Neurolymphomatosis as primary presentation of extra-nodal NK/T-cell lymphoma, nasal type.

Neurolymphomatosis (NL) describes an infiltration of cranial and peripheral nerves by lymphoma cells, most frequently in non-Hodgkin B-cell lymphoma. This clinical entity is rare and poses a challenging diagnosis. We describe a case of a 64-year-old female patient with NL associated with extra-nodal NK/T-cell lymphoma (ENKTL), nasal type, presenting as a painful progressive mononeuropathy multiplex with an oral cavity lesion.

Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study.

Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits.

Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics.

Methods: This was a nationwide multicenter study.

Vascular White Matter Lesions in Young Adults: A Neurology Outpatient Clinic Registry.

Introduction: Although frequently assumed to be age-related changes, vascular white matter lesions (WML) are sometimes found in young adults. Etiology is usually attributed to sporadic small vessel disease; nevertheless, genetic disorders may also be implicated. We aimed to characterize the population of young adults with vascular WML in Neurology outpatient clinics.

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.

Background, Aims And Methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity.

Myasthenia Gravis Induced by Ipilimumab in a Patient With Metastatic Melanoma.

In daily clinical practice, there is a growing number of patients receiving new biological agents used in the treatment of malignancies. Ipilimumab is a fully humanized monoclonal antibody approved for patients with melanoma. It acts as an immune checkpoint inhibitor, binding and blocking cytotoxic T-lymphocyte antigen-4 in order to increase the antitumor immune response.

Recurrent Stroke in a Young Woman with a Single Pulmonary Arteriovenous Fistula: An Unusual Association.

Introduction: Cryptogenic stroke is present in about 40% of ischemic stroke patients. Extracardiac shunt related to pulmonary arteriovenous fistula (PAVF) could be a rare potential risk factor for embolic stroke. Most PAVFs are multiple, congenital, and associated with hereditary conditions.

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

Background And Purpose: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping.

[Cerebral death: from the fear of premature burial to the myth of the living donor].

Objective: To analyse the historical evolution of the clinical concept "brain death", and discuss the concepts: whole-brain death and brainstem death in clinical perspective.

Background: Taphophobia means the fear of premature burial. Its modern equivalent is the fear of organs harvested from a still living patient.