Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder caused by mutations in the PLA2G6 gene and is part of the neurodegeneration with brain iron accumulation disease group. We present the case of a three-year-old male with a six-month history of neurodevelopmental regression, including motor and speech regression. Brain magnetic resonance imaging (MRI) revealed characteristic findings such as claval hypertrophy and symmetrical cerebellar atrophy, prompting targeted genetic testing which confirmed a compound heterozygous mutation in the PLA2G6 gene. This case emphasizes the importance of integrating clinical, imaging, and genetic findings for the early diagnosis of infantile neuroaxonal dystrophy, highlighting the critical role of pathognomonic MRI features.

Introduction: Blood-based neurofilament light chain (NfL), a neuronal cytoskeleton protein, has proven to be a dynamic and robust biomarker for neurodegeneration. The influence of age on NfL levels has been extensively documented in cerebrospinal fluid studies, with blood quantification showing similar trends. To aid the clinical interpretation of NfL values, it is crucial to establish normal reference intervals through population-specific studies that account for NfL’s dynamic range. Methods: In this study, we determined reliable age-stratified reference values for serum NfL (sNfL) using the single-molecule array (SiMoA) immunoassay in individuals with no evidence of cognitive impairment according to age- and education-adjusted normative data for the Mini-Mental State Examination (MMSE), recruited from the central region of Portugal, across a broad age range. Results: Our sample comprised 335 individuals (median age of 53 years, 57% female) aged 20 to 99 years. We found a strong correlation between age and sNfL levels (rho=0.72, p<0.001). Age-stratified reference limits (upper 95th percentile in each decade) were established as follows: 20-30 years= 9.77 pg/mL; 31-40 years= 13.3 pg/mL; 41-50 years= 16.5 pg/mL; 51-60 years= 21.2 pg/mL; 61-70 years= 41.3 pg/mL; 71-80 years= 48.1 pg/mL; 80+ years= 62.5 pg/mL. Conclusion: These findings provide a unique national normative baseline for the Portuguese population.

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy characterized by progressive motor and sensory impairment. Mutations in the myelin protein zero (MPZ) gene are the second most common cause of CMT and are often associated with severe clinical presentations. We describe the case of a 31-year-old woman who had an incidental diagnosis of an intermediate neuropathy on nerve conduction studies, without any symptoms or clinical signs. Genetic analysis identified a novel MPZ mutation, c.275dup [p.(Thr94Aspfs*28)], predicted to produce a truncated, non-functional protein. Over a follow-up period of seven years the patient remains asymptomatic. The patient’s father, also asymptomatic and without findings relevant to observation, presented similar alterations in nerve conduction studies, but did not undergo genetic studies. This case broadens the known phenotypic spectrum of MPZ-related neuropathies and suggests that additional genetic or epigenetic factors may influence disease expression.

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Neuro-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 fluid (CSF) analysis revealed elevated mononuclear cells. Extensive malignancy screening and autoimmune workup, including HLA-B51, were unremarkable. A presumptive diagnosis of NBD was made, and treatment with corticosteroids followed by infliximab led to initial improvement. Four months later, symptom recurrence with new MRI lesions and elevated CSF protein raised concerns. Lack of sustained response prompted a brain biopsy, confirming primary CNS large B-cell lymphoma. The patient was started on methylprednisolone and methotrexate, which were discontinued due to complications. Despite this, clinical improvement was observed, and the patient remains stable with mild cognitive deficits at follow-up four months later.

Introdução: A levodopa continua a ser a terapêutica mais eficaz na doença de Parkinson (DP). Com a progressão da doença e disautonomia, a absorção e resposta aos tratamentos orais ficam comprometidas. Nestas fases, as terapias de infusão continua podem substituir ou complementar as terapêuticas orais, permitindo um controlo mais estável dos sintomas. Métodos: Estudo observacional retrospetivo que incluiu doentes com DP submetidos a terapias de infusão num hospital terciário no norte de Portugal entre janeiro de 2022 e março de 2025. Recolheram-se dados demográficos e foram aplicadas as escalas: Unified Parkinson’s Disease Rating Scale (UPDRS) parte III e parte IV; Non-Motor Symptoms Scale (NMSS); Parkinson’s Disease Questionnaire (PDQ-39); Parkinson’s Disease Sleep Scale-2 (PDSS-2); Mini Mental State Examination (MMSE); Hoehn and Yahr scale e Patient Global Impression of Change (PGIC). Analisaram-se também as reações adversas. Resultados: Foram identificados 25 doentes, maioritariamente do sexo masculino (71,4%), com mediana de idade de 76 anos (AIQ 14). Apresentavam duração média de doença de 13,6 ± 5,3 anos e flutuações motoras há 6,7 ± 3,0 anos. Catorze doentes encontravam-se sob tratamento com foslevodopa/foscarbidopa subcutânea (FCFLsc); oito sob levodopa/carbidopa gel intestinal (LCGI) e três sob apomorfina subcutânea (ASC). Verificou-se uma redução da pontuação média da UPDRS III (de 61,1 para 47,8; p<0,001) e UPDRS IV (8,9 para 6,1; p=0,001) na amostra total, com maior impacto no subgrupo FLFCsc, no qual também se objetivou melhoria dos sintomas não motores (NMSS, p=0,046) e qualidade do sono (PDSS-2, p=0,002). Foram reportadas reações adversas em 80% dos doentes, sobretudo relacionadas com o local de infusão. Conclusão: As terapias de infusão mostraram-se eficazes na melhoria dos sintomas motores, não motores e complicações motoras. Os dados relativos à bomba de FLFCsc, disponível em Portugal desde 2024, oferecem informações relevantes de vida real, suportando a sua eficácia e segurança tanto no controlo dos sintomas motores como não motores, incluindo a qualidade do sono.

Intraocular tuberculosis is a rare manifestation of Mycobacterium tuberculosis infection. We present a case of an immunocompetent male who presented with subacute binocular vision loss. On examination, he had a visual acuity of 6/10 bilaterally and optic disk edema. Initial workup was negative for structural, autoimmune, infectious or toxic etiologies. He was first treated with methylprednisolone, plasma exchange and intravenous immunoglobulin, without any clinical improvement. On the 20th day of admission, intraocular tuberculosis was presumed due to a positive interferon gamma release assay and chest tomography showing previous infection with Mycobacterium tuberculosis. He was started on an anti-tuberculosis drug regimen for 12 months, without any worsening of his visual acuity.

A cefaleia é um dos sintomas neurológicos mais comuns e uma das queixas mais frequentes em contexto de urgência. Embora seja essencial reconhecer os sinais de alerta associados às dores de cabeça e as possíveis causas secundárias, é também importante gerir adequadamente as cefaleias primárias, com frequência negligenciadas e subtratadas neste setor. Isso aplica-se tanto à população adulta como à pediátrica. Em situações agudas, fármacos como triptanos (para a enxaqueca e a cefaleia em salvas), oxigenoterapia de alto fluxo (para a cefaleia em salvas), medicamentos intravenosos como laçosamida, fenitoína e levetiraectam (para a nevralgia do trigêmeo) e indometacina (para as cefaleias trigémino-autonómicas além da cefaleia em salvas) devem estar disponíveis no serviço de urgência e ser sempre considerados, dependendo das comorbilidades do doente e das possíveis contraindicações. Este documento resume as recomendações dos autores sobre o tratamento das cefaleias primárias e nevralgias mais comuns no serviço de urgência.