Introduction: Magnetic resonance imaging (MRI) plays a critical role in diagnosing and monitoring people with multiple sclerosis (MS). The 2020 Portuguese Consensus on Magnetic Resonance Imaging in Multiple Sclerosis aimed to standardize MRI use. This study evaluated the implementation of the consensus in clinical practice.Methods: This is an observational, retrospective, longitudinal and multicentric study com...
Increasing knowledge about neuro-inflammatory conditions as lead to new challenges in establishing a diagnosis. Clinical distinctive features might help. We present a 34-year-old patient with bilateral internuclear ophthalmoplegia (bINO). Investigation was compatible with demyelinating central nervous system (CNS) disease. Low-positive IgG myelin oligodendrocyte glycoprotein (MOG) antibodies were found. Rituxim...
B-cell chronic lymphocytic leukemia (CLL-B) is the commonest adult-onset leukemia. Although extra-medullary disease has been reported, neurological consequences are seldom a concern. We aim to report an unusual case of a 66 years-old woman who developed subacute paraparesis due to dorsal (D2-D6) spinal cord compression by an extradural CLL mass, 2 years after CLL diagnosis.; A leucemia linfocítica crónica tipo ...
Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) is the most frequent of human prion diseases, with an estimated incidence of 1 case per million / habitants per year. Clinical manifestations include multidomain cognitive impairment with pyramidal, extrapyramidal and/or cerebellar signs. It is a rapidly progressive and fatal disease. Our aim was to do a sociodemographic, clinical and progression evaluatio...
Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A. A 37-year-old woman with CMT type 2 (MFN2 mutation) developed subacute brainstem syndrome (left internuclear ophthalmoplegia, facial palsy and ataxia). Brain magnetic resonance imaging revealed infratentorial, periventricular and subcortical lesions, typical of MS (positive CSF oligoclonal band...
Introdução: A prematuridade afecta negativamente o desenvolvimento psicomotor (DPM). É consensual que o risco que determina é independente e evidente mesmo em crianças com idade gestacional muito próxima da gestação de termo. Foi propósito deste estudo avaliar o DPM de crianças em idade pré-escolar, nascidas pré termo e não referenciadas como portadoras de qualquer disfunção neurológica, designadamente cognitiv...
Background: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to ...