Dyke-Davidoff-Masson Syndrome (DDMS) is a rare condition usually diagnosed in paediatric patients with clinical features of hemiparesis, seizures, mental retardation and contralateral cerebral hemiatrophy on neuroimaging. This report follows the case of a 22-year-old man presenting with seizures and hemiatrophy and hemiparesis. On review of cases the most common neuroimaging findings were cerebral hemiatrophy (100%) followed by hemicalvarial thickening (71.4%) and hyperpneumatisation of sinuses (71.4%). Apart from our patient, all nine cases with data on epilepsy control had drug-resistant epilepsy. The onset of seizures in adulthood, block vertebra, short stature, absence of mental retardation and well-controlled epilepsy on monotherapy makes our case exceptional-even bringing to mind the possibility of a DDMS variant. This report exhaustively reviews the wide range of clinical and radiological manifestations of DDMS in the adult, thereby adding to the literature on an unusual syndrome that causes significant neurological morbidity.
Cor triatriatum sinistrum (CTS) is a congenital anomaly where the left atrium is divided into two compartments by a fibromuscular membrane. This report aims to add to the literature on a rare cardiac condition that can cause neurological morbidity. We report a case of a 19-year-old female with an infarct in the right middle cerebral artery (MCA) territory initially maintained on aspirin. Eighteen months later, she had recurrence of weakness, for which repeat transthoracic echocardiography (TTE) and re-evaluation of the first TTE demonstrated a hyperechoic membrane spanning the width of the left atrium, clinching the diagnosis of CTS. Despite anticoagulation with apixaban, she was admitted for a third stroke where she succumbed to hospital-acquired pneumonia. Among cases of CTS associated with stroke, anticoagulation and surgery were the main modes of treatment. This case has the longest follow-up and the first to demonstrate failure of antiplatelet therapy and anticoagulation.
Distinct genetic alterations determine glioma aggressiveness, however the diversity of somatic mutations contributing to peritumoral hyperexcitability and seizures is uncertain. In a large cohort of patients with sequenced gliomas (n=1716), we used discriminant analysis models to identify somatic mutation variants associated with electrographic hyperexcitability in a subset with continuous EEG recording (n=206). Overall tumor mutational burdens were similar between patients with and without hyperexcitability. A cross-validated model trained exclusively on somatic mutations classified the presence or absence of hyperexcitability with an overall accuracy of 70.9%, and improved estimates of hyperexcitability and anti-seizure medication failure in multivariate analysis incorporating traditional demographic factors and tumor molecular classifications. Somatic mutation variants of interest were also over-represented in patients with hyperexcitability compared to internal and external reference cohorts. These findings implicate diverse mutations in cancer genes associated with the development of hyperexcitability and response to treatment.
A 30-year-old man presented with a single unprovoked convulsion and a 5-year history of recurrent, severe right-sided flank pain of unclear etiology. Workup over the course of his presentation included multiple subspecialist evaluations, including emergency room visits to rule out nephrolithiasis. Other differentials included dystonia, radiculopathy, and musculoskeletal pathology.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.