Sinapse最新文献

{"title":"Mutações no Gene IBA57 como Causa de Leucodistrofia na Idade Pediátrica: Um Caso Clínico","authors":"Leonor Ladeira Rodrigues, Patrícia Janeiro, Tiago Proença dos Santos, Joana Coelho","doi":"10.46531/sinapse/cc/230035/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230035/2024","url":null,"abstract":"\u0000A produção de ATP no corpo humano é dependente da fosforilação oxidativa que, por sua vez, é regulada pelo DNA mitocondrial e nuclear.\u0000Mutações nos genes envolvidos na cadeia mitocondrial de transporte de eletrões e no processo da fosforilação oxidativa foram recentemente descritos como causa de leucodistrofias. Estas são doenças genéticas que afetam primariamente a substância branca cerebral.\u0000Um dos genes envolvido nesta doença é o gene IBA57 (1q42.13) que é responsável por codificar uma proteína localizada na mitocôndria e que faz parte do cluster Fe/S. A proteína em questão chama-se putative transferase CAF17 e está envolvida na ma- turação das proteínas mitocondriais 4Fe-4S.\u0000Reportamos o caso de uma criança com uma doença neurodegenerativa e um pa- drão imagiológico indicativo de leucodistrofia. Após a análise genética, foram identi- ficadas duas variantes em heterozigotia no gene IBA57.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141382001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transient Ischemic Attack and Cerebral Amyloid Angiopathy-Related Inflammation: Similar Presentation, Different Entities","authors":"Raquel Oliveira, Raquel Batista, Priscila Flores, Ana Massano, Sérgio Galo, Isabel Martins","doi":"10.46531/sinapse/cc/230085/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230085/2024","url":null,"abstract":"\u0000\u0000\u0000\u0000Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare subtype of CAA characterized by a perivascular inflammatory response to amyloid deposition in the brain.\u0000The authors detail the case of a 74-year-old man with aphasia, who was diagnosed with probable CAA-ri following brain magnetic resonance imaging. Treatment recom- mendations included a 5-day course of high-dose methylprednisolone.\u0000CAA-ri may manifest with transient or permanent neurological symptoms resem- bling a transient ischemic attack or stroke, potentially leading to misdiagnosis and inadequate long-term treatment. Hence, our objective is to highlight the clinical and imaging findings of this case.\u0000\u0000\u0000\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141385490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Rhabdomyolysis and RHOBTB2 Encephalopathy","authors":"Fiona Nóbrega Caldeira, Kaylene Freitas, Andreia Forno, Cátia Cardoso","doi":"10.46531/sinapse/cc/240002/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/240002/2024","url":null,"abstract":"\u0000\u0000\u0000\u0000First described in 2018, heterozygous variants of the RHOBTB2 gene, affect the translation of a Rho GTPase protein, essential in neuronal development and synaptic plasticity. The few cases described are characterized by a clinical spectrum of epileptic encephalopathy, psychomotor and cognitive delay, microcephaly, nonspecific facial dysmorphism and movement disorder.\u0000We report a case of a female child, who had two seizures at 28 days of age. She exhibited a normal psychomotor development, until she had another seizure at 6 months, after which she started showing a movement disorder, followed by impair- ment of psychomotor development. Amongst the multiple hospitalizations, one of them was due to status epilepticus with severe rhabdomyolysis. At the age of 7, by ex- ome sequencing, a de novo pathogenic variant was identified in the RHOBTB2 gene.\u0000Although the main characteristics of this syndrome have been described in previous studies, its possible relation with rhabdomyolysis has never been reported.\u0000\u0000\u0000\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141386110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Charcot-Marie-Tooth Type 2 Disease and Relapsing Remitting Multiple Sclerosis Coexistence","authors":"Ana João Marques, Andreia Matas, Andreia Veiga, João Paulo Gabriel","doi":"10.46531/sinapse/cc/230081/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230081/2024","url":null,"abstract":"\u0000\u0000\u0000\u0000Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A.\u0000A 37-year-old woman with CMT type 2 (MFN2 mutation) developed subacute brainstem syndrome (left internuclear ophthalmoplegia, facial palsy and ataxia). Brain magnetic resonance imaging revealed infratentorial, periventricular and subcortical lesions, typical of MS (positive CSF oligoclonal bands, negative anti-aquaporin 4 and anti-MOG antibodies). Patient underwent natalizumab, reaching NEDA-3 – no evidence of disease activity - (3-years follow-up).\u0000Patients with MFN2 mutations may disclose optic atrophy and periventricular white matter T2 signal changes mimicking MS. Notwithstanding, this is, probably, the first report of proven concomitance between both conditions.\u0000\u0000\u0000\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141381904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revistas Médicas: Uma Reflexão","authors":"Victor Oliveira","doi":"10.46531/sinapse/ed/48/2024","DOIUrl":"https://doi.org/10.46531/sinapse/ed/48/2024","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141018769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infectious Meningovasculitis Secondary to a Rectothecal Fistula in a Patient with Crohn’s Disease","authors":"Filipe Godinho, Tiago Oliveira, Carlos Capela","doi":"10.46531/sinapse/in/230053/2024","DOIUrl":"https://doi.org/10.46531/sinapse/in/230053/2024","url":null,"abstract":"We present a case of a 52-year-old male, with a diagnosis of Crohn’s disease with multiple fistulae, with a previous pelvic magnetic resonance imaging (MRI) revealing several bi-lateral perianal fistulae extending to the pre-sacral region, and numerous collections in the retrosacral region, compatible with suppurative hidradenitis. He had never been treated with any immunosuppressive treatment nor had been submitted to surgical intervention.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140745756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropatia Oftalmoplégica Dolorosa Recorrente: Um Desafio Diagnóstico na Idade Pediátrica","authors":"Margarida Camacho Sampaio, Henrique Coimbra Queirós, Filipe Palavra, R. Pais, C. Paiva, Carmen Costa","doi":"10.46531/sinapse/cc/230059/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230059/2024","url":null,"abstract":"\u0000A neuropatia oftalmoplégica dolorosa recorrente (NODR) é uma entidade clínica rara, cuja fisiopatologia não está bem esclarecida. Apresentamos o caso de uma menina que, aos 14 meses, iniciou subitamente ptose palpebral direita e parésia incompleta do nervo oculomotor ipsilateral. A ressonância magnética revelou um espessamento da emergência do referido nervo. Cumpriu tratamento com corticosteróide e, ao longo dos anos, apresentou múltiplos episódios semelhantes, concluindo-se pelo diagnóstico de NDOR. O segundo caso envolve uma adolescente de 17 anos, com antecedentes de enxaqueca episódica e infeção assintomática a SARS-CoV-2, também com ptose palpebral direita, com evolução rápida para parésia incompleta do nervo oculomotor ipsilateral. Consideraram-se a miastenia gravis ocular, uma nevralgia craniana associada à COVID-19 e também a NDOR como hipóteses, não tendo havido recidivas, até ao momento. O reconhecimento da NDOR é difícil. Esta situação pode contribuir para que a sua prevalência esteja subestimada, particularmente na idade pediátrica.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140742494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Cerebellitis or Post-Infectious Cerebellar Ataxia? Approach to Paradigmatic Pediatric Clinical Cases","authors":"Beatriz Nunes, Rui Diogo, Mariana Costa, Cristina Pereira, Joana Afonso Ribeiro, Filipe Palavra, Fernanda Rodrigues, Joana Amaral","doi":"10.46531/sinapse/cc/230079/2024","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230079/2024","url":null,"abstract":"\u0000Acute cerebellitis is a rare disease resulting from dysfunction of the cerebellum or its connections, with infectious or inflammatory causes, varied clinical manifestations, and evidence of predominantly cerebellar inflammation on magnetic resonance imaging (MRI). It belongs to the spectrum of acute post-infectious cerebellar ataxia, a self-limited disease whose therapeutic approach is individualized. Three clinical cases of cerebellar ataxia in pediatric age are described. In case 1, there is a post-infectious context associated with Epstein-Barr virus. In case 2, there is a possible Mycoplasma pneumoniae post-infectious context, with MRI revealing cerebellar inflammation. Steroids were used in both cases. Case 3 presents severe cerebellar post-infection symptoms associated with varicella zoster virus, and human immunoglobulin was given.\u0000Evolution was favorable in all. These cases demonstrate the variable spectrum of post-infectious cerebellar ataxia and the different therapeutic options used, depending on the clinical presentation and individual characteristics of affected children.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140743089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medical Devices for the Management of Patients with Epilepsy","authors":"João Carrola Costa, Leonor Dias, Marta Carvalho","doi":"10.46531/sinapse/ar/230038/2024","DOIUrl":"https://doi.org/10.46531/sinapse/ar/230038/2024","url":null,"abstract":"\u0000The increasing number of medical devices developed and marketed towards management of patients with epilepsy reflects the growing interest in translating technological advances and knowledge about epilepsy into better healthcare for this population.\u0000The objective of this narrative literature review is to analyze the available options of medical devices for detecting, treating, and recording epileptic seizures, and their potential clinical application. The included articles were selected from the PubMed database using the query “(Epilepsy[MeSH Terms]) AND (SUDEP)) AND (Medical Device)) AND (English[Language])”.\u0000The detection of epileptic seizures is essential for early intervention and to optimize the therapy for each patient. In outpatient settings, this detection is further challenging due to their unpredictability. Traditionally electroencephalography is the direct detection method used in a hospital environment. Indirect methods, such as electrocardiogram, photoplethysmography, oximeter, electrodermal activity, accelerometer, and electromyography, have shown potential for detecting seizures in the outpatient setting.\u0000Several medical devices have been developed based on the mentioned methods, with the aim of providing patients with solutions they can use in their daily lives.\u0000Behind-the-ear EEG, wristbands, armbands and bed sensors are some of the designs available. Equipped with different features, these devices can answer the need for early seizure detection and improve patients’ and caregivers’ quality of life.\u0000There are also devices available for the treatment of epileptic seizures. Through neuromodulation techniques such as vagus nerve stimulation, deep brain stimulation, and responsive neurostimulation, these devices are presented as solutions for patients with refractory epilepsy not eligible for ressective surgery. Patients with epilepsy have several apps available online for proper recording of seizures. These apps help doctors optimize therapy based on clinical evolution. The wide range of devices available creates the opportunity to personalize the approach to patient’s specific needs. Understanding each device’s characteristics can help clinicians improve management of patients with epilepsy.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140750747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture","authors":"Mafalda Ferreira dos Santos, Mário Laço, Conceição Robalo, F. Palavra","doi":"10.46531/sinapse/cc/220078/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220078/2023","url":null,"abstract":"\u0000Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is characterized by stimulus-induced myoclonus and seizures without major progressive cognitive deficit, usually presenting during late childhood and early adolescence. It is an autosomal recessive disease, and, so far, only pathogenic variants in the gene encoding cystatin B (CSTB) have been described. We report the case of a 9-year-old boy who presented with generalized tonic-clonic seizures and developed paroxysmal myoclonic events over several years. The patient was started on antiseizure medication, but disease progression resulted in several changes to the therapeutic scheme, with highly variable clinical responses. The genetic study detected the pathogenic variant c.67-1G>C p.(?) in heterozygosity in the CSTB gene, after having identified the typical dodecameric expansion in the other allele, confirming the diagnosis of ULD. \u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140492858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}