SNR - Artigos publicados em revistas indexadas na Pubmed/Medline
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- Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi‐Goutières SyndromePublication . Mendes Pinto, Catarina; Freixo, João; Brandão, Ana Filipa; Magalhães, Marina
- 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.
- Uncommon Movement Disorders in Chronic Hepatic Disease with Response to RifaximinPublication . Sousa, Ana L; Salgado, Paula; Alves, José E; Silva, Sara; Ferreira, Sofia; Magalhães, MarinaBackground: Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing. Case report: Patient 1 is a 42-year-old man with previous episodes of hepatic encephalopathy (HE) who presented with upper limb dystonia and generalized chorea that progressed to ballism. Patient 2 is a 55-year-old woman who presented with pronounced gait freezing. In both patients, features of HE and acquired hepatocerebral degeneration coexisted. They improved markedly, though transiently, with rifaximin. Discussion: Ammonia-reducing treatments should be considered in patients presenting with movement disorders due to chronic liver disease.
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature ReviewPublication . Lopes, F.; Torres, F.; Soares, G.; van Karnebeek, C.; Martins, C.; Antunes, D.; Silva, J.; Muttucomaroe, L.; Botelho, L.; Sousa, S.; Rendeiro, P.; Tavares, P.; Van Esch, H.; Rajcan-Separovic, E.; Maciel, P.Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.
- 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.
- Mechanical thrombectomy in patients with acute basilar occlusion using stent retrieversPublication . Carneiro, A.; Rodrigues, J.; Pereira, J.; Alves, J.; Xavier, J.Early arterial recanalisation with stent retrievers (SR) has been recently demonstrated to improve clinical outcome of patients with large-vessel occlusion of the anterior circulation. However, the benefit of SR thrombectomy in the setting of acute basilar artery occlusion (BAO) has not been proven yet. This study evaluated a series of consecutive patients with BAO treated with SR, focusing on the efficacy, safety and clinical results.
- 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.
- Recurrent temporal bone tenosynovial giant cell tumor with chondroid metaplasia: the use of imaging to assess recurrencePublication . Pina, S.; Fernandez, M.; Maya, S.; Garcia, R.; Noor, A.; Pawha, P.; Som, P.Tenosynovial giant cell tumor (TGCT) is a benign proliferative lesion of unclear etiology. It is predominantly monoarticular and involves the synovium of the joint, tendon sheath, and bursa. TGCT of the temporomandibular joint (TMJ) is rare and aggressive resulting in destruction of surrounding structures. The diagnosis may be suggested by imaging, mainly by the MR features and PET/CT, and confirmed by histopathology. We describe the case of a 50-year-old man who presented with right-sided hearing loss, tinnitus and TMJ pain. Pathology revealed tenosynovial giant cell tumor with chondroid metaplasia. Six years later he developed a recurrence, which was documented to our knowledge for the first time with CT, MR and FDG PET/CT imaging.
- Reliability of CT perfusion in the evaluation of the ischaemic penumbraPublication . Alves, J.; Carneiro, A.; Xavier, J.CT perfusion (CTP) is part of the initial evaluation of stroke patients, allowing differentiation between infarcted tissue and the ischaemic penumbra and helping in the selection of patients for endovascular treatment. This study assessed the reliability of the qualitative evaluation CTP maps in defining the ischemic penumbra and identified potential pitfalls associated with this technique. We reviewed CTP scans of 45 consecutive patients admitted to our institution with anterior circulation acute ischaemic stroke. Two neuroradiologists performed qualitative evaluations of cerebral blood volume (CBV) and mean transit time (MTT) maps, using 24h follow-up non-contrast CT as surrogate marker for the area of definitive infarct. For each slice analyzed, the area of qualitative alteration in the CBV and MTT maps was classified as either being inferior, equal or superior to the area of infarct on the follow-up CT. Three out of 45 (7%) patients had admission CT CBV abnormalities larger than follow-up lesions; 34/45 (76%) patients had infarct areas smaller than initial MTT prolongation. In the group of patients with no recanalization 12/19 (63%) had infarct areas smaller than initial MTT lesion. CBV abnormality is a reliable marker for an irreversible ischaemic lesion, although rarely it may overestimate the ischaemic "core", possibly due to delay in contrast arrival to the brain. In the majority of patients without recanalization, MTT overestimated final infarct areas, probably because it does not differentiate true "at risk" penumbra from benign oligaemia. Qualitative evaluation of CBV and MTT maps may overestimate the real ischaemic penumbra.
- Response to letter to the editor. "CT angiography source-images and CT perfusion: are they complementary tools for ischemic stroke evaluation?"Publication . Alves, J.; Carneiro, A.; Xavier, J.