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Primary Central Nervous System Lymphoma Mimicking Neuro-Behcet Disease
Silva, Lénia; Costa, Sara; Igreja, Liliana; Taipa, Ricardo; Araújo Correia, João; Santos, ErnestinaNeuro-Behcet’s disease (NBD) and primary central nervous system lymphoma (PCNSL) are rare conditions that can present with overlapping features, often delaying diagnosis. We report a female patient with recurrent oral aphthae and arthralgia who developed visual disturbances, behavioral changes, and hemiparesis. Brain magnetic resonance imaging (MRI) showed multiple contrast-enhancing lesions, and cerebrospinal ...
Portuguese Consensus for the Evaluation of the Multiple Sclerosis Treatment Res...
Batista, Sónia; Capela, Carlos; Correia, Filipe; Ferreira, João; Guimarães, Joana; Santos, Ernestina; Sá, Maria JoséIntroduction: Multiple sclerosis management has progressed significantly due to the development of novel treatments. Thus, assessing the patients’ treatment response is essential to optimize therapeutic decisions. This study aimed to establish a national consensus on the assessment and monitoring of the response to multiple sclerosis treatment with disease-modifying therapies. Methods: The Delphi methodology wa...
Portuguese Consensus Guidelines for the Diagnosis and Treatment of Myasthenia G...
Cruz, Simão; Cruz, Simão; Matos, Anabela; Braz, Luis; Falcão de Campos, Catarina; Cerqueira, Joao; Medeiros, Luisa; Santos, Ernestina; Santos, LuisA miastenia gravis é uma doença autoimune da junção neuromuscular, cuja fisiopatologia consiste na produção de anticorpos patogénicos, mais frequentemente dirigidos contra o recetor nicotínico da acetilcolina e, mais raramente, contra a cinase específica do músculo. Outros elementos fisiopatológicos importantes incluem a cascata do complemento e as linhagens linfocitárias B e T. O diagnóstico assenta em fraquez...
A 30-year experience in neuro-Behçet disease
Silva, Lénia; Silva, Isabel Fonseca; Fonseca, Tomás; Pinto, Luísa Serpa; Leal, Bárbara; Pinho e Costa, Paulo; Igreja, Liliana; Moreira, BrunoBackground: Behçet disease (BD) is a systemic vasculitis affecting multiple organs with a wide range of severity. Neuro-Behçet (NBD) is a severe form, characterized by high morbidity, disability, and mortality rates. Methods: Retrospective analysis (1993-2023) of neurological involvement in BD patients at a tertiary center. Results: Of 296 BD patients, 93(31.4 %) underwent neurological evaluation. Definite NBD ...
Multiple Sclerosis Disease-Modifying Treatment Algorithms: 2025 Positioning of ...
Capela, Carlos; Santos, Ernestina; Palavra, Filipe; Guimarães, Joana; Cerqueira, João; Vale, José; Sousa, Lívia; Batista, Sónia; Sá, Maria JoséMultiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenerative disease characterized by inflammation, demyelination, and axonal/neuronal damage in the central nervous system. In Portugal, the prevalence of MS is approximately 64.4 per 100 000 individuals. It is typically diagnosed in young adults aged 30 to 40, with a higher incidence in women, although it can also affect children/adolescents and th...
Multiple Sclerosis Disease-Modifying Treatment Algorithms
Capela, Carlos Miguel Cheganças; Santos, Ernestina; Palavra, Filipe; Guimarães, Joana; Cerqueira, João; Vale, José; Sousa, Lívia; Batista, SóniaFunding Information: Editorial support in the form of medical writing and editing assistance for manuscript preparation was provided by Evidenze Portugal. This article was fully supported by the Portuguese Multiple Sclerosis Study Group (GEEM), without any additional external funding. Publisher Copyright: Copyright © Ordem dos Médicos 2025.; Multiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenera...
Portuguese Consensus Guidelines for the Diagnosis and Treatment of Myasthenia G...
Cruz, Simão; Matos, Anabela; Braz, Luís; Falcão Campos, Catarina; Cerqueira, João; Medeiros, Luísa; Santos, Ernestina; Santos, Luís; Veiga, AndreiaMyasthenia gravis is an autoimmune disease that affects the neuromuscular junction, mainly through the action of pathogenic antibodies such as those directed against the nicotinic acetylcholine receptor or, more infrequently, against the muscle specific kinase. Other important components of the autoimmune process include the complement pathway and B and T cell populations. Diagnosis is based on the finding of f...
Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease
Moura, João; Malaquias, Maria João; Jorge, Firmina; Pinto, Eduarda; Sardoeira , Ana; Laranjinha, Inês; Oliveira, Vanessa; Sousa, Ana PaulaIntroduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients.Methods: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and...
Síndrome de Stiff-Person: Revisão
Azevedo, Ana; Gomes, Rita; Damásio, Joana; Santos, ErnestinaStiff-person syndrome is a rare autoimmune neurologic disorder characterized by progressive muscular rigidity and painful muscle spasms predominantly affecting the axial and the proximal limb muscles. Most patients with stiff-person syndrome have antibodies directed against the glutamic acid decarboxylase, the rate-limiting enzyme for the production of inhibitory neurotransmitter gamma-aminobutyric acid. Parane...
Congenital Myasthenic Syndromes and Pregnancy Outcome
Sambayeta, Firmina; Sousa, Luísa; Ribeiro, Luís; Duarte, Sara; Silva Pinto, Carla; Martins, João; Santos, ErnestinaCongenital myasthenic syndromes (CMS) are genetic conditions characterized by dysfunction of the neuromuscular transmission. There is limited data on pregnancy safety in myasthenia gravis for both mother and child. Retrospective study on pregnant CMS patients who were followed in two tertiary hospitals and their clinical data was analyzed. Sixteen pregnancies from 9 patients with CMS and history of pregnancy we...