Neuroradiologia
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- Accessing Non-Atherosclerotic Vasculopathies Using Ultrasound-Doppler ImagingPublication . Ferreira Pinheiro, C; Morais, T; Perry da Câmara, C; Rios, C; Diogo, MC; Ferreira, MPThe non-atherosclerotic vasculopathies are an uncommon group of disorders, with diverse etiopathogenesis, involving younger patients when compared with atherosclerotic disease. Clinical presentation varies from acute vascular events - ischemic or hemorrhagic- to uncharacteristic neurologic syndromes. Although the cerebral angiography is the gold standard diagnostic method due to its high sensibility, its specificity is low mainly when compared to imaging evaluation of the arterial wall with carotid and vertebral ultrasound-doppler. We reinforce the importance of this non-invasive and radiation-free exam, not only in the diagnosis but also in the monitoring of these patients - young patients who need a regular and extended evaluation
- Acute Necrotizing Encephalopathy: The Importance of Imaging FeaturesPublication . Pereira Lemos, A; Conceição, C; Lopes da Silva, R; Brito, MJ
- Acute Treatment of Isolated Posterior Cerebral Artery Occlusion: Single Center ExperiencePublication . Cunha, B; Baptista, M; Pamplona, J; Carvalho, R; Perry da Câmara, C; Alves, M; Papoila, AL; Nunes, AP; Reis, J; Fragata, IBackground and objectives: Randomized trials for mechanical thrombectomy (MT) excluded patients with ischemic strokes due to isolated posterior cerebral artery occlusion (IPCAO), and there is no evidence for best acute treatment strategy in these patients. We aimed to assess the effectiveness and safety of MT in acute IPCAO. Methods: We retrospectively analyzed consecutive patients with acute stroke due to IPCAO submitted to MT and/or intravenous thrombolysis (IVT), between 2015-2019. Effectiveness outcomes (recanalization rate, first-pass effect, NIHSS 24h improvement and 3-month Modified Ranking Scale - mRS) and safety outcomes (complications, symptomatic intracranial hemorrhage (SICH) and 3-month mortality) were described and compared between groups. Results: A total of 38 patients were included, 25 underwent MT and 13 had IVT alone. Successful and complete recanalization were achieved in 68% and 52% of MT patients, respectively. NIHSS improvement at 24h was found in 56% of MT patients versus 30.8% of patients submitted to IVT alone (OR [95% CI]=2.86 [0.69-11.82]) and excellent functional outcome at 3 months (mRS≤1) was achieved in 54.2% of MT patients versus 38.5% in the IVT group (OR [95% CI]=1.60 [0.41-6.32]). Complications occurred in 3 (12%) procedures and there were no SICH. Mortality at 3 months was 20% in the MT group and 15.4% in patients submitted to IVT alone. Conclusions: Our results reflect a real-world scenario in a single center and seem to support the recently growing literature showing that MT is a feasible and safe treatment in IPCAO, with favorable effectiveness.
- Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation DisordersPublication . Dupont, J; Vieira, JP; Tavares, AL; Conceição, C; Khan, S; Bertoli-Avella, AM; Sousa, ABCongenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.
- A Angiografia no Diagnóstico da Patologia Vascular Cerebral. Indicações Actuais e ControvérsiasPublication . Manaças, R; Cerqueira, LThe role of cerebral angiography in the diagnosis of cerebrovascular disease is currently being questioned due to both the increasing availability of carotid sonography and the recent introduction of Magnetic Resonance Angiography (MRA). After a technical foreword about the different modalities available today in Cerebral Angiography, we discuss its present indications (Conventional or Digital subtraction by intra-arterial route), in patients with extra and intra cranial atherosclerotic cerebro vascular disease, subarachnoid hemorrhage and arterial aneurysms, in vascular malformations, particularly arterio-venous malformations (AVM's), in occlusive non-atherosclerotic non hypertensive arteriopathies and in occlusive venous pathology. Although it is possible that the future will show us the progressive replacement of the invasive technologies by MRA, at the present stage of Magnetic Resonance development there is still an important role, if not crucial, for catheter angiography in the diagnosis of most of the diseases producing stroke syndromes.
- AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with PolymicrogyriaPublication . Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, RHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.
- Apontamento Sobre a Evolução da Técnica de Embolização das MAVs Cerebrais e Medulares, e seu Fundamento ClínicoPublication . Goulão, A; Maurício, J; Costa Reis, F; Cannas, JOs AA revêem 4 casos de grandes malformações arteriovenosas (MAV5) — 3 cerebrais e 1 medular — que são ilustrativos da evolução da sua técnica de oclusão endovascular. O interesse das embolizações, que foram sempre preliminares da cirurgia, é discutido em função da clínica, do mais fácil acesso ao nidus e da potencial prevenção de alguns riscos operatórios.
- Aracnoidite Adesiva LombarPublication . Ribeiro, C; Reis, FCSpinal arachnoiditis, an inflammatory process involving all three meningeal layers as well as the nerve roots, is a cause of persistent symptoms in 6% to 16% of postoperative patients. Although spinal surgery is the most common antecedent associated with arachnoiditis, multiple causes have been reported, including infection, intrathecal steroids or anesthetic agents, trauma, subarachnoid hemorrhage and ionic myelographic contrast material--both oil soluble and water soluble. In the past, oil-based intrathecal contrast agents (Pantopaque) were associated with arachnoiditis especially when this material was introduced into the thecal sac and mixed with blood. Arachnoiditis is apparently rarely idiopathic. The pathogenesis of spinal arachnoiditis is similar to the repair process of serous membranes, such as the peritoneum, with a negligible inflammatory cellular exudate and a prominent fibrinous exudate. Chronic adhesive arachnoiditis of the lower spine is a myelographic diagnosis. The myelographic findings of arachnoiditis were divided into two types by Jorgensen et al. In type 1, "the empty thecal sac" appearance, there is homogeneous filling of the thecal sac with either absence of or defects involving nerve root sleeve filling. In type 2 arachnoiditis, there are localized or diffuse filling defects within the contrast column. MRI has demonstrated a sensitivity of 92% and a specificity of 100% in the diagnosis of arachnoiditis. The appearance of arachnoiditis on MRI can be assigned to three main groups. The MRI findings in group I are a conglomeration of adherent roots positioned centrally in the thecal sac. Patients in group II show roots peripherally adherent to the meninges--the so called empty sac. MRI findings in group III are a soft tissue mass within the subarachnoid space. It corresponds to the type 2 categorization defined by Jorgensen et al, where as the MRI imaging types I and II correspond to the myelographic type 1.
- Aracnoidite OssificantePublication . Braz, A; Gonçalves, C; Correia Diogo; Reis, FCA aracnoidite ossificante é uma situação clínica rara, com quadro neurológico variável, que está geralmente associada a défices neurológicos progressivos, podendo ser no entanto assintomática, independentemente do grau de ossificação. O TAC é o melhor exame complementar para o seu diagnóstico, monitorização da extensão e da avaliação pós-operatória. A RMN pode apresentar alterações morfológicas e de sinal discretas, de aspecto variável, útil para diagnóstico e avaliação de outras patologias associadas (quisto aracnoideu, quisto intra-medular e cavitação seringomiélica).
- Arterial Ischemic Stroke as a Rare Early Complication of Varicella in ChildrenPublication . Alcafache, M; Silva, R; Conceição, C; Brito, MJ; Vieira, JP