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  • Ptosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment
    Publication . Santos Silva, C; Nunes Vicente, B; Martins, B; Fonseca, AC; Coelho, P; Roque, R; Cota de Medeiros, F; Oliveira Santos, M; de Carvalho, M
    Objective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature. Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted. Results: On clinical examination, all patients presented with bilateral symmetrical non-fatigable ptosis, three exhibited facial lipoatrophy and two also had mild multidirectional ophthalmoparesis and all had ocular abnormalities in Hess screen test. Additionally, one patient displayed proptosis, three had floppy lower eyelids, and four presented with exotropia. Anti-acetylcholine receptor antibodies were negative in all patients. Brain magnetic resonance imaging (MRI), motor unit potential analysis, and single-fiber electromyography were unremarkable. Orbital MRI revealed introrbital fat expansion in one patient, and limb muscle biopsies were inconclusive in two cases. Blood genetic testing for chronic progressive external ophthalmoplegia was negative in all patients. A total of 30 similar cases have been documented in the literature, with some studies reporting key findings such as muscle histology indicative of mitochondrial myopathy, MRI revealing patchy extraocular muscle hyperintensity, and muscle genetic testing identifying mitochondrial deoxyribonucleic acid (DNA) deletions. Ptosis surgical repair appears to be the most effective treatment. Conclusion: HIV patients on long-term ART may develop ocular muscle involvement due to mitochondrial dysfunction, with bilateral ptosis being the primary manifestation. Diagnosis is challenging and requires the exclusion of other conditions. Ptosis surgery can significantly improve quality of life.
  • Avaliação do Conhecimento das Mulheres com Epilepsia em Idade Fértil sobre o Impacto da sua Doença na Contraceção, Gravidez e Amamentação: Um Estudo Transversal Multicêntrico
    Publication . Lopes das Neves, P; Ventura, R; Sobral-Pinho, A; Silva, E; Morgadinho, A; Vitor, J; Miranda, M; Madureira, B; Moniz Dionísio, J; Pinheiro, R; Delgado, S; Carapinha, D; Rego, A; S´á, F; Pelejão, MR; Antunes, F; Marques, I; Brito da Silva, V; Castro Sousa, S; Peres, J; Martins, A; Tojal, R
    Introduction: The interaction of antiseizure medication with contraceptives, its potential teratogenicity and implications in pregnancy and breastfeeding are aspects to consider in the neurological care of women with epilepsy of childbearing age. To ensure the commitment in therapeutic decisions and the appropriate planning of maternity, it is essential that women are informed about the implications of their disease in these domains. The main aim of this study was to assess the knowledge of women of childbearing age with epilepsy concerning the impact of epilepsy in contraception, pregnancy and breastfeeding. As secondary aims we defined (1) the demographic, clinical and therapeutic characterization of this group of patients, (2) the identification of variables that correlated with the level of knowledge of women with epilepsy, and (3) the identification of preferential methods to acquire new knowledge about epilepsy. Material and methods: The study was observational, cross-sectional and multicentric, and was carried out in five hospitals of the Lisbon metropolitan area. After identifying all women of childbearing age with epilepsy followed in the epilepsy clinic of each center, we applied an electronic questionnaire based on a non-systematic review of the literature. Results: One hundred and fourteen participants were validated, with a median age of 33 years. Half of the participants were on monotherapy, and the majority had no seizures in the last six months. We identified important gaps in the participants' knowledge. Sections about complications and administration of antiseizure medication during pregnancy were the ones with the worst results. None of the clinical and demographic variables correlated with the final questionnaire score. Having had a previous pregnancy and the desire to breastfeed in a future pregnancy were positively correlated with the performance in breastfeeding section. Face-to-face discussion during medical outpatient visits was selected as the preferential method to learn about epilepsy, and the internet and social media were the least preferred ones. Conclusion: The knowledge of women of childbearing age with epilepsy in the Lisbon metropolitan area concerning the impact of epilepsy in contraception, pregnancy and breastfeeding seems to have significant gaps. Medical teams should consider engaging in patient education particularly during outpatient clinics.
  • Recurrent optic neuropathy: a case of Harding’s disease?
    Publication . Miranda, M; Andrade, MM; Silva, MI; Sousa, SC; Carmona, C
  • No reason to smile: giant internal carotid artery aneurysm
    Publication . Miranda, M; Marques, D; Montes, V; Pita, F
    Giant cerebral aneurysms account for approximately 5% of all intracranial aneurysms, affecting morecommonly women in the 5th to 7th decade. When untreated, giant intracranial aneurysms face a poor prognosis withan estimated 2-year mortality of 68%. We present the case of an 82-year-old woman admitted at the emergencydepartment due to two focal to bilateral tonic-clonic seizures with a giant aneurysm of the supraclinoid segment ofthe right internal carotid artery on the CT scan. We discuss different management approaches for giant internalcarotid artery aneurysms, including direct surgical clipping, reconstructive endovascular procedures (coiling, balloon-/stent-assisted coiling, and flow diversion), deconstructive endovascular techniques (parent artery occlusion), andconservative management.
  • Post-COVID-19 neurocandidiasis
    Publication . Miranda, MA; Sousa, SC; Montes, VL
    Associated with a significant morbidity and mortality, neurocandidiasis affects severely immunocompromised patients, especially if recently treated with antibiotics or corticosteroids. We present the case of a 70-year-old man admitted to an intensive care unit due to a Sars-Cov-2 pneumonia, with fever, coma, and multifocal neurological deficits reported 13 days after extubation. After isolation of Candida albicans in both urine and blood cultures and a brain MRI with multiple gadolinium-enhanced ring lesions, a diagnosis of neurocandidiasis was assumed and aggressive antifungal therapy started. During treatment, the patient developed a hospital-acquired pneumonia with fatal outcome.
  • Neurolymphomatosis as primary presentation of extra-nodal NK/T-cell lymphoma, nasal type
    Publication . Silva, MI; Santos, P; Viegas, D; Miranda, M; Montes, V; Pita, F; Carmona, C
    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. ENKTL is usually associated with Epstein-Barr virus (EBV) infection and rarely affects the central and peripheral nervous system. Lumbar puncture, magnetic resonance imaging (MRI), nerve biopsy, and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) help to establish the diagnosis. Thereby, NL should be considered in the differential diagnosis of painful progressive multiple neuropathies, even in patients without previous history of cancer.
  • Um Afrodisíaco Potencialmente Fatal: Intoxicação por Cantaridina
    Publication . Diaz, P; Carneiro, A; Montes, V; Alves, S
    Cantharidin is a toxin extracted from coleoptera beetles, commonly known as 'Spanish fly'. Traditionally it was used as an aphrodisiac, a vesicant or as an abortifacient. Intoxication by this substance has been widely reported, generally associated with gastrointestinal complications, such as digestive hemorrhage, and genitourinary disorders, such as hematuria and acute kidney injury. The authors describe the case of a 51-year old male patient who developed severe cantharidin poisoning after ingesting a preparation ('tea formulation') containing the substance. The patient reported a burning sensation in his oral cavity, diarrhea and hematuria, having sustained acute kidney injury and atypical neurological symptoms. Due to the lack of an antidote, the available treatment options are reduced to supportive measures. This case strengthens the need for a thorough medical history to ascertain the use of 'natural' products and medicinal herbs (i.e. of unregulated origin), and the importance of educating the community to their potential toxicity.