BACKGROUND Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS). OBJECTIVE To describe the clinical, morphologic, and genetic findings in 3 children with MPV17-related MDS from 2 unrelated families. DESIGN Case report. SETTING Academic research. MAIN OUTCOME MEASURES We identified 3 novel path...

Immune checkpoint inhibitors (ICIs) have transformed the prognosis of cancers previously considered lethal. The spectrum therapeutic indications is rapidly expanding, including vast majority thoracic malignancies. By enhancing immune responses against cancer, ICI treatments lead to development immune-related adverse events (irAEs) that may affect any organ. Severity varies from mild fatal clini...

The involvement of the central nervous system (CNS) in brucellosis is rare and has a broad range of presentations. Subacute and chronic meningoencephalitis are described as the most common neurologic manifestations. We report a six-year-old boy with culture-proven neurobrucellosis who presented with an acute picture of meningoencephalitis. Cerebrospinal fluid (CSF) analysis revealed pleocytosis...

The development and function of neuronal circuits within the brain are orchestrated by sophisticated gene regulatory mechanisms. Recently, microRNAs have emerged as a novel class of small RNAs that fine-tune protein synthesis. microRNAs are abundantly expressed in the vertebrate nervous system, where they contribute to the specification of neuronal cell identity. Moreover, microRNAs also play a...

The emotional and behavioral problems associated with pediatric multiple sclerosis remain unclear. Participants with pediatric multiple sclerosis or clinically isolated syndrome (n 1⁄4 140; ages 5-18 years) completed selfand parent ratings using the Behavioral Assessment System for Children, Second Edition, neurologic exam, the Fatigue Severity Scale, and neuropsychological assessment. Mean sel...

The authors report the case of a patient presenting with cutaneous, renal and neurologic vasculitis in the course of relapsing polychondritis (RPC). A 78-year-old man presented with a palpable purpura of the lower limbs, high fever arthralgias, delirium, and nephrotic syndrome. He had a history of relapsing polychondritis treated by corticosteroids. Renal biopsy showed diffuse endo- and extraca...

Carotid T occlusion (intracranial carotid bifurcation occlusion with involvement of A1 and M1 segments) is associated with poor outcome. In most cases, treatment with intraarterial thrombolysis within a 6-hour window has been unsuccessful. We describe the case of a 26-year-old woman who presented with severe neurologic deficits (National Institutes of Health Stroke Scale score of 23) secondary ...

Chorioretinal involvement, frequently asymptomatic and self-limited, is common in patients with West Nile virus (WNV) infection associated with neurologic illness. A bilateral multifocal chorioretinitis, with typical clinical and fluorescein angiographic features, is the most common finding, but numerous other ocular manifestations can occur. Diabetes mellitus appears to be a potential risk fac...

Background: The family of disorders associated with antibodies against neuronal surface antigens is a rapidly expanding category of autoimmune neurologic disease. Methods: Clinical and laboratory findings of a patient with voltage-gated Kv1 potassium channel (VGKC)-complex autoantibodies are reported and the literature is reviewed. Results: New-onset faciobrachial dystonic seizures, distal larg...

 Background: Stroke is the most common neurologic disease and an important cause of morbidity and mortality. Headache is an initial presenting feature of ischemic stroke and sometimes preceedes the development of stroke and thus, provides an opportunity for offering preventive measures. The aim of the present study was to determine the association of new onset headache with stroke. Methods...