Introduction: Wilson's disease (WD) is an autosomal recessive metabolic disorder caused by ATP7B gene mutations, producing toxic copper accumulation, mainly in the liver and the brain.We aim to characterise the population of patients with WD followed at our centre and to identify possible factors that may correlate with neurological involvement in WD.Methods: We identified all patients with the diagnosis of WD listed in our centre's database between 2009 and 2017.We reviewed case records and collected clinical, laboratorial, genetic and imaging data.Results: We identified 24 patients, 17 (71%) of which were females.The median age at diagnosis was 17 years.ATP7B gene sequencing result reported c.2123T>C as the most frequent mutation.The mixed hepatic and neurological presentation was the most common form (45.8%, 11 cases).Pure hepatic and neurological presentations were found in 10 (41.7%) and 3 (12.5%)patients, respectively.Rigidity, bradykinesia and tremor were the most reported neurological signs, with bradykinesia being more frequent in the younger patients.Normal liver transaminase levels at diagnosis correlated with the presence of neurological disease (p<0.01).Six patients with neurological symptoms presented brain magnetic resonance imaging changes compatible with WD.Follow-up reported improvement with treatment in 8/11 (73%) patients with neurological symptoms.Conclusion: Initial assessment of liver transaminase levels may help to identify WD patients who are more likely to develop in time neurological symptoms, alerting to the need for regular neurological evaluations.

ensaios clnicos, estudos caso-controlo, estudos de coorte e estudos de caso, em que fossem utilizados canabinides em monoterapia ou tratamento adjuvante; 2) estudos envolvendo a populao peditrica (idade inferior a 18 anos); 3) estudos envolvendo exclusivamente humanos, publicados em lngua inglesa ou portuguesa. Utilizaram-se como palavras-chave: "

Introduction: Previous studies on caffeine and risk of multiple sclerosis (MS) yielded different results; one study suggests a positive effect on disease progression. Our aim was to examine associations between coffee consumption, demographic and clinic characteristics.

Introduction: Headache accounts for 4% of all Emergency Department (ED) visits and head-computer tomography scan (H-CT) is usually the first method to approach a suspected secondary headache. Screening tools using "red flags" for the appropriate identification of these patients in the ED are of major importance. We aim to identify the differences between headache patients with normal and abnormal H-CT; to describe the final diagnosis and abnormal H-CT findings; and to recognize which "red flags" could be clinical predictors of abnormal H-CT.

A pandemia da COVID-19 atingiu uma dimensão, há muito não vista, apresentando já mais de 3 milhões de infetados em todo o mundo.O vírus SARS-CoV-2, responsável pela doença COVID-19, pertence à família Coronaviridae, a qual, além das usuais manifestações respiratórias, parece apresentar neurotropismo e ser responsável também por diversas manifestações neurológicas associadas.É importante que os neurologistas conheçam estas manifestações pela possibilidade de se depararem com elas na sua prática clínica

Chronic Headache in Adolescence: Is there a Place for Medication Overuse? Resumo A cefaleia por uso excessivo de medicamentos uma entidade heterognea, relativamente comum em idade peditrica, mas sub-diagnosticada. O diagnstico baseia-se no reconhecimento da utilizao excessiva de frmacos para tratamento agudo da cefaleia, que propiciam o aumento da frequncia e intensidade da dor, induzindo a progresso para a cronicidade. A fisiopatologia e, consequentemente, a relao causal entre a cefaleia e o consumo excessivo de determinadas classes de frmacos no esto totalmente esclarecidas. Apresenta-se o caso de uma adolescente de 13 anos referenciada consulta por um quadro clnico compatvel com uma cefaleia tipo tenso crnica. Aps caracterizao adequada das crises e da sua relao com a toma frequente de analgsicos simples, identificou-se uma cefaleia por uso excessivo de medicamentos. A abordagem teraputica baseou-se na educao e aconselhamento, descontinuao do frmaco analgsico e instituio de profilaxia adequada. Discute-se a clnica, a relao da cefaleia com a utilizao excessiva de analgsicos e a orientao teraputica em idade peditrica.