SNR - Serviço de Neurorradiologia
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- Acufeno púlsátil - Caso clínico de fístula arteriovenosa dural e revisão da literaturaPublication . Monteiro, D.; Lino, J.; Carvalho, I.; Ferreira, M.; Xavier, J.O acufeno é definido como uma percepção consciente de um som na ausência de fonte externa. Embora não seja considerado uma doença, muitos doentes sofrem deste sintoma. Tem múltiplas etiologias sendo que, apenas algumas são conhecidas. As malformações vasculares constituem a principal causa de acufenos pulsáteis. Descrevem-se dois casos clínicos de doentes com acufeno pulsátil. Ambos realizaram angio-ressonância que evidenciou fístula arteriovenosa dural (DAVF) do seio lateral direito, uma do tipo I e outra do tipo IIa de Cognard. Foram submetidas a angiografia crânioencefálica com embolização, recorrendo a partículas de polivinil álcool (PVA) e a Onyx®, com encerramento da fístula e resolução das queixas. O tratamento das fístulas arteriovenosas durais deve ser ponderado de acordo como tipo de fístula, segundo as escalas de Cognard ou de Borden e, com a existência ou não de sintomatologia.
- Acute Ischemic Stroke in a Child Successfully Treated with Thrombolytic Therapy and Mechanical ThrombectomyPublication . Souto Silva, R.; Rodrigues, R.; Reis Monteiro, D.; Tavares, S.; Pereira, J.; Xavier, J.; Melo, C.; Ruano, L.Acute ischemic stroke in the pediatric population is rare but carries lasting and often lifelong morbidity. Thrombolysis and mechanical thrombectomy are mainstays of care in adults, yet there is very little evidence for these treatments in children. We present the case of a 4-year-old boy with complex congenital heart disease, admitted 30 min after sudden onset of an aphasia and right hemiplegia, scoring 14 on the Pediatric National Institutes of Health Stroke Scale (PedNIHSS). Non-contrast brain computed tomography (CT) showed no evidence of acute ischemia. CT angiogram demonstrated a thrombus in the M1 segment of the left middle cerebral artery. Intravenous recombinant tissue plasminogen activator (rTPA) was infused 3.5 h after onset of symptoms. An improvement was observed in the hour after rTPA, with a PedNIHSS score of 7. Digital subtraction angiography was performed approximately 9 h from the onset of symptoms, showing a complete left M1 occlusion. The patient underwent successful mechanical thrombectomy and was discharged with a PedNIHSS score of 2. This case emphasizes the importance of early recognition to direct children towards rapid diagnosis and hyperacute treatment.
- Acute ischemic stroke secondary to glioblastoma. A case reportPublication . Pina, S.; Carneiro, A.; Rodrigues, T.; Samões, R.; Taipa, R.; Melo-Pires, M.; Pereira, C.Glioblastoma is a malignant infiltrative glial tumor occurring most often over 50 years of age, with diverse clinical presentations. We describe a case of temporal lobe glioblastoma with a rare presentation as an acute ischemic stroke, discussing the imaging and histopathological findings, and reviewing the literature. A 77-year-old woman had sudden onset of left hemiparesis and hemihypoesthesia. The neuroradiological studies revealed an acute ischemic lesion in the right lenticulostriate arteries territory and a right anterior temporal lobe tumor, enhancing heterogeneously after contrast with enhancement of the right middle cerebral artery wall. Histopathological analysis of the resected temporal lesion revealed a glioblastoma multiforme with tumoral infiltration of the vascular wall. Glioblastoma should be considered in the etiology of acute ischemic stroke, where neuroimaging plays an important diagnostic role, enabling a more immediate therapeutic approach, with a consequent impact on survival.
- APRESENTAÇÃO ATÍPICA DA MALFORMAÇÃO ANEURISMÁTICA DA VEIA DE GALENOPublication . Pereira, J.; Safronova, M.; Nunnes, P.; Caixeiro, T.; Alves, V.; Xavier, J.
- Arterial Spin Labeling: Experiência Inicial, Indicações Clínicas e DificuldadesPublication . Carneiro, A.; Pina, S.; Moreira, B.RESUMO O arterial spin labeling (ASL) é uma técnica de perfusão por ressonância magnética (RM) que usa os protões das moléculas de água do sangue arterial como marcador endógeno. As suas principais vantagens residem no facto de ser um método não invasivo, rápido e que dispensa a administração de contraste. Actualmente os seus resultados são reprodutíveis de modo robusto, o que o torna uma ferramenta cada vez mais utilizada na prática clínica. O objectivo deste trabalho é apresentar a nossa experiência inicial com o ASL, salientando os aspectos técnicos, as principais solicitações clínicas, os resultados obtidos e as dificuldades experimentadas. Métodos: Foi efectuada uma revisão dos exames realizados durante um período de oito meses, usando uma técnica de ASL pulsado, num aparelho de 3T. A avaliação dos mapas de perfusão foi realizada de modo qualitativo. Resultados: As principais indicações clínicas para a realização de ASL foram epilepsia, doenças neuro-degenerativas e tumores intra-parenquimatosos. Embora o ASL não tenha sido, em nenhum dos casos, a principal ferramenta diagnóstica, contribuiu, por vezes, com dados fisiológicos importantes para o diagnóstico e para a orientação terapêutica. Salientam-se os casos de doentes com múltiplas crises epilépticas nos quais foi possível identificar focos de hiperperfusão pós-ictal (cujos resultados foram concordantes com o SPECT). Destacam-se ainda casos de doenças neuro-degenerativas nos quais o ASL identificou áreas de hipoperfusão típicas das respectivas entidades nosológicas. As principais dificuldades estiveram relacionadas com o carácter qualitativo da avaliação e com a valorização clínica dos achados. Conclusão: O estudo da perfusão cerebral por ASL tem um potencial diagnóstico importante. Com este trabalho mostramos que, com uma aquisição rápida e pós-processamento simples, pode facilmente integrar os estudos de RM de rotina. Abstract Arterial spin labelling (ASL) is a MR perfusion technique that uses protons from water molecules of the arterial blood as an endogenous tracer. It is fast, non-invasive and does not require gadolinium administration. Due to the increasing robustness of the results, it is becoming an important clinical tool. In this article we present our initial experience with ASL, highlighting some technical aspects, the main clinical applications, some achieved results and most important difficulties. Methods: Review of the examinations performed during eight months, using a pulsating ASL technique in a 3T machine. Perfusion maps were evaluated qualitatively. Results: The most frequent clinical applications were epilepsy, neurodegenerative disorders and tumours. Although perfusion data from ASL had never been crucial for diagnosis, it still provided substantial information. We highlight two epileptic patients who had had recent seizures, in which ASL depicted distinct post-ictal hyperperfusion areas (with the results being confirmed by SPECT studies). The impact was also remarkable in patients with neurodegenerative disorders in which ASL depicted hypoperfusion areas, typical of each nosological entity. The main difficulties were related to the lack of quantitative evaluation and to the clinical interpretation of the results obtained. Conclusion: ASL perfusion studies have a great potential in several clinical conditions. In this article we show that, with a fast acquisition and easy post-processing, it can integrate routine MRI examinations.
- A case of haemophagocytic syndrome presenting with oculogyric crisesPublication . Taipa, R.; Moreira, B.; França, M.; Maia, L.Haemophagocytic lymphohistiocytosis (HLH), also called haemophagocytic syndrome (HPS), is a rare disorder resulting in abnormal proliferation of histiocytes in tissues and organs, including the CNS. HLH can present as a primary disease or occur as a secondary reactive disease. Clinical features are high fever, splenomegaly, cytopenia of two or more cell lines, hypertriglyceridaemia and haemophagocytosis. CNS involvement varies between 10% and 73%, and clinical manifestations include seizures, decreased sensorium, brainstem symptoms, ataxia or demyelinating peripheral neuropathy.
- [Choroidal type aneurysmal malformation of the vein of Galen associated with Dandy‐Walker malformation in an adult]Publication . Ribeiro, V.; Botelho, L.; Lopes, A.; Ribeiro, P.; Xavier, J.; Teixeira, J.; Cruz, R.A distrofia muscular congénita (DMC) é uma das distrofias mais frequentes da infância, caracterizada por fraqueza muscular neonatal, com ou sem envolvimento do Sistema Nervoso central (SNC). As DMCs foram classificadas em cinco tipos clínicos diferentes: as duas formas de DMC clássica, com e sem défice da cadeia a2- laminina da merosina, causada por mutações do gene no cromossoma 6q2, a DMC de Fukuyama (forma clinicamente severa, inicialmente descrita em Japoneses e ligada ao cromossoma 9q31-33), a síndrome Walker-Warburg e a Doença músculoolhos- cérebro, descrita em doentes Finlandeses. A maioria destas formas tem envolvimento clínico e imagiológico severo do SNC. Este aspecto, raramente é observado na DMC clássica, particularmente na forma merosina positiva. Descrevemos o caso de uma doente de 28 anos, com sinais clínicos e histopatológicos de DMC clássica, não deficiente em merosina (merosina positiva). Não tem atraso mental, mas apresenta epilepsia. A RM revela, nas ponderações de TR longo, hipersinal difuso e simétrico da substância branca de ambos os hemisférios cerebrais, atingindo também o corpo caloso, braços posteriores das cápsulas internas e a via piramidal até ao mesencéfalo. O sinal dos gânglios da base é também anormal, observando-se hipersinal difuso e simétrico dos corpos estriados, sobretudo da cabeça dos núcleos caudados. Associa-se displasia cortical occipital posterior bilateral. Este padrão imagiológico poderá corresponder a um novo subtipo de DMC, híbrido entre a DMC clássica e as formas graves, embora não se saiba qual o seu lugar no espectro. Além disso, o nosso caso relembra o possível envolvimento do SNC em doentes merosinapositivos, pelo que sugerimos a realização de RM a todos os doentes com DMC não deficientes em merosina.
- Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case SeriesPublication . Videira, Gonçalo; Malaquias, Maria João; LARANJINHA, INES; Martins, Ricardo; Taipa, Ricardo; Magalhães, MarinaIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal-onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion: AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.
- DISPLASIA FIBROMUSCULAR DA CIRCULAÇÃO POSTERIORPublication . Nunnes, P.; Ramos, C.; Dias, D.; Alves, V.; Pires, M.; Cruz, R.
- Enfermedad de Schilder: dos nuevos casosPublication . Garrido, C.; Levy-Gomes, A.; Teixeira, J.; Temudo, T.Summary. Introduction. Schilder’s disease, or diffuse myelinoclastic sclerosis, is an infrequent disease that presents clinically as a pseudotumoural demyelinating lesion, which makes its diagnosis more complicated as it can be mistaken for a tumour or an abscess. Case reports. We examine the case of a male who was healthy up to the age of 8 years, when symptoms of a left hemiparesis appeared with a subacute onset and which were associated to symptoms of intracranial hypertension. A brain CAT scan showed a hypodense lesion in the right temporoparietal region, and the hypothesis of a tumoural lesion (astrocytoma) was suggested. Treatment was started with dexamethasone and furosemide, and a complete regression of the symptoms and a considerable decrease in the cerebral lesion were observed. The second case is that of a female adolescent who, at the age of 11, developed a clinical picture of subacute onset of left hemiplegia. A brain CAT scan revealed hypodense lesions with ring-shaped contrast enhancement. In view of the histological diagnosis of an astrocytoma, radiotherapy and corticotherapy were started. After two months’ treatment, a sharp involution of the lesions was observed, which led to the acceptance of the diagnostic hypothesis of Schilder’s disease. Both children presented recurrence of the lesions three years and nine months, in the first and second case respectively, after the first episode. Treatment with corticoid therapy was started with good clinical and radiological responses. Conclusions. In the presence of a neurological deficit with a subacute onset, associated to a brain image showing a ‘tumoural’ lesion containing an important amount of oedema and little mass effect, diagnoses other than that of a brain tumour must be taken into account. It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae.
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