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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.
Assuntos
Esclerose Lateral Amiotrófica , Humanos , Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/genética , Neurônios Motores , NeuroimagemRESUMO
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. These findings led to genetic testing, which identified a variant in the TFG gene (c.854â¯C>T;p.(Pro285Leu), confirming the diagnosis of HMSN-P. HMSN-P seemed to be restricted to populations in Okinawa, however, other HMSN-P cases were described in several parts of the world, especially in South America. This case report emphasizes the importance of considering HMSN-P in patients presenting with clinical features resembling proximal myopathy, especially in individuals with Okinawan ancestry.
Assuntos
Neuropatia Hereditária Motora e Sensorial , Doenças Musculares , Feminino , Humanos , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/genética , Brasil , Povo Asiático , LinhagemRESUMO
A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were no systemic manifestations or infections. MR scan of the brain showed extensive enlargement and enhancement of the left optic nerve and optic chiasm. After excluding infections and autoimmune markers, a left optic nerve biopsy confirmed non-caseating granulomas, leading to a diagnosis of neurosarcoidosis.
Assuntos
Doenças do Sistema Nervoso Central , Neurite (Inflamação) , Doenças do Nervo Óptico , Sarcoidose , Feminino , Humanos , Pessoa de Meia-Idade , Doenças do Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/etiologia , Nervo Óptico/patologia , Sarcoidose/complicações , Sarcoidose/diagnóstico por imagem , Neurite (Inflamação)/patologia , CegueiraRESUMO
BACKGROUND: Spontaneous intracranial hypotension (SIH) is a secondary cause of headache and an underdiagnosed disease. The clinical presentation can be highly variable. It typically presents with isolated classic orthostatic headache complaints, but patients can develop significant complications such as cerebral venous thrombosis (CVT). OBJECTIVE: To report 3 cases of SIH diagnosis admitted and treated in a tertiary-level neurology ward. METHODS: Review of the medical files of three patients and description of clinical and surgical outcomes. RESULTS: Three female patients with SIH with a mean age of 25.6 ± 10.0 years old. The patients had orthostatic headache, and one of them presented with somnolence and diplopia because of a CVT. Brain magnetic resonance imaging (MRI) ranges from normal findings to classic findings of SIH as pachymeningeal enhancement and downward displacement of the cerebellar tonsils. Spine MRI showed abnormal epidural fluid collections in all cases, and computed tomography (CT) myelography could determine an identifiable cerebrospinal fluid (CSF) leak in only one patient. One patient received a conservative approach, and the other two were submitted to open surgery with laminoplasty. Both of them had uneventful recovery and remission in surgery follow-up. CONCLUSION: The diagnosis and management of SIH are still a challenge in neurology practice. We highlight in the present study severe cases of incapacitating SIH, complication with CVT, and good outcomes with neurosurgical treatment.
ANTECEDENTES: Hipotensão intracraniana espontânea (HIE) é uma causa secundária de cefaleia e uma doença subdiagnosticada. A apresentação clínica pode ser muito variável. Tipicamente, se apresenta com queixas isoladas de cefaleia ortostática clássica, porém pode evoluir com complicações significativas como trombose venosa cerebral (TVC). OBJETIVO: Relatar 3 casos de diagnóstico de hipotensão intracraniana espontânea manejados em uma enfermaria de neurologia de nível terciário. MéTODOS: Revisão dos prontuários de três pacientes e descrição dos resultados clínicos e cirúrgicos. RESULTADOS: Três pacientes do sexo feminino com média de idade de 25.6 ± 10.0 anos. As pacientes apresentavam cefaleia ortostática e uma delas apresentou sonolência e diplopia devido a TVC. A ressonância magnética (RM) do encéfalo varia de achados normais até achados clássicos de HIE como realce paquimeníngeo e deslocamento inferior das tonsilas cerebelares. A RM da coluna mostrou coleções anormais de líquido epidural em todos os casos e a mielografia por tomografia computadorizada (TC) foi capaz de determinar fístula liquórica identificável em apenas uma paciente. Uma paciente recebeu abordagem conservadora e as outras duas foram submetidas a cirurgia aberta com laminoplastia. Ambas tiveram recuperação e remissão sem intercorrências no seguimento cirúrgico. CONCLUSãO: O diagnóstico e manejo da hipotensão intracraniana ainda são desafios na prática neurológica. Destacamos no presente estudo casos graves, complicação com TVC e bons resultados com tratamento neurocirúrgico.
Assuntos
Hipotensão Intracraniana , Trombose Venosa , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Hipotensão Intracraniana/diagnóstico por imagem , Hipotensão Intracraniana/etiologia , Hipotensão Intracraniana/cirurgia , Brasil , Vazamento de Líquido Cefalorraquidiano/diagnóstico por imagem , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/cirurgia , Imageamento por Ressonância Magnética , Cefaleia/cirurgia , Cefaleia/complicações , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/etiologia , Trombose Venosa/cirurgia , Atenção à SaúdeRESUMO
Abstract Background Spontaneous intracranial hypotension (SIH) is a secondary cause of headache and an underdiagnosed disease. The clinical presentation can be highly variable. It typically presents with isolated classic orthostatic headache complaints, but patients can develop significant complications such as cerebral venous thrombosis (CVT). Objective To report 3 cases of SIH diagnosis admitted and treated in a tertiary-level neurology ward. Methods Review of the medical files of three patients and description of clinical and surgical outcomes. Results Three female patients with SIH with a mean age of 25.6 ± 10.0 years old. The patients had orthostatic headache, and one of them presented with somnolence and diplopia because of a CVT. Brain magnetic resonance imaging (MRI) ranges from normal findings to classic findings of SIH as pachymeningeal enhancement and downward displacement of the cerebellar tonsils. Spine MRI showed abnormal epidural fluid collections in all cases, and computed tomography (CT) myelography could determine an identifiable cerebrospinal fluid (CSF) leak in only one patient. One patient received a conservative approach, and the other two were submitted to open surgery with lamino-plasty. Both of them had uneventful recovery and remission in surgery follow-up. Conclusion The diagnosis and management of SIH are still a challenge in neurology practice. We highlight in the present study severe cases of incapacitating SIH, complication with CVT, and good outcomes with neurosurgical treatment.
Resumo Antecedentes Hipotensão intracraniana espontânea (HIE) é uma causa secundária de cefaleia e uma doença subdiagnosticada. A apresentação clínica pode ser muito variável. Tipicamente, se apresenta com queixas isoladas de cefaleia ortostática clássica, porém pode evoluir com complicações significativas como trombose venosa cerebral (TVC). Objetivo Relatar 3 casos de diagnóstico de hipotensão intracraniana espontânea manejados em uma enfermaria de neurologia de nível terciário. Métodos Revisão dos prontuários de três pacientes e descrição dos resultados clínicos e cirúrgicos. Resultados Três pacientes do sexo feminino com média de idade de 25.6 ± 10.0 anos. As pacientes apresentavam cefaleia ortostática e uma delas apresentou sonolência e diplopia devido a TVC. A ressonância magnética (RM) do encéfalo varia de achados normais até achados clássicos de HIE como realce paquimeníngeo e deslocamento inferior das tonsilas cerebelares. A RM da coluna mostrou coleções anormais de líquido epidural em todos os casos e a mielografia por tomografia computadorizada (TC) foi capaz de determinar fístula liquórica identificável em apenas uma paciente. Uma paciente recebeu abordagem conservadora e as outras duas foram submetidas a cirurgia aberta com laminoplastia. Ambas tiveram recuperação e remissão sem intercorrências no seguimento cirúrgico. Conclusão O diagnóstico e manejo da hipotensão intracraniana ainda são desafios na prática neurológica. Destacamos no presente estudo casos graves, complicação com TVC e bons resultados com tratamento neurocirúrgico.
RESUMO
BACKGROUND: Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. OBJECTIVES: To fully characterize, both phenotypically and genotypically, NDUFA12-related mitochondrial disease. METHODS: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. RESULTS: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. CONCLUSIONS: Our case series expands phenotype-genotype correlations in NDUFA12-associated mitochondrial disease, providing evidence of intra- and inter-familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy.
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BACKGROUND: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited. METHODS: We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria. RESULTS: Patient characteristics included microcephaly (41.5% of patients), seizures (74.1%), bilateral cleft (41.4%), open lip (61.3%), septo-optic dysplasia (69.1%), and ventricular dilation (60.5%). The majority of clefts were in the frontal and parietal lobes. When these potential association factors were assessed by univariate logistic regression microcephaly (ORâ¯=â¯21.75, P < 0.001), corpus callosum agenesis (ORâ¯=â¯9, P < 0.001), motor impairments (ORâ¯=â¯6.21, P < 0.001), and bilateral clefts (ORâ¯=â¯6.31, P < 0.001) seems to have the strongest association, but also age at diagnosis <10 years (ORâ¯=â¯1.05, P < 0.001), right (ORâ¯=â¯1.85, P = 0.001) or left (ORâ¯=â¯2.71, P < 0.001) side clefts and septum pellucidum (ORâ¯=â¯3.7, P = 0.002) agenesis were associated with neurocognitive dysfunctions. CONCLUSIONS: We describe novel findings with practical implications for predicting neurocognitive outcomes in patients with schizencephaly. Most patients had neurological impairments including motor (90.0%) or cognitive (77.5%) dysfunctions. Bilateral clefts, motor impairment, microcephaly, and corpus callosum agenesis were strongly associated with neurocognitive impairment. A lack of large cohorts of patients with schizencephaly prevented comparison of our results; most previous studies are case reports or small case series.
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Disfunção Cognitiva/etiologia , Transtornos Motores/etiologia , Esquizencefalia/complicações , Esquizencefalia/patologia , HumanosRESUMO
BACKGROUND: This study identified and summarized all Cochrane systematic reviews (SRs) on the effects of ten integrative practices that were recently added to the Brazilian public healthcare system (SUS). DESIGN AND SETTING: Review of systematic reviews, conducted in the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina (EPM), Universidade Federal de São Paulo (Unifesp). METHODS: Review of Cochrane SRs on the following interventions were identified, summarized and critically assessed: apitherapy, aromatherapy, bioenergetics, family constellation, flower therapy, chromotherapy, geotherapy, hypnotherapy, hand imposition or ozone therapy. RESULTS: We included a total of 16 SRs: 4 on apitherapy, 4 on aromatherapy, 6 on hypnotherapy and 2 on ozone therapy. No Cochrane SR was found regarding bioenergetics, family constellation, chromotherapy, clay therapy, flower therapy or hand imposition. The only high-quality evidence was in relation to the potential benefit of apitherapy, specifically regarding some benefits from honey dressings for partial healing of burn wounds, for reduction of coughing among children with acute coughs and for preventing allergic reactions to insect stings. CONCLUSION: Except for some specific uses of apitherapy (honey for burn wounds and for acute coughs and bee venom for allergic reactions to insect stings), the use of ten integrative practices that have recently been incorporated into SUS does not seem to be supported by evidence from Cochrane SRs.
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Medicina Integrativa/métodos , Literatura de Revisão como Assunto , Apiterapia/métodos , Aromaterapia/métodos , Medicina Baseada em Evidências/normas , Humanos , Hipnose/métodos , Ozônio/uso terapêuticoRESUMO
ABSTRACT BACKGROUND: This study identified and summarized all Cochrane systematic reviews (SRs) on the effects of ten integrative practices that were recently added to the Brazilian public healthcare system (SUS). DESIGN AND SETTING: Review of systematic reviews, conducted in the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina (EPM), Universidade Federal de São Paulo (Unifesp). METHODS: Review of Cochrane SRs on the following interventions were identified, summarized and critically assessed: apitherapy, aromatherapy, bioenergetics, family constellation, flower therapy, chromotherapy, geotherapy, hypnotherapy, hand imposition or ozone therapy. RESULTS: We included a total of 16 SRs: 4 on apitherapy, 4 on aromatherapy, 6 on hypnotherapy and 2 on ozone therapy. No Cochrane SR was found regarding bioenergetics, family constellation, chromotherapy, clay therapy, flower therapy or hand imposition. The only high-quality evidence was in relation to the potential benefit of apitherapy, specifically regarding some benefits from honey dressings for partial healing of burn wounds, for reduction of coughing among children with acute coughs and for preventing allergic reactions to insect stings. CONCLUSION: Except for some specific uses of apitherapy (honey for burn wounds and for acute coughs and bee venom for allergic reactions to insect stings), the use of ten integrative practices that have recently been incorporated into SUS does not seem to be supported by evidence from Cochrane SRs.
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Humanos , Literatura de Revisão como Assunto , Medicina Integrativa/métodos , Ozônio/uso terapêutico , Aromaterapia/métodos , Medicina Baseada em Evidências/normas , Apiterapia/métodos , Hipnose/métodosRESUMO
Introdução Distúrbios neurológicos e neurocirúrgicos são altamente prevalentes no Brasil. O atendimento inicial é realizado por médicos generalistas, o que demonstra a importância dos estudos práticos e teóricos em neurologia e neurocirurgia nos cursos de graduação em medicina. Objetivos Descrever a escolha da especialidade médica dos formandos da Liga Acadêmica de Neurocirurgia da Escola Paulista de Medicina (LNC-EPM) e mapear a composição dos cursos de neurologia e/ou neurocirurgia e a presença de ligas acadêmicas dessas disciplinas nas escolas médicas do Brasil. Métodos Levantamento pessoal ou por rede social com todos os membros da liga de neurocirurgia da EPM de 2007 a 2015 quanto a conclusão do curso e a residência escolhida. Envio de um formulário online para todas as escolas médicas cadastradas no Conselho Federal de Medicina (CFM). Resultados e Discussão Cinquenta e sete graduandos de medicina já participaram da LNC-EPM, sendo que 45 já concluíram a graduação, 6 fizeram neurocirurgia e 5 neurologia. Conseguimos respostas de 128 das 173 escolas médicas cadastradas no CFM. Um total de 91% das escolas respondeu que possuem curso de neurologia estruturado. Esses cursos dividem-se em: 32 exclusivamente teóricos, com 12 abordando a neurocirurgia; 84 teórico-práticos, com 51 abordando a neurocirurgia. Apenas 19% das faculdades apresentam curso próprio estruturado de neurocirurgia, sendo que metade destes é apenas teórico. Um total de 66% das universidades tem liga acadêmica das disciplinas citadas. Conclusão Nota-se que a presença de ligas acadêmicas de neurologia e neurocirurgia em 66% das escolas médicas brasileiras é, muitas vezes, usada para suprir conhecimento teórico-prático que deveria ser abordado na graduação. Infelizmente, apenas 9,5% das escolas tem curso teórico-prático próprio de neurocirurgia na grade curricular, um fato que é preocupante devido à alta prevalência das doenças neurológicas na população.
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Humanos , Masculino , Feminino , Educação de Graduação em Medicina , Neurologia/educação , Neurocirurgia/educaçãoRESUMO
AIM: Dissection of white fibers is important in identifying detailed neuroanatomical relationships. With tractrography it is possible to transport and apply this knowledge in a practical way to treat many diseases involving the white matter. MATERIAL AND METHODS: The Klingler method, subsequently disseminated by Türe with slight modifications was used. RESULTS: We review some historical aspects of white fibers and provide a guide for dissection of the internal capsule. The removal of gray matter allowed us to obtain a view of the white matter. We removed all U-shaped fibers to expose the insular cortex. The cortex of the insular lobe was removed, which exposed the extreme capsule. The removal of the claustrum exposed the external capsule, which covers the lentiform nucleus, specifically the putamen. During dissection, removing some fibers of the external capsule produced windows in which the putamen could be medially visualized. Since the internal capsule lies medial to the lentiform nucleus, it was necessary to remove the nucleus in order to expose the internal capsule. We identified five regions of the internal capsule: the anterior limb, genu, posterior limb, and sublenticular and retrolenticular parts. Finally, we determined that the fibers of the corona radiata condense into the internal capsule at the level of the superior border of the lentiform nucleus. CONCLUSION: Knowledge gained with the cadaveric fiber dissection technique can be applied in microsurgical practice and can be used to evaluate the surgical treatment for different tumors and vascular malformations.
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Dissecação/métodos , Cápsula Interna/anatomia & histologia , Cadáver , HumanosRESUMO
BACKGROUND: Probiotics have been used for a range of clinical situations and their use is strongly encouraged by the media worldwide. This study identified and summarized all Cochrane systematic reviews about the preventive effects of probiotics in clinical practice. DESIGN AND SETTING: Review of systematic reviews, conducted in the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina (EPM), Universidade Federal de São Paulo (Unifesp). METHODS: We included all Cochrane reviews on any probiotics when they were used as preventive interventions and compared with no intervention, placebo or any other pharmacological or non-pharmacological intervention. RESULTS: 17 Cochrane systematic reviews fulfilled our inclusion criteria and were summarized in this report. None of the reviews included in the present study provided high-quality evidence for any outcome. The benefits from use of probiotics included decreased incidence of antibiotic-associated diarrhea and Clostridium difficile-associated diarrhea; decreased incidence of upper respiratory tract infections and duration of episodes; decreased need for antibiotics and absences from school due to colds; and decreased incidence of ventilator-associated pneumonia. Probiotics seem to decrease the incidence of gestational diabetes mellitus, birthweight, risk of vaginal infection and incidence of eczema. CONCLUSION: Despite the marketing and the benefits associated with probiotics, there is little scientific evidence supporting the use of probiotics. None of the reviews provided any high-quality evidence for prevention of illnesses through use of probiotics. More trials are needed to gain better knowledge of probiotics and to confirm when their use is beneficial and cost-effective.
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Diarreia , Probióticos , Antibacterianos , Medicina Baseada em Evidências , Feminino , Incidência , GravidezRESUMO
ABSTRACT BACKGROUND: Probiotics have been used for a range of clinical situations and their use is strongly encouraged by the media worldwide. This study identified and summarized all Cochrane systematic reviews about the preventive effects of probiotics in clinical practice. DESIGN AND SETTING: Review of systematic reviews, conducted in the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina (EPM), Universidade Federal de São Paulo (Unifesp). METHODS: We included all Cochrane reviews on any probiotics when they were used as preventive interventions and compared with no intervention, placebo or any other pharmacological or non-pharmacological intervention. RESULTS: 17 Cochrane systematic reviews fulfilled our inclusion criteria and were summarized in this report. None of the reviews included in the present study provided high-quality evidence for any outcome. The benefits from use of probiotics included decreased incidence of antibiotic-associated diarrhea and Clostridium difficile-associated diarrhea; decreased incidence of upper respiratory tract infections and duration of episodes; decreased need for antibiotics and absences from school due to colds; and decreased incidence of ventilator-associated pneumonia. Probiotics seem to decrease the incidence of gestational diabetes mellitus, birthweight, risk of vaginal infection and incidence of eczema. CONCLUSION: Despite the marketing and the benefits associated with probiotics, there is little scientific evidence supporting the use of probiotics. None of the reviews provided any high-quality evidence for prevention of illnesses through use of probiotics. More trials are needed to gain better knowledge of probiotics and to confirm when their use is beneficial and cost-effective.