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1.
Strabismus ; 27(4): 199-204, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31637944

RESUMO

Cerebral palsy, neurological abnormalities, prematurity or periventricular lesions may affect motor and sensory fusion mechanisms that favorably control eye alignment. White matter damage of immaturity (WMDI) is a form of white matter brain injury characterized by the necrosis of white matter near the lateral ventricles. In these cases, it is difficult to establish fusion after strabismus surgery and consecutive deviations may be seen more frequently especially in association with WMDI. The aim of this study is to evaluate and compare the cerebral magnetic resonance imaging (MRI) findings in operated infantile esotropia cases with and without consecutive exotropia and to relate them to the occurance of consecutive exotropia.Seventeen patients that had consecutive exotropia after bilateral medial rectus recession surgery for infantile esotropia were included in this study (group 1) and patients that were operated with the same diagnosis with a successful surgical outcome (≤10 PD of deviation) were recruited as group 2. Age, sex, consanguinity, associated systemic and neurological diseases, prematurity, visual acuity, angle of deviations at first visit, at last and follow-up visit and after surgery, cycloplegic retinoscopy, fundus and cerebral MRI findings were recorded. Demographic and clinical findings of patients in two groups and MRI findings were evaluated and compared.The mean age at the time of first examination was 8.21 ± 6.62 and 7.45 ± 4.94 months in infantile esotropia patients with (group 1) and without consecutive exotropia (group 2), respectively. The mean cycloplegic refractive errors (+1.92 ± 1.57 D vs. +2.30 ± 1.10 D), the mean preoperative angle of deviation (46.33 ± 18.8 PD vs. 34.8 ± 12.5 PD), sex, percentage of consanguinity, percentage of prematurity, presence of latent nystagmus, dissociated vertical deviation and amblyopia and fundus findings were similar in both groups. Patients with consecutive exotropia had a mean deviation angle of 37.5 ± 9.48 PD postoperatively. Cerebral MRI findings were consistent with WMDI (three patients), myelinization delay (one patient), septooptic dysplasia (one patient) and periventricular cysts (one patient) in group 1. Cerebellar hemispheres and vermis hypoplasia (one patient), myelinization delay (one patient), cerebellar atrophy (one patient) were the MRI findings of patients in group 2.White matter damage of immaturity was only present in the consecutive exotropia group. This finding may suggest that WMDI can be a risk factor for consecutive deviation in infantile esotropia patients.


Assuntos
Esotropia/diagnóstico , Exotropia/diagnóstico , Leucoencefalopatias/diagnóstico , Imagem por Ressonância Magnética , Substância Branca/diagnóstico por imagem , Pré-Escolar , Esotropia/cirurgia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estudos Retrospectivos
2.
Invest Ophthalmol Vis Sci ; 60(12): 3803-3812, 2019 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-31504081

RESUMO

Purpose: White matter (WM) degeneration of the visual pathways in primary open-angle glaucoma (POAG) is well documented, but its exact pathophysiology remains unclear. To date, glaucomatous WM degeneration has been exclusively studied using diffusion tensor imaging (DTI) only. However, DTI measures lack direct biological interpretation, and the approach itself suffers from multiple technical limitations. Fixel-based analysis (FBA) is a novel framework for studying WM degeneration, overcoming DTI's technical limitations and providing biologically meaningful metrics. FBA measures fiber density (FD), representing early microstructural changes, and fiber-bundle cross section (FC), representing late macrostructural changes. In this study, we use FBA to study glaucomatous degeneration of the pregeniculate optic tracts (OTs) and postgeniculate optic radiation (ORs) in POAG. Methods: This was a cross-sectional case-control study with 12 POAG patients and 16 controls. Multi-shell diffusion-weighted images were acquired. FBA was used to produce a population template, and probabilistic tractography was used to track the OTs and ORs in template space. Finally, FD and FC of the tracts of interest were compared between the two groups. Results: Compared with the controls, the OTs of the patients exhibited a significant (familywise error corrected P < 0.05) decrease in FD and FC, whereas their ORs exhibited a significant decrease in FD but not in FC. Conclusions: FBA provides sensitive measures to assess WM changes in glaucoma. Our findings suggest that the OTs of glaucoma patients exhibit signs of more advanced WM degeneration compared with the ORs. This potentially implicates anterograde trans-synaptic propagation as the primary cause of glaucomatous spread along the visual pathways.


Assuntos
Glaucoma de Ângulo Aberto/diagnóstico , Leucoencefalopatias/diagnóstico , Vias Visuais/patologia , Substância Branca/patologia , Idoso , Estudos de Casos e Controles , Estudos Transversais , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Células Ganglionares da Retina/patologia , Vias Visuais/diagnóstico por imagem , Substância Branca/diagnóstico por imagem
3.
Eur J Epidemiol ; 34(10): 957-965, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31399938

RESUMO

Most studies of white matter hyperintensity volume (WMHV) in stroke patients lack reliable information on antecedent exposure to vascular risk factors. By leveraging prospective cohort data, we explored associations between lifestyle and health factors assessed 1 year prior to stroke and WMHV in individuals who experienced an ischemic stroke. This analysis was nested within two large prospective studies of initially healthy individuals. Information on lifestyle factors and health conditions was collected prior to the stroke event through annual or biannual questionnaires. For individuals who experienced their first confirmed ischemic stroke and had available magnetic resonance imaging, we measured WMHV using a validated semiautomated method. Linear regression was used to explore associations between lifestyle factors and health conditions and log-transformed WMHV. We measured WMHV in 345 participants with a first ischemic stroke event (mean age = 74.4 years; 24.9% male). After multivariate adjustment, history of diabetes was associated with decreased WMHV (p value = 0.06) while history of transient ischemic attack (p value = 0.09) and hypertension (p value = 0.07) were associated with increased WMHV. Most lifestyle factors and health conditions measured 1 year prior to stroke were not associated with WMHV measured at the time of ischemic stroke. Future studies could examine whether long term exposure to these factors impacts diffuse microvascular ischemic brain injury among stroke patients.


Assuntos
Nível de Saúde , Leucoencefalopatias/diagnóstico , Estilo de Vida , Acidente Vascular Cerebral/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Idoso , Feminino , Humanos , Leucoencefalopatias/epidemiologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia , Substância Branca/patologia
5.
Medicine (Baltimore) ; 98(22): e15802, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31145310

RESUMO

RATIONALE: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system, and it usually has autosomal dominant inheritance. Its pathogenesis and causes are complex, and it has obvious clinical and genetic heterogeneities; also, it is classed as a neurodegenerative disease. PATIENT CONCERNS: In preliminary clinical work, we identified a family with rapid progressive dementia. DIAGNOSIS: Within this family, all patients had a CSF1R gene c.2696delA mutation (a deletion mutation), and head magnetic resonance imaging showed extensive white matter lesions. We diagnosed these patients with HDLS. INTERVENTIONS: The proband was given hormonal treatments and immunoglobulin therapy, and his dementia symptoms have been relieved to a certain extent. OUTCOMES: After treatment, the symptoms of dementia were still progressively aggravated. However, the mutation site has not previously been reported. LESSONS: This newly discovered mutation site may provide a new basis for the genetic diagnosis of HDLS disease in clinical work.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala/métodos , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos/genética , Adulto , Humanos , Masculino , Mutação , Linhagem
6.
J Clin Neurosci ; 64: 42-44, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30910547

RESUMO

Primary Angiitis of the Central Nervous System (PACNS) is a rare form of idiopathic CNS vasculitis. Neuroimaging is often abnormal and characterized by multifocal brain lesions, but brain biopsy definitely confirms the diagnosis. We report the rare case of a 45-year-old female presenting with symptoms of intracranial hypertension and leukodystrophy-like neuroimaging findings. A comprehensive diagnostic work-up led to the unexpected diagnosis of a definite PACNS which was successfully treated by immunosuppressive treatment. Although rarely, PACNS can present as diffuse leukoencephalopathy on neuroimaging, and mimic even an inherited leukodystrophy. Therefore, in adults with leukodystrophy-like neuroimaging findings, careful examination of clinical and non-clinical features is mandatory to avoid missing the diagnosis of a treatable acquired disease.


Assuntos
Vasculite do Sistema Nervoso Central/diagnóstico , Biópsia , Feminino , Humanos , Imunossupressores/uso terapêutico , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/patologia , Pessoa de Meia-Idade , Vasculite do Sistema Nervoso Central/tratamento farmacológico
8.
Mult Scler Relat Disord ; 31: 22-31, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30901701

RESUMO

BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant white matter disease, typically characterized by juvenile cognitive decline and frontoparietal white matter lesions. A portion of HDLS patients exhibit preferential motor dysfunctions as their initial symptoms, mimicking multiple sclerosis (MS). However, there is no study comparing this phenotype of HDLS and primary progressive multiple sclerosis (PPMS), which greatly resemble each other. This is the first preliminary study to clarify the clinical and neuroimaging features of motor-predominant HDLS, and compare it with PPMS, using cases whose colony stimulating factor 1 receptor (CSF1R) were sequenced. METHODS: Clinical and radiological data from Japanese patients at the Department of Neurology, Kyushu University Hospital, Fukuoka, Japan, were evaluated retrospectively and cross-sectionally. Twenty-nine brain and 18 spinal cord magnetic resonance imaging (MRI) scans from four motor-predominant HDLS patients with CSF1R mutations and 15 PPMS patients without CSF1R mutations, were evaluated using an HDLS MRI scoring system. RESULTS: Two patients with HDLS were initially diagnosed with MS and received immunotherapy. Clinically, motor-predominant HDLS and PPMS patients resembled each other in onset age and disability. However, motor-predominant HDLS patients had a significantly higher frequency of frontal release signs, lower positivity rates of oligoclonal IgG bands (OCB), and lower IgG index values. Total HDLS MRI scores, total white matter lesions (WMLs), and brain atrophy were similar between the diseases. However, motor-predominant HDLS patients had more marked atrophy of the corpus callosum (CC) body, more WMLs in the deep and subcortical regions of the frontoparietal lobes, fewer WMLs in the occipitotemporal periventricular regions, and more restricted diffusivity lesions on MRI than PPMS patients. There was a stronger association between disease duration and CC index in HDLS, suggesting more rapid progression compared with PPMS. CONCLUSIONS: Motor-predominant HDLS has characteristic frequent frontal release signs, normal findings for OCB and the IgG index, severe CC body atrophy, abundant deep and subcortical WMLs in the frontoparietal lobes, subtle occipitotemporal lobe periventricular WMLs, and more restricted diffusivity lesions on MRI. Although the present study was limited by the small number of HDLS cases, we propose that immunotherapy should be avoided in such cases.


Assuntos
Encéfalo/patologia , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/patologia , Esclerose Múltipla Crônica Progressiva/diagnóstico , Esclerose Múltipla Crônica Progressiva/patologia , Adulto , Atrofia , Encéfalo/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Transversais , Feminino , Humanos , Estudos Retrospectivos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
10.
J Stroke Cerebrovasc Dis ; 28(5): 1178-1184, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30660484

RESUMO

OBJECTIVES: In this research we wanted to highlight the importance of defining Borderzone infarctions (BZI) as a separate subtype in stroke classifications. We thus studied cases of isolated BZI, small vessel disease (SVD), and large vessel disease (LVD), to identify their points of similarities and difference in a sample of Egyptian patients. METHODS: This is a cross-sectional (observational) study. Consecutive 637 acute ischemic stroke patients were recruited over a 2 year period, from 2 stroke units of Ain Shams University hospitals in Egypt. Medical history and laboratory investigations were done to identify risk factors. National Institute of Health Stroke Scale (NIHSS) was performed on admission, and modified Rankin scale (mRS) on admission, and after 3 months. MRI brain was done to identify stroke subtype; MRA and carotid duplex were used to define vascular status. RESULTS: Among the studied group of patients, 72 (11.3%) had BZI, 145 (22.8%) had SVD, 165 (26%) had LVD, and 255 were excluded as they had either undetermined, or mixed etiology. BZI showed significantly older age, early confluent lesions, more disease severity by NIHSS, and worst outcome by mRS (P < 0.05). SVD had more microbleeds than BZI and LVD. LVD showed lower prevalence of hypertension and lower high-density lipoprotein levels. CONCLUSIONS: Isolated BZI, SVD, and LVD infarctions have characteristic risk factors and clinical patterns. Further studies are needed to identify if they are different from cases with mixed pathology. This could have an impact on the selection of primary and secondary preventive measures appropriate to each type.


Assuntos
Infarto Encefálico/diagnóstico , Doenças de Pequenos Vasos Cerebrais/diagnóstico , Leucoencefalopatias/diagnóstico , Idoso , Infarto Encefálico/epidemiologia , Infarto Encefálico/fisiopatologia , Infarto Encefálico/terapia , Angiografia Cerebral/métodos , Doenças de Pequenos Vasos Cerebrais/epidemiologia , Doenças de Pequenos Vasos Cerebrais/fisiopatologia , Doenças de Pequenos Vasos Cerebrais/terapia , Estudos Transversais , Avaliação da Deficiência , Egito/epidemiologia , Feminino , Humanos , Leucoencefalopatias/epidemiologia , Leucoencefalopatias/fisiopatologia , Leucoencefalopatias/terapia , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prevalência , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia Doppler Dupla
12.
JAMA Neurol ; 76(4): 501, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30688973
13.
J Clin Neurosci ; 61: 302-304, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30385167

RESUMO

Diseases due to mutations of polymerase γ (POLG) usually present with progressive external ophthalmoplegia. However, a few studies have been reported on POLG1 mutations with the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype. All cases with POLG1 mutations mimicking MNGIE have never shown leukoencephalopathy on brain magnetic resonance imaging (MRI) or demyelinating polyneuropathy. We present a 26-year-old male with gait disturbance, recurrent bowel obstruction, peripheral neuropathy, ophthalmoplegia or ptosis, which represented MNGIE phenotype. Though he displayed demyelinating peripheral neuropathy or leukoencephalopathy on brain MRI, genetic analysis revealed heterozygous mutation in POLG1 gene. We report for the first time two newly characteristics in our patient with heterozygous POLG1 mutations with the MNGIE-like phenotype: leukoencephalopathy and demyelinating polyneuropathy.


Assuntos
Polimerase do DNA Mitocondrial/genética , Pseudo-Obstrução Intestinal/diagnóstico , Pseudo-Obstrução Intestinal/genética , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/genética , Adulto , Heterozigoto , Humanos , Imagem por Ressonância Magnética , Masculino , Distrofia Muscular Oculofaríngea , Mutação , Fenótipo
14.
Neurogenetics ; 20(1): 1-8, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30535813

RESUMO

Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain. Whole exome sequencing revealed heterozygous C1R mutations c.926G>T (p.Cys309Phe, Family A) and c.149_150TC>AT (p.Val50Asp, Family B). All adult individuals (n = 7; age range 31 to 68 years) investigated by MRI had brain white matter abnormalities. The MRI of one investigated child aged 8 years was normal. The MRI pattern was suggestive of an underlying small vessel disease that is progressive with age. As observed in other leukoencephalopathies related to microangiopathies, the extent of the white matter changes was disproportionate to the neurologic features. Medical history revealed recurrent headaches or depression in some cases. Neurological examination was unremarkable in all individuals but one had mild cognitive decline and ataxia and experienced a seizure. The observation that periodontal Ehlers-Danlos syndrome caused by missense mutations in C1R is consistently associated with a leukoencephalopathy opens a new pathogenic link between the classical complement pathway, connective tissue, brain small vessels, and brain white matter abnormalities.


Assuntos
Encéfalo/patologia , Complemento C1r/genética , Síndrome de Ehlers-Danlos/genética , Leucoencefalopatias/genética , Adulto , Idoso , Ataxia Cerebelar/complicações , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/genética , Criança , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Feminino , Humanos , Leucoencefalopatias/complicações , Leucoencefalopatias/diagnóstico , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem
15.
Neurocase ; 24(5-6): 238-241, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30583716

RESUMO

Behçet's disease is a chronic inflammatory disorder manifesting as a vasculitis that affects arteries and veins of any size. Up to 44% of cases may also present with neurological symptoms, thus defining Neuro-Behçet's disease. We describe a case of Neuro-Behçet's disease characterized by progressive behavioral and cognitive deterioration prevailing over other neurological symptoms, without evident systemic involvement.


Assuntos
Síndrome de Behçet/complicações , Transtornos Cognitivos/etiologia , Leucoencefalopatias/etiologia , Vasculite/etiologia , Adulto , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/patologia , Síndrome de Behçet/fisiopatologia , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/patologia , Transtornos Cognitivos/fisiopatologia , Humanos , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/patologia , Leucoencefalopatias/fisiopatologia , Imagem por Ressonância Magnética , Vasculite/diagnóstico , Vasculite/patologia , Vasculite/fisiopatologia
16.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 36(4): 515-518, out.-dez. 2018.
Artigo em Português | LILACS | ID: biblio-977077

RESUMO

RESUMO Objetivo: Descrever uma criança diagnosticada com leucoencefalopatia com substância branca evanescente (LSBE), uma doença genética rara que possui padrão de herança autossômico recessivo. Descrição do caso: Criança do sexo masculino, com 5 meses de idade, que mostrava recusa da amamentação e sonolência, começou a apresentar quadro de desidratação, com boca seca, aumento da temperatura corporal e adipsia. Com o passar dos dias, os sintomas agravaram-se. O lactente apresentou-se muito sonolento e foi transferido para a unidade de tratamento intensivo (UTI), onde permaneceu por uma semana. Nesse período, foi identificada, na ressonância magnética de crânio, uma alteração de sinal com predomínio hiperatenuado T2, comprometendo particularmente a substância branca, de aspecto difuso e simétrico. O lactente apresentou crises convulsivas desde então. Aos 11 meses foi diagnosticado com tonsilite, demonstrando quadros recorrentes de picos febris e sonolência excessiva. Na evolução do quadro, o lactente entrou em estado comatoso progredindo a óbito. O diagnóstico de LSBE foi confirmado em exames realizados após o óbito, e tardiamente foi identificada uma doença genética decorrente de mutações em um dos cinco genes que são responsáveis pela codificação do complexo fator de iniciação da tradução de eucariontes 2B (eIF2B), envolvido com o controle da tradução de proteínas, sendo descrita como patogênica em indivíduos com LSBE. Comentários: A LSBE é uma doença cerebral hereditária com início na infância. A doença apresenta-se de maneira crônica e progressiva, com episódios adicionais de rápida deterioração, como evidenciado no presente relato de caso.


ABSTRACT Objective: To describe the case of a child diagnosed with leukoencephalopathy with vanishing white matter (LVWM), a rare genetic disease with autosomal recessive inheritance pattern. Case description: A 5-month-old male child started to refuse breast-feeding, showing somnolence and signs of dehydration,with dry mouth, increasing body temperature and adipsy. As days went by, the symptoms got worse. The infant was very sleepy and was transferred to the intensive care unit, where he stayed for one week. At this time, a signal alteration with hyper attenuated T2 predominance was identified in the magnetic resonance imaging, compromising the white matter, which had diffuse and symmetrical aspect. At this time, the infant started to present seizures. When the infant was 11 months old, he was diagnosed with tonsillitis and presented recurrent fever peaks and extreme sleepiness. After hospital admission, the infant progressed to a comatose state and died. The diagnosis of LVWM was confirmed in examinations performed after death. As a late diagnosis, a genetic disease was identified with a mutation in one of the five genes responsible for the codification of complex eukaryotic translation initiation factor 2B (eIF2B), involved with the control of the protein translation and which is described as pathogenic in individuals with LVWM. Comments: LVWM is a hereditary brain disease that occurs primarily in children. The disease is chronic and progressive, with additional episodes of rapid deterioration, as shown in the present case report.


Assuntos
Humanos , Masculino , Lactente , Leucoencefalopatias/diagnóstico
17.
PLoS One ; 13(10): e0203774, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30312297

RESUMO

HYPOTHESIS: We hypothesized that P wave terminal Force in the V1 lead (PTFV1) would be associated with leukoaraiosis and subclinical infarcts, especially cortical infarcts, in a population-based, multi-ethnic cohort. METHODS: PTFV1 was collected manually from baseline electrocardiograms of clinically stroke-free Northern Manhattan Study participants. Investigators read brain MRIs for superficial infarcts, deep infarcts, and white matter hyperintensity volume (WMHV). WMHV was adjusted for head size and log transformed, achieving a normal distribution. Logistic regression models investigated the association of PTFV1 with cortical and with all subclinical infarcts. Linear regression models examined logWMHV. Models were adjusted for demographics and risk factors. RESULTS: Among 1174 participants with PTFV1 measurements, the mean age at MRI was 70 ± 9 years. Participants were 14.4% white, 17.6% black, and 65.8% Hispanic. Mean PTFV1 was 3587.35 ± 2315.62 µV-ms. Of the 170 subclinical infarcts, 40 were cortical. PTFV1 ≥ 5000 µV-ms was associated with WMHV in a fully adjusted model (mean difference in logWMHV 0.15, 95% confidence interval 0.01-0.28). PTFV1 exhibited a trend toward an association with cortical infarcts (unadjusted OR per SD change logPTFV1 1.30, 95% CI 0.94-1.81), but not with all subclinical infarcts. CONCLUSION: Electrocardiographic evidence of left atrial abnormality was associated with leukoaraiosis.


Assuntos
Arritmias Cardíacas/diagnóstico , Traumatismo Cerebrovascular/diagnóstico por imagem , Átrios do Coração/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Arritmias Cardíacas/diagnóstico por imagem , Arritmias Cardíacas/fisiopatologia , Pressão Sanguínea , Sistema Nervoso Central/diagnóstico por imagem , Sistema Nervoso Central/fisiopatologia , Traumatismo Cerebrovascular/fisiopatologia , Eletrocardiografia , Feminino , Átrios do Coração/fisiopatologia , Humanos , Hipertensão/diagnóstico , Hipertensão/diagnóstico por imagem , Hipertensão/fisiopatologia , Leucoaraiose/diagnóstico , Leucoaraiose/diagnóstico por imagem , Leucoaraiose/fisiopatologia , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/fisiopatologia
18.
Turk J Pediatr ; 60(2): 216-220x, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30325133

RESUMO

Çavusoglu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arican P, Gençpinar P. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. Turk J Pediatr 2018; 60: 216-220. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene.


Assuntos
Aspartato-tRNA Ligase/deficiência , Tronco Encefálico/patologia , Ácido Láctico/sangue , Leucoencefalopatias/diagnóstico , Doenças Mitocondriais/diagnóstico , Medula Espinal/patologia , Aspartato-tRNA Ligase/genética , Tronco Encefálico/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Criança , Humanos , Leucoencefalopatias/genética , Imagem por Ressonância Magnética/métodos , Masculino , Doenças Mitocondriais/genética , Mutação , Medula Espinal/diagnóstico por imagem , Turquia , Substância Branca/patologia
20.
Int J Hematol ; 108(6): 630-636, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30182170

RESUMO

Intrathecal administration of methotrexate (IT-MTX) can lead to neurotoxicity. MTX-induced neurotoxicity occasionally manifests with a stroke-like presentation that is difficult to distinguish from genuine stroke. We retrospectively reviewed records of nine patients with leukemia or lymphoma and episodes of stroke-like presentation at our institute between 2010 and 2015 for whom magnetic resonance imaging (MRI) data were available. Coagulation test results were compared between the two diagnostic groups. Four patients were diagnosed with MTX-induced stroke-like neurotoxicity. The first neurological event occurred 10-13 days after the fourth or later IT-MTX treatment. All four patients had hemiparalysis, two exhibited disturbed consciousness and three presented with speech disorders. Fibrin/fibrinogen degradation products (FDP) and D-dimer values were within normal ranges. MRI revealed bilateral lesions with restricted diffusion in all four cases. Neurological symptoms fluctuated and resolved within 5 days, and IT-MTX was subsequently re-initiated in all four cases. One patient developed transient hemiparalysis after a subsequent IT-MTX treatment, but this did not recur thereafter. Bilateral lesions on MRI and normal coagulation are indicative of MTX-induced stroke-like neurotoxicity. Continuation of IT-MTX after these events is generally feasible, but adverse event risk should be carefully weighed against anti-tumor benefits.


Assuntos
Antimetabólitos Antineoplásicos/efeitos adversos , Metotrexato/efeitos adversos , Síndromes Neurotóxicas/diagnóstico , Síndromes Neurotóxicas/etiologia , Acidente Vascular Cerebral/diagnóstico , Antimetabólitos Antineoplásicos/uso terapêutico , Coagulação Sanguínea , Testes de Coagulação Sanguínea , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Neoplasias Hematológicas/complicações , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/tratamento farmacológico , Humanos , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/etiologia , Masculino , Metotrexato/uso terapêutico , Síndromes Neurotóxicas/sangue , Estudos Retrospectivos
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