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1.
Ideggyogy Sz ; 73(1-2): 65-69, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-32057207

RESUMO

Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. We report three patients who had history of chronic alcoholism, different clinical presentation and MRI findings consistent with the diagnosis of Marchiafava-Bignami disease.


Assuntos
Alcoolismo , Doença de Marchiafava-Bignami , Alcoolismo/complicações , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Humanos , Imagem por Ressonância Magnética , Doença de Marchiafava-Bignami/complicações , Doença de Marchiafava-Bignami/diagnóstico por imagem , Necrose
2.
World Neurosurg ; 135: 306-307, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31899396

RESUMO

Cytotoxic lesions of the corpus callosum will be present in a wide range of clinical conditions. The term "cytotoxic lesions of the corpus callosum" reflects our current understanding of the underlying pathophysiology of these lesions and does not necessarily imply confinement to the splenium. Because the symptoms vary and are not specific, the clinical diagnosis can be difficult. Brain magnetic resonance imaging will be of pivotal value in the investigation. We report the case of a patient with obsessive-compulsive disorder who underwent bilateral deep brain stimulation of the nucleus accumbens and developed infection along the surgical path of both electrodes associated with a cytotoxic lesion in the splenium of corpus callosum.


Assuntos
Encefalopatias/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Neuroestimuladores Implantáveis , Implantação de Prótese , Infecções Estafilocócicas/diagnóstico , Infecção da Ferida Cirúrgica/diagnóstico , Adulto , Antibacterianos/uso terapêutico , Encefalopatias/complicações , Claritromicina/uso terapêutico , Estimulação Encefálica Profunda , Imagem de Difusão por Ressonância Magnética , Humanos , Imagem por Ressonância Magnética , Masculino , Transtorno Obsessivo-Compulsivo/terapia , Infecções Estafilocócicas/complicações , Infecções Estafilocócicas/tratamento farmacológico , Staphylococcus aureus , Infecção da Ferida Cirúrgica/complicações , Infecção da Ferida Cirúrgica/tratamento farmacológico , Tomografia Computadorizada por Raios X
3.
Dev Med Child Neurol ; 62(1): 125-131, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31393613

RESUMO

AIM: To examine if congenital visual impairment is associated with differences in brain anatomy in children. METHOD: Ten children (8-12y) with congenital disorders of the peripheral visual system with severe visual impairment (SVI; >0.8 logMAR) or mild-to-moderate visual impairment (MVI; 0.6-0.8 logMAR) were compared to 21 typically sighted comparison (TSC) children. Thalamus volume, grey matter density, white matter microstructure, and integrity of visual tracts were investigated in SVI, MVI, and TSC groups with anatomical and diffusion-weighted magnetic resonance imaging. RESULTS: Compared to the TSC group, the SVI group had lower white matter integrity in tracts of the visual system (optic radiations: SVI 0.35±0.015, TSC 0.39±0.007 [p=0.022]; posterior corpus callosum: SVI 0.37±0.019; TSC 0.42±0.009 [p=0.033]) and lower left thalamus volume (SVI 4.37±0.087; TSC 4.99±0.339 [p=0.015]). Neuroanatomical differences were greater in the SVI group, while no consistent differences between the MVI and TSC group were observed. INTERPRETATION: Posterior tracts of the visual system are compromised in children with congenital visual impairment versus those who are typically sighted. The severity of visual input appears to have affected neuroanatomical development as significant reductions were only found in the SVI group. WHAT THIS PAPER ADDS: Severe visual impairment in mid-childhood is associated with reduced integrity of visual pathways and reduced thalamus volume.


Assuntos
Corpo Caloso/patologia , Tálamo/patologia , Transtornos da Visão/congênito , Transtornos da Visão/patologia , Vias Visuais/patologia , Substância Branca/patologia , Criança , Corpo Caloso/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Índice de Gravidade de Doença , Tálamo/diagnóstico por imagem , Transtornos da Visão/diagnóstico por imagem , Vias Visuais/diagnóstico por imagem , Substância Branca/diagnóstico por imagem
4.
Medicine (Baltimore) ; 98(44): e17638, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689772

RESUMO

INTRODUCTION: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) was shown to have a transient reduction in diffusion. Such changes would be used as an early detection to reduce excessive treatments and promote recovery without sequelae. The current research evaluated the high b-value (b = 3000 s/mm) diffusion-weighted imaging (DWI) assessment in MERS. METHODS: Sixteen pediatric patients showed MERS used DWI (b = 1000 and 3000 s/mm). To record number of lesions, the signal intensities, signal-to-noise ratios (SNRs), contrast-to-noise ratios (CNRs), contrast ratios (CRs), the apparent diffusion coefficients (ADCs) were measured in the normal parenchyma and lesions. RESULTS: Lesions were more apparent with high b-value. The ADC values and CNR in the lesions and surrounding normal brain parenchyma were relatively low at a high compared to standard b-value DWI (SNR: 144.67 ±â€Š33.03, 85.72 ±â€Š31.50; CNR: 20.82 ±â€Š17.64, 49.62 ±â€Š33.06; for b = 1000 and 3000 s/mm). The CR was significantly higher at a high compared to low b-value DWI (CR: 0.06 ±â€Š0.07 versus 0.40 ±â€Š0.14). CONCLUSION: High b-value DWI could detect more lesions and could obviously improve the detection of lesions in pediatric patients with MERS.


Assuntos
Encefalopatias/diagnóstico , Encefalopatias/patologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Encefalopatias/diagnóstico por imagem , Criança , China , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Estudos Retrospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Razão Sinal-Ruído
5.
Rinsho Shinkeigaku ; 59(10): 666-668, 2019 Oct 26.
Artigo em Japonês | MEDLINE | ID: mdl-31564706

RESUMO

A 17-year-old woman was admitted to our hospital because of a high fever, consciousness disturbance, and delirious behavior. Methicillin susceptible Staphylococcus aureus (MSSA) infection was confirmed by blood culture. Transthoracic echocardiogram showed no abnormality at first. Diffusion-weighted brain MRI showed a high intensity lesion in the middle portion of the splenium, which was shown as low intensity on apparent diffusion coefficient map. Then, antibiotics therapy was started against suspected bacterial meningitis, while the lumbar puncture was not performed because of the decreased number of platelets. Since the systolic murmur appeared at the apex on day 12, the diagnosis with infectious endocarditis was made by transthoracic echocardiogram. The MRI abnormalities disappeared on day 16 and we diagnosed her with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with infectious endocarditis. This case suggests that MERS can occur associated with infectious endocarditis caused by Staphylococcus aureus.


Assuntos
Endocardite Bacteriana/microbiologia , Endocardite Bacteriana/terapia , Encefalite Infecciosa/microbiologia , Infecções Estafilocócicas , Staphylococcus aureus , Adolescente , Antibacterianos/administração & dosagem , Corpo Caloso/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Quimioterapia Combinada , Ecocardiografia , Endocardite Bacteriana/complicações , Endocardite Bacteriana/diagnóstico por imagem , Feminino , Humanos , Encefalite Infecciosa/diagnóstico por imagem , Encefalite Infecciosa/tratamento farmacológico , Encefalite Infecciosa/etiologia , Meropeném/administração & dosagem , Anuloplastia da Valva Mitral , Índice de Gravidade de Doença , Resultado do Tratamento , Vancomicina/administração & dosagem
6.
Medicine (Baltimore) ; 98(41): e17467, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593106

RESUMO

BACKGROUND: We investigated differences in corpus callosum (CC) injuries between patients with concussion and those with diffuse axonal injury (DAI) by using diffusion tensor tractography (DTT). METHODS: Twenty-nine patients with concussion, 21 patients with DAI, and 25 control subjects were recruited. We reconstructed the whole CC and 5 regions of the CC after applying Hofer classification (I, II, III, IV, and V). The whole CC and each region of the CC were analyzed to measure DTT parameters (fractional anisotropy [FA], apparent diffusion coefficient [ADC], and fiber number [FN]). RESULTS: In the whole CC, significant differences were observed in all DTT parameters between the concussion and control groups and the DAI and control groups (P < .05). Among the 5 regions of the CC, significant differences were observed in FA and ADC between the concussion and control groups and the DAI and control groups (P < .05). Significant differences in FN were observed in CC regions I and II (connected with the prefrontal lobe and secondary motor area) between the concussion and control groups, in CC regions I, II, III, and IV (connected with the frontoparietal lobes) between the DAI and control groups, and in CC regions III, IV (connected with the motor-sensory cortex) between the concussion and DAI groups (P < .05). CONCLUSION: It was observed that both concussion and DAI patients showed diffuse neural injuries in the whole CC and all 5 regions of the CC. Neural FN results revealed that concussion patients appeared to be specifically injured in the anterior part of the CC connected with the frontal lobe, whereas DAI patients were injured in more diffuse regions connected with whole frontoparietal lobes.


Assuntos
Concussão Encefálica/diagnóstico por imagem , Lesões Encefálicas Traumáticas/diagnóstico por imagem , Corpo Caloso/lesões , Lesão Axonal Difusa/diagnóstico por imagem , Imagem de Tensor de Difusão/métodos , Adulto , Idoso , Concussão Encefálica/etiologia , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
8.
Medicine (Baltimore) ; 98(34): e16891, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31441866

RESUMO

RATIONALE: Alien Hand syndrome (AHS) is characterized in most patients by seemingly purposeful, involuntary movements of the extremities. It is not well known among physicians on account of its diverse clinical manifestations. PATIENT CONCERNS: We present a 57-year-old Chinese man who could not stop or turn himself around as he involuntarily and uncontrollably walked forward, which had happened frequently in the month prior to treatment. He had been a heavy drinker for thirty years before the onset of the disease, with an alcohol intake of 600 to 800 ml/day. DIAGNOSES: History of alcohol intake and the brain magnetic resonance imaging findings indicated a diagnosis of Marchiafava-Bignami disease. The patient was additionally diagnosed with Alien Hand Syndrome according to his clinical symptoms. INTERVENTIONS: The patient was treated with high doses of vitamin B for 1 month. OUTCOMES: The patient's abnormal behaviors never appeared during the treatment, and no instance of recurrence was observed during the 6 months of follow-up. LESSONS: The clinical manifestation of AHS is non-specific. Only by considering its diverse manifestation can doctors better understand the disease and achieve early intervention.


Assuntos
Síndrome da Mão Alienígena/etiologia , Doença de Marchiafava-Bignami/complicações , Doença de Marchiafava-Bignami/diagnóstico , Alcoolismo/complicações , Síndrome da Mão Alienígena/diagnóstico , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Humanos , Imagem por Ressonância Magnética , Masculino , Doença de Marchiafava-Bignami/tratamento farmacológico , Pessoa de Meia-Idade , Tiamina/uso terapêutico , Complexo Vitamínico B/uso terapêutico
9.
BMJ Case Rep ; 12(8)2019 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-31451466

RESUMO

Marchiafava-Bignami disease (MBD) is a rare complication of chronic alcoholism; however, MBD in a non-alcoholic diabetic patient has rarely been reported. The aetiology or pathophysiology of MBD is still unknown. A 50-year-old man with a history of untreated diabetes mellitus underwent on-pump beating coronary artery bypass graft surgery (CABG) surgery for three-vessel and left main coronary disease. 3 days after the surgery, he developed a fever over 40°C and entered a coma state. MRI revealed multiple lesions, including in the corpus callosum, globus pallidus, brain stem and upper cervical spinal cord, which suggested MBD. The patient did not respond to thiamine therapy, but partly responded to steroid therapy. He ultimately died of respiratory failure. The autopsy revealed MBD and haemophagocytic lymphohistiocytosis. It is rare, but systemic inflammatory response syndrome induced by on-pump beating CABG could develop these complication.


Assuntos
Ponte de Artéria Coronária sem Circulação Extracorpórea/efeitos adversos , Corpo Caloso/diagnóstico por imagem , Linfo-Histiocitose Hemofagocítica , Doença de Marchiafava-Bignami , Complicações Pós-Operatórias , Autopsia/métodos , Encéfalo/diagnóstico por imagem , Ponte de Artéria Coronária sem Circulação Extracorpórea/métodos , Doença da Artéria Coronariana/cirurgia , Evolução Fatal , Humanos , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/patologia , Imagem por Ressonância Magnética/métodos , Masculino , Doença de Marchiafava-Bignami/diagnóstico , Doença de Marchiafava-Bignami/etiologia , Doença de Marchiafava-Bignami/fisiopatologia , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia
10.
Dement Geriatr Cogn Disord ; 47(4-6): 375-384, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31466053

RESUMO

BACKGROUND: An increasing number of studies suggest the importance of prospective memory (ProM) due to its functional relevance and sensitivity to neuropathology. However, its relevant neural substrates have not been sufficiently explored. OBJECTIVES: The present study aimed to investigate the relationship between structural connectivity and both objective and subjective ProM measures in a group of non-demented people with subjective memory complaints, and to examine the potential of ProM measures to detect the difference between subjective cognitive decline (SCD) and mild cognitive impairment (MCI) in the pre-dementia stage. METHOD: Thirty-sevennon-dementedparticipants aged above 50 years were recruited from an outpatient Neurology Clinic; 13 of them fulfilled the criteria of MCI and 24 of SCD. All subjects received comprehensive neuropsychological tests, including the adapted version of the Cambridge Prospective Memory Test, as well as the Taiwan version of the Prospective and Retrospective Memory Questionnaire. The diffusion tensor imaging technique with tract-based spatial statistics was applied to measure cerebral microstructural changes. RESULTS: Time-based ProM performance was significantly correlated with microstructural integrity of the right superior longitudinal fasciculus, while the event-based one was associated with that of the left superior longitudinal fasciculus and the genu of the corpus callosum among all participants and in the SCD group. After controlling for age, the correlation remained significant between event-based ProM performance and the left superior longitudinal fasciculus among all participants and in the MCI group, as well as between event-based ProM performance and the genu among all participants. Although self-reported ProM failures in real life was associated with fiber disruption of the left superior longitudinal fasciculus among all participants and within the MCI group, an inverse relationship was also observed with that of the corpus callosum in the SCD group even after controlling for age. As compared to the SCD group, people with MCI performed significantly worse on time-based ProM tasks and reported more ProM failures in daily life. CONCLUSIONS: ProM was related to the integrity of interhemispheric commissural fibers and association fibers that connect the frontal lobe with posterior regions, with a task-specific laterality effect. Time-based ProM tasks and self-reported ProM questionnaire may be sensitive to early pathological cognitive deterioration, while the concomitant aging process and individual awareness level may respectively confound the results of evaluation.


Assuntos
Lateralidade Funcional , Transtornos da Memória/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Corpo Caloso/diagnóstico por imagem , Imagem de Tensor de Difusão , Feminino , Lobo Frontal/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Transtornos da Memória/psicologia , Pessoa de Meia-Idade , Fibras Nervosas , Testes Neuropsicológicos , Estudos Retrospectivos , Inquéritos e Questionários , Taiwan
12.
Neuroimaging Clin N Am ; 29(3): 445-459, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31256865

RESUMO

The corpus callosum is the largest of the 3 telencephalic commissures in eutherian (placental) mammals. Although the anterior commissure, and the hippocampal commissure before being pushed dorsally by the expanding frontal lobes, cross through the lamina reuniens (upper part of the lamina terminalis), the callosal fibers need a transient interhemispheric cellular bridge to cross. This review describes the molecular pathways that initiate the specification of the cells comprising this bridge, the specification of the callosal neurons, and the repulsive and attractive guidance molecules that convey the callosal axons toward, across, and away from the midline to connect with their targets.


Assuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Neuroimagem/métodos , Animais , Corpo Caloso/diagnóstico por imagem , Humanos , Camundongos
13.
World Neurosurg ; 131: 213-216, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31295608

RESUMO

BACKGROUND: A foreign object penetrating the brain via orbit is a rare occurrence. Accurate diagnosis and immediate intervention is essential to prevent ophthalmic or neurological deficits and to reduce chances of infection or hemorrhage. CASE DESCRIPTION: We report 2 cases of transorbital orbitocranial penetrating injury of metal objects in children. Computed tomography scan was obtained to assess the extent of the injury and to locate the objects. According to the trajectory, the best craniotomy approach was performed, and the objects were safely removed without any complication. Our cases are unique because of the absence of any neurological deficit on admission, before and after the removal. CONCLUSIONS: The importance of transorbital orbitocranial penetrating injury cannot be neglected because of possible orbital and intracranial damage. Therefore, in this report we aim to heighten awareness of the complexity and severity of transorbital penetrating brain injury.


Assuntos
Traumatismos Cranianos Penetrantes/cirurgia , Órbita/lesões , Ferimentos Perfurantes/cirurgia , Pré-Escolar , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/lesões , Craniotomia/métodos , Ferimentos Oculares Penetrantes/cirurgia , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/lesões , Traumatismos Cranianos Penetrantes/diagnóstico por imagem , Humanos , Masculino , Base do Crânio/lesões , Tomografia Computadorizada por Raios X , Ferimentos Perfurantes/diagnóstico por imagem
15.
Nat Commun ; 10(1): 2966, 2019 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-31273213

RESUMO

Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso/genética , Corpo Caloso/crescimento & desenvolvimento , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteína SMARCB1/genética , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Alelos , Animais , Criança , Pré-Escolar , Corpo Caloso/citologia , Corpo Caloso/diagnóstico por imagem , Modelos Animais de Doenças , Embrião de Mamíferos , Face/diagnóstico por imagem , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Mutação com Perda de Função , Imagem por Ressonância Magnética , Masculino , Camundongos , Camundongos Transgênicos , Micrognatismo/diagnóstico por imagem , Pescoço/diagnóstico por imagem , Neuroglia/patologia , Cultura Primária de Células
16.
J Neurooncol ; 144(1): 165-177, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31264025

RESUMO

PURPOSE: Corpus callosum (CC) is a main channel histologically for glioma spreading, downgrading the prognosis, the infiltration occurring through cellular reaction-diffusion process. Preliminary clinical trial indicates that CC's surgical interruption appreciably enhances clinical outcome. We aim to find how high-grade glioma phenomenology is reflected in CC parameters, including various 3D diffusion eigenvalues differentially, whereby this information may be utilized for planning radiotherapy and surgical intervention. METHODS: Using 3 Tesla MRI diffusion-tensor imaging of glioma patients and matched controls, we formulated the callosal volume, fibre count, and 3D directional diffusivity eigenvalues (λ1-λ2-λ3), utilizing FDT/FMRIB-based analysis. RESULTS: In glioma, the callosal volume, fibre count and normalized volume decreases (p < 0.001), while axial diffusivity λ1 and radial diffusivity component λ2 significantly increase (p = 0.03, p = 0.04). Though not expected, the other radial diffusivity component λ3 remains unchanged (p = 0.11). Increase of λ1 and λ2 is due to gliomatous migration across the two directions (eigenvectors of λ1, λ2), which correlate respectively with medio-lateral commissural fibres and dorso-ventral perforating fibres in CC. These are corroborated by collateral radiological findings and immunohistological staining of those two fibre-systems in cat and human. CONCLUSION: In glioma, the two diffusivities (λ1, λ2), enhance due to fluidic edema permeation through CC's bi-axial lamina-type structural scaffold, formed by mediolateral commissural fibres and dorsoventral perforating cingulo-septal fibres. On other hand, the two radial diffusivities (λ2, λ3) are physiologically different and can be distinguished as lamellar diffusivity and focal diffusivity respectively. Lamellar diffusivity λ2 needs to be considered for MRI-assisted surgical intervention and radiotherapy planning in glioma.


Assuntos
Encéfalo/patologia , Corpo Caloso/patologia , Imagem de Tensor de Difusão/métodos , Glioma/patologia , Processamento de Imagem Assistida por Computador/métodos , Adulto , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Corpo Caloso/diagnóstico por imagem , Feminino , Seguimentos , Glioma/diagnóstico por imagem , Humanos , Masculino , Prognóstico
17.
World Neurosurg ; 130: e880-e887, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31301441

RESUMO

BACKGROUND: The basal ganglia and thalamus are uncommon locations for infiltrating gliomas. Tumors here are usually managed with biopsy and adjuvant therapy, with relatively poor results. Rarely do patients undergo extensive surgical intervention. It seems reasonable to suggest that successful cytoreduction may help these patients. However, this hypothesis has not been studied because of the general view that it is not possible to remove deep-seated brain tumors with acceptable outcomes. METHODS: Through retrospective data collection, we describe a small case series of patients undergoing awake contralateral, transcallosal surgery for deep-seated brain tumors affecting the basal ganglia. We describe our patient cohort, report on patient outcomes, and describe our surgical technique. RESULTS: Four patients underwent awake contralateral, transcallosal surgery for glioblastoma invading the basal ganglia. All 4 patients demonstrated hemibody weakness contralateral to the side of their tumors, with 3 patients confined to wheelchairs at presentation. Their ages ranged from 25 to 64 years. Tumor volumes ranged from 14 to 93 cm3. More than 50% resection of each tumor was achieved during surgery. In 2 cases, approximately 90% resection was achieved. Motor strength improved in 1 patient who presented with hemiplegia. Two patients required ventriculoperitoneal shunting for complications related to hydrocephalus. At the writing of this article, 2 of our patients were still alive, functional, and free of tumor progression. CONCLUSIONS: We present the results of our attempts to resect large gliomas infiltrating the basal ganglia in 4 patients. Our technique combined a contralateral, transcallosal approach with awake neuromonitoring. Our results suggest it is possible to remove these tumors with reasonable outcomes.


Assuntos
Gânglios da Base/cirurgia , Neoplasias Encefálicas/cirurgia , Corpo Caloso/cirurgia , Glioma/cirurgia , Procedimentos Neurocirúrgicos/métodos , Vigília , Adulto , Gânglios da Base/diagnóstico por imagem , Neoplasias Encefálicas/diagnóstico por imagem , Estudos de Coortes , Corpo Caloso/diagnóstico por imagem , Feminino , Seguimentos , Glioma/diagnóstico por imagem , Humanos , Monitorização Neurofisiológica Intraoperatória/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
18.
BMC Med Genet ; 20(1): 112, 2019 06 24.
Artigo em Inglês | MEDLINE | ID: mdl-31234783

RESUMO

BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of identifying novel SOD-associated genes. CASE PRESENTATION: To identify the disease-causing gene in a male infant with neonatal hypoglycaemia, dysmorphic features, and hypoplasia of the optic nerve and corpus callosum, we designed a targeted next-generation sequencing panel for brain morphogenesis defects. We identified a novel hemizygous deletion, c.6355 + 4_6355 + 5delAG, in intron 38 of the FLNA gene that the patient had inherited from his mother. cDNA studies showed that this variant results in the production of 3 aberrant FLNA transcripts, the most abundant of which results in retention of intron 38 of FLNA. CONCLUSIONS: We report for the first time a case of early-onset SOD associated with a mutation in the FLNA gene. This finding broadens the spectrum of genetic causes of this rare disorder and expands the phenotypic spectrum of the FLNA gene.


Assuntos
Filaminas/genética , Estudos de Associação Genética , Mutação , Displasia Septo-Óptica/genética , Sequência de Bases , Encéfalo , Corpo Caloso/diagnóstico por imagem , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Nervo Óptico , RNA Mensageiro/metabolismo , Displasia Septo-Óptica/diagnóstico por imagem , Displasia Septo-Óptica/fisiopatologia , Septo Pelúcido
19.
Biomed Res Int ; 2019: 9458039, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31218228

RESUMO

As the largest subcortical commissural fiber, the corpus callosum plays an important role in cerebral functions and has abundant blood supply from bilateral circulation. Isolated corpus callosum infarction (ICCI) may have specific characteristics. The aim of the study is to evaluate the clinical features, etiology, and 6-month prognosis of ICCI. Consecutive patients with acute ICCI treated at the China-Japan Friendship Hospital between June 2012 and June 2016 were retrospectively assessed for clinical and imaging findings. These cases were compared with patients suffering from other isolated supratentorial subcortical infarctions, matched for age, sex, and infarction size (n=60; control group). ICCI etiology and 6-month prognosis were further analyzed. ICCI cases accounted for 2.9% (33/1125) of all acute ischemic strokes and 30 patients were included. Most patients (n=28, 93.3%) presented nonspecific clinical symptoms, and only two (6.7%) with diffuse infarction developed callosal disconnection syndrome (CDS). The splenium was the most frequent site (37.5%). Large artery atherosclerosis (LAA) (n=16, 53.3%) was the most common etiology. Only four (13.3%) patients developed transient ischemic attacks (n=1, 3.3%) or cerebral infarction (n=3, 10%) during the 6-month follow-up. The frequency of good prognosis (modified Rankin score of 1-2 and without cardiovascular events) was higher in patients with ICCI compared with controls (P=0.024). Poor prognosis was associated with multiple cerebrovascular stenosis, diffuse/large infarction, and diabetes (all P<0.05). ICCI is a rare stroke type, frequently involving the splenium; its common etiology is likely LAA. Most patients show nonspecific symptoms, with only a few developing CDS. ICCI generally shows favorable short-term outcome.


Assuntos
Infarto Cerebral , Corpo Caloso , Adulto , Idoso , Idoso de 80 Anos ou mais , Infarto Cerebral/diagnóstico , Infarto Cerebral/diagnóstico por imagem , Infarto Cerebral/epidemiologia , Infarto Cerebral/fisiopatologia , China/epidemiologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/fisiopatologia , Feminino , Seguimentos , Humanos , Ataque Isquêmico Transitório/diagnóstico , Ataque Isquêmico Transitório/diagnóstico por imagem , Ataque Isquêmico Transitório/epidemiologia , Ataque Isquêmico Transitório/fisiopatologia , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia
20.
Eur J Med Genet ; 62(8): 103691, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31176769

RESUMO

Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only 5 of 22 previously reported patients show structural brain abnormalities. We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Agenesia do Corpo Caloso/genética , Coloboma/genética , Paralisia Facial/genética , Deficiência Intelectual/genética , Proteínas Nucleares/genética , Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/fisiopatologia , Animais , Pré-Escolar , Cromatina/genética , Códon sem Sentido/genética , Coloboma/diagnóstico por imagem , Coloboma/fisiopatologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Nervo Facial/patologia , Paralisia Facial/diagnóstico por imagem , Paralisia Facial/fisiopatologia , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Mutação
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