Pub Date : 2024-06-05DOI: 10.46531/sinapse/cc/230035/2024
Leonor Ladeira Rodrigues, Patrícia Janeiro, Tiago Proença dos Santos, Joana Coelho
A produção de ATP no corpo humano é dependente da fosforilação oxidativa que, por sua vez, é regulada pelo DNA mitocondrial e nuclear. Mutações 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. Um 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. Reportamos 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.
人体内 ATP 的产生依赖于氧化磷酸化，而氧化磷酸化又受线粒体和核 DNA 的调节。 线粒体电子传递链和氧化磷酸化过程中的基因突变最近被描述为白质营养不良症的病因之一。这种疾病涉及的基因之一是 IBA57 基因（1q42.13），该基因编码一种位于线粒体的蛋白质，它是 Fe/S 簇的一部分。我们报告了一例神经退行性疾病患儿的病例，其影像学表现为白质营养不良。经过基因分析，发现了 IBA57 基因中的两个杂合变体。
{"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}
Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare subtype of CAA characterized by a perivascular inflammatory response to amyloid deposition in the brain. The 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. CAA-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.
{"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}
First 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. We 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. Although the main characteristics of this syndrome have been described in previous studies, its possible relation with rhabdomyolysis has never been reported.
{"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}
Pub Date : 2024-06-05DOI: 10.46531/sinapse/cc/230081/2024
Ana João Marques, Andreia Matas, Andreia Veiga, João Paulo Gabriel
Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A. A 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). Patients 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.
{"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}
Pub Date : 2024-04-04DOI: 10.46531/sinapse/in/230053/2024
Filipe Godinho, Tiago Oliveira, Carlos Capela
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.
{"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}
Pub Date : 2024-04-04DOI: 10.46531/sinapse/cc/230059/2024
Margarida Camacho Sampaio, Henrique Coimbra Queirós, Filipe Palavra, R. Pais, C. Paiva, Carmen Costa
A 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.
{"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}
Acute 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. Evolution 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.
{"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}
Pub Date : 2024-04-02DOI: 10.46531/sinapse/ar/230038/2024
João Carrola Costa, Leonor Dias, Marta Carvalho
The 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. The 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])”. The 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. Several 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. Behind-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. There 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.
为管理癫痫患者而开发和销售的医疗设备越来越多，这反映出人们对将技术进步和癫痫知识转化为更好的医疗保健的兴趣与日俱增。收录的文章是从 PubMed 数据库中筛选出来的，使用的查询条件为"（癫痫[MeSH 术语]） AND (SUDEP))癫痫发作的检测对于早期干预和优化每位患者的治疗至关重要。在门诊环境中，由于癫痫发作的不可预测性，这种检测更具挑战性。传统上，脑电图是医院环境中使用的直接检测方法。耳后脑电图、腕带、臂章和床传感器是其中一些可用的设计。耳后脑电图、腕带、臂带和床上传感器是现有的一些设计。这些设备配备了不同的功能，可以满足早期检测癫痫发作的需要，并改善患者和护理人员的生活质量。通过迷走神经刺激、脑深部刺激和反应性神经刺激等神经调节技术，这些设备可为不符合切除手术条件的难治性癫痫患者提供解决方案。癫痫患者可在网上下载多个应用程序，以正确记录癫痫发作。这些应用程序可帮助医生根据临床演变情况优化治疗。现有设备种类繁多，这为根据患者的具体需求采取个性化治疗方法提供了机会。了解每种设备的特点有助于临床医生改善对癫痫患者的管理。
{"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}
Pub Date : 2024-01-27DOI: 10.46531/sinapse/cc/220078/2023
Mafalda Ferreira dos Santos, Mário Laço, Conceição Robalo, F. Palavra
Unverricht-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.
{"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}
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