regions in PD was the same as that in controls, which indicates that input is truly preserved and not a consequence of a compensatory upregulation of metabolism in a reduced pool of surviving terminals. When the branching pattern of dopaminergic axons coursing through the globus pallidus was examined, we found no evidence for increased axonal sprouting in PD that might have contributed to preservation of dopaminergic input to the putamen or caudate nucleus.
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