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BACKGROUND: Congenital absence of the internal carotid artery (ICA) is a highly infrequent congenital incidence and occurs in less than 0.01% of the population; bilateral absence is exceedingly rare, diagnosed below 10% of the unilateral absence of the ICA. Sickle cell disease (SCD) is a serious disorder and carries a high risk of stroke. CASE PRESENTATION: We present a five-year-old child with SCD who experienced an ischemic stroke episode with epileptic seizures. Neuroimaging revealed the agenesis of both ICAs. The frequency, embryology, and collateral pathway of the vascular anomaly as the clinical presentation, of this rare hematologic disease, are discussed. CONCLUSIONS: Sickle cell disease (SCD) carries a high risk of stroke. Congenital absence of ICA occurs in less than 0.01% of the population; bilateral absence is diagnosed below 10% of the unilateral absence of the ICA.
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Anemia Falciforme , Acidente Vascular Cerebral , Anemia Falciforme/complicações , Artéria Carótida Interna/diagnóstico por imagem , Criança , Pré-Escolar , Humanos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
Neurocutaneous melanosis (NCM) is a rare, sporadic, congenital neuroectodermal dysplasia. Large congenital melanocytic nevi (CMN) can evolve in a certain percentage of patients to NCM. Meningeal deposits are benign, but can be prone to malignant transformation in some cases. We describe the case of an infant with asymptomatic NCM, and typical magnetic resonance imaging (MRI) findings. The diagnosis was established shortly after delivery, and the patient was followed for 60 months. At that time, the girl did not have any neurologic symptoms; she reached normal developmental milestones and did not show mental retardation and did not develop malignant melanoma; further follow-up will be needed, although there are no reliable guidelines as to the time range of follow up of asymptomatic NCM in the literature. We report the typical MRI signal abnormalities of the brain, and present a review of the literature regarding this rare and mysterious congenital disorder.
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OBJECTIVE: Patients with intraventricular neurocysticercosis (IVNCC) may require cerebrospinal fluid diversion surgery for late-onset hydrocephalus in the postsurgical period. Controversy exists regarding cysticidal treatment. Our main objective was to compare surgically treated cases of IVNCC that received postoperative anthelmintics with those that did not regard the incidence and treatment of late-onset hydrocephalus. METHODS: We searched the Medline database and extracted the following data: age, gender, stage of development of cysticercosis, type of operation, frequency of delayed hydrocephalus, cerebrospinal fluid diversion surgery, outcome, and follow-up. RESULTS: We analyzed 130 articles on intraventricular cysticercosis and identified 117 cases of isolated IVNCC and 314 patients in the case-control series who met inclusion criteria. There was no significant difference in postoperative delayed hydrocephalus between isolated IVNCC and case-control study groups. Children under the age of 16 received anthelmintic drugs more frequently during the postoperative period. Statistical relevance was observed in all patient groups regarding the application of steroids in favor of cysticidal therapy Endoscopy was a better option than craniotomy for cases of isolated IVNCC and case-control studies. Other variables were not relevant. CONCLUSIONS: Patients who received antihelminths did not show a statistically significant reduction in delayed hydrocephalus compared to individuals who did not receive after surgical resection of the parasite. Corticosteroid therapy prevailed in people who have been treated with anthelmintics. Children under the age of 16 were administered anthelmintic drugs more frequently during the postoperative period. Endoscopy was the preferred method for all groups, but some patients with cysts in the fourth ventricle required a craniotomy.
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Anti-Helmínticos , Hidrocefalia , Neurocisticercose , Criança , Humanos , Neurocisticercose/tratamento farmacológico , Neurocisticercose/cirurgia , Estudos de Casos e Controles , Quarto Ventrículo/cirurgia , Anti-Helmínticos/uso terapêutico , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Hidrocefalia/tratamento farmacológicoRESUMO
Aicardi-Goutières syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. The dominant clinical symptom is the subacute onset of severe encephalopathy, which manifests as irritability, loss of ability, slowing of head growth, and poor nutrition. Arteriopathy in AGS is an uncommon manifestation usually associated with mutations in the SAMHD1 gene. We present a rare case of a 3-year-old male due to failure to thrive, global developmental delay, microcephaly, poor vision, upper and lower limbs spasticity, and gastroesophageal reflux disease (GERD), who harbored early stenotic lesions of the large and medium intracranial arteries with ischemic sequelae in the early postnatal life. Performed genetic testing confirmed homozygous gene mutation, SAMHD1 associated with AGS type 5. By reviewing the available literature, we were able to find only one patient whose arterial lesions were diagnosed after 6 months.
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Doenças Autoimunes do Sistema Nervoso , Malformações do Sistema Nervoso , Masculino , Humanos , Pré-Escolar , Proteína 1 com Domínio SAM e Domínio HD/genética , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/patologia , Mutação/genéticaRESUMO
Background Neurocysticercosis is significant due to its high prevalence and considerable morbidity and mortality. The intraventricular form of NCC is less common than parenchymal, may have a rapidly progressive course and it requires a corresponding therapeutic response. Despite the extensive literature dealing with NCC and intraventricular cystic lesions, no systematic reviews have addressed similar work related to the clinical course and treatment of the infestation. Our main objective was to analyze the clinical type of the disease and the management for each ventricle separately on the basis of case reports or series of patients with individual data on the course of the disease and its treatment. As a control group, we used data on signs&symptoms and treatment of patients from published series on intraventricular neurocysticercosis. Method We performed a search in the Medline database. Google Scholar was also randomly searched. We extracted the following data from the eligible case/series: age and gender, symptoms, clinical signs, diagnostic examinations and findings, localization, treatment, follow-up period, outcome, and publication year. All data are presented in the form of absolute and relative numbers. The frequency of signs and symptoms, treatment and outcomes of the observed groups were checked by the Chi-square test and Fisher's test. The hypothesis was tested with p <0.05 as statistical significance. Results We selected 160 cases of intraventricular neurocysticercosis (IVNCC) and divided them according to their localization into five categories. Hydrocephalus was recognized in 134 cases (83.4%). Patients with isolated IVNCCare are younger (P=.0264) and have a higher percentage of vesicular cysts (p <.00001). In mixed IVNCC, degenerative and multiple confluent cysts predominate (p = 0.00068). Individuals carrying fourth + third ventricular cysts (potentially obstructive form) are younger than individuals with lateral ventricles (potentially less obstructive forme) (p = .0083). The majority of patients had individual symptoms for a longer period before the acute onset of the disease (p <.00001). The predominant clinical manifestation is headache (88.7%); the proportion within the groups ranged from 100% to 75% without statistical significance (p.074214). The same was true for patients with symptoms of vomiting or nausea, who had a lower and roughly balanced percentage of 67.7% to 44.4% (p.34702). Altered level of consciousness (ranging from 21% to 60%) and focal neurological deficit (from 51.2% to 15%) are the only clinical category with statistical significance (p <0.001 and p.023948 ). Other signs and symptoms were less frequent and statistically irrelevant. Surgical resection of the parasite was the predominant type of treatment, varying from 55.5% to 87.5% (p- .02395); endoscopy (48.2%) and craniotomy (24.4%), each individually, showed statistical significance (.00001 and .000073, respectively). The difference was also relevant among patients who had CSF diversion performance with/without medical treatment (p-.002312. Postoperatively, 31.8% of patients received anthelmintics with/without anti-inflammatory or other drugs. Endoscopy, open surgery, and postoperative antiparasitic therapy showed statistical differences (p < 0.001). Favorable outcomes or regression of symptoms were recorded in 83.7%, mortality 7.5%. In the case series, the clinical signs&symptoms were as follows: headache-64%, nausea and vomiting 48.4%, focal neurological deficit 33.6% and altered level of consciousness 25%. Open surgery was the predominant form of intervention (craniotomy (57.6% or endoscopy 31.8%); with statistical significance between them (p< .00001). Conclusion. Ventricular neurocysticercosis is an alarming clinical condition. Hydrocephalus is the dominant diagnostic sign. Isolated IVNCC patients were recognized at a younger age than Mix.IVNCC individuals; poeple with cysts in the fourth and third ventricles (as a potentially more occlusive type of disease), presented their symptoms at a younger age than individuals with LVNCC. The majority of patients had long-term signs and symptoms before the acute onset of the disease. Headache, nausea& vomiting are the most common symptoms of infestation accompanied by altered sensorium and focal neurological deficits. Surgery is the best treatment option. A sudden increase in ICP due to cerebrospinal fluid obstruction with a successive cerebral hernia is the leading cause of fatal outcomes.
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The aim of this study is to determine whether the use of tranexamic acid (TXA) in patients with hip fracture reduces intraoperative and postoperative blood loss, and on the other hand, whether it increases thromboembolic risk. The study was performed on patients with hip fracture for a period of one year. Patients were divided into two groups (1:1): the first group receiving TXA and the second group receiving placebo. The amount of blood aspiration during the surgery was measured as well as drainage in the postoperative period of 24 h. The occurrence of deep vein thrombosis (DVT) was monitored before and after the surgery by ultrasound of the lower extremities. The amount of total blood loss was two times lower in patients who received TXA (291.8 ± 65.5 mL of blood vs 634.7 ± 150.5 mL of blood). Among the patients who developed DVT, one patient was from the group that did not receive TXA, and two patients were from the group that received TXA. The use of TXA in patients with hip fracture significantly reduces intraoperative and postoperative blood loss, without a significant thromboembolic risk.
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BACKGROUND: Combining vedolizumab with a rapid-onset drug such as cyclosporine is a novel combination treatment for severe steroid-resistant ulcerative colitis (UC). This prospective study describes the efficacy and safety of cyclosporine in conjunction with vedolizumab in patients with severe, steroid-resistant UC with 1 year of follow-up. METHODS: Seventeen steroid-resistant UC patients were treated with cyclosporine in combination with vedolizumab, with a follow up of 52 weeks. Clinical and endoscopic response, remission rates, and colectomy-free survival were the primary endpoints. Secondary endpoints included biochemical response and remission with C-reactive protein, erythrocyte sedimentation rate, and fecal calprotectin. RESULTS: Fifteen (88%) of 17 patients initially responded to cyclosporine and were started on vedolizumab. By week 10, 11 (73%) of 15 patients had achieved endoscopic remission with a Mayo score of ≤1. At week 26, 14 (93%) of 15 of the patients were in clinical remission and 11 (73%) were in endoscopic remission. At week 52 of follow-up, 10 (71%) of 14 of these patients continued to be in endoscopic remission and 11 (79%) of 14 were in clinical remission. Among the 10 patients in endoscopic remission, 8 (80%) reached histological remission. Colectomy-free survival rate was 82% (n = 14 of 17) at 1 year and mean C-reactive protein, erythrocyte sedimentation rate, and fecal calprotectin levels were 3.2 mg/L, 16.1 mm/h, and 168.3 µg/g, respectively. No serious adverse events were reported. CONCLUSIONS: Bridging cyclosporine to vedolizumab in severe, steroid-refractory UC patients is effective and safe at inducing and maintaining clinical, endoscopic, and biochemical response and remission up to 52 weeks of follow-up. Larger prospective studies are warranted.
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Colite Ulcerativa , Anticorpos Monoclonais Humanizados , Proteína C-Reativa/metabolismo , Colite Ulcerativa/patologia , Ciclosporina/uso terapêutico , Seguimentos , Fármacos Gastrointestinais/uso terapêutico , Humanos , Quimioterapia de Indução , Complexo Antígeno L1 Leucocitário/metabolismo , Estudos Prospectivos , Indução de Remissão , Esteroides/uso terapêutico , Resultado do TratamentoRESUMO
AIMS: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. BACKGROUND: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain. OBJECTIVE: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. METHODS: We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information. RESULTS: Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care. CONCLUSION: Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.
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Encefalocele , Osso Occipital/anormalidades , Encefalocele/diagnóstico por imagem , Encefalocele/epidemiologia , Encefalocele/etiologia , Encefalocele/cirurgia , Humanos , Incidência , Neuroimagem/métodos , Procedimentos Neurocirúrgicos/métodos , Osso Occipital/diagnóstico por imagem , PrognósticoRESUMO
BACKGROUND: Women with inflammatory bowel diseases (IBD) often receive biologicals during pregnancy to maintain disease remission. Data on outcome of vedolizumab-exposed pregnancies (VDZE) are sparse. AIMS: To assess pregnancy and child outcomes of VDZE pregnancies and to compare these results to anti-TNF exposed (TNFE) or both immunomodulatory and biologic unexposed (CON IBD) pregnancies. METHODS: A retrospective multicentre case-control observational study was performed. RESULTS: VDZE group included 79 pregnancies in 73 IBD women. The TNFE and CON IBD group included 186 pregnancies (162 live births) in 164 IBD women and 184 pregnancies (163 live births) in 155 IBD women, respectively. At conception, cases more often had active disease ([VDZE: 36% vs TNFE: 17%, P = .002] and [VDZE: 36% vs CON IBD: 24%, P = .063]). No significant difference in miscarriage rates were found between groups (VDZE and TNFE: 16% vs 13%, P = .567; VDZE and CON IBD: 16% vs 10%, P = .216). In live-born infants, median gestational age and birthweight were similar between groups. Median Apgar score at birth was numerically equal. Prematurity was similar in the VDZE group compared to the control groups, even when correcting for disease activity during pregnancy. The frequency of congenital anomalies was comparable between groups as were the percentages of breastfed babies. During the first year of life, no malignancies were reported and infants' infection risk did not significantly differ between groups. CONCLUSION: No new safety signal was detected in VDZE pregnancies although larger, prospective studies are required for confirmation.
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Anticorpos Monoclonais Humanizados/uso terapêutico , Fatores Imunológicos/uso terapêutico , Doenças Inflamatórias Intestinais/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Resultado da Gravidez/epidemiologia , Adulto , Produtos Biológicos/uso terapêutico , Aleitamento Materno/estatística & dados numéricos , Estudos de Casos e Controles , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Doenças Inflamatórias Intestinais/epidemiologia , Nascido Vivo/epidemiologia , Masculino , Gravidez , Complicações na Gravidez/epidemiologia , Cuidado Pré-Natal/métodos , Estudos Retrospectivos , Padrão de Cuidado , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto JovemRESUMO
OBJECTS: Primitive carotid-vertebral and carotid-basilar anastomoses are formed early during human embryogenesis at approximately 24 days. From cephalic to caudal direction, these anastomoses are cranial extensions of the primitive internal carotid, trigeminal, otic, hypoglossal and proatlantal intersegmental arteries. MATERIALS AND METHODS: Normal and/or abnormal morphofunctional aspects of prenatal and postnatal forms of the proatlantal intersegmental artery, from the 24th day of gestation to postnatal eight decades, are described according to personal and literature data. Many (ab) normal carotid-vertebral anastomoses are also marked in differential diagnosis of the proatlantal intersegmental artery. CONCLUSIONS: The proatlantal intersegmental artery maintains the posterior circulation until the vertebral arteries are fully developed between the seventh and eighth gestational weeks. When this artery fails to obliterate, it becomes persistent one. The proatlantal intersegmental artery, most commonly, is an incidental finding or it may be of clinical significance in some patients.
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Artérias/anormalidades , Artérias/embriologia , Vértebras Cervicais/irrigação sanguínea , Artérias/patologia , Artérias Carótidas/anormalidades , Artérias Carótidas/embriologia , Artérias Cerebrais/anormalidades , Artérias Cerebrais/embriologia , Vértebras Cervicais/patologia , Humanos , Medula Espinal/irrigação sanguínea , Artéria Vertebral/anormalidades , Artéria Vertebral/embriologia , Artéria Vertebral/patologiaAssuntos
Toxidermias/etiologia , Doenças Inflamatórias Intestinais/tratamento farmacológico , Corticosteroides/efeitos adversos , Anti-Inflamatórios não Esteroides/efeitos adversos , Azatioprina/efeitos adversos , Ciclosporina/efeitos adversos , Toxidermias/terapia , Humanos , Imunossupressores/efeitos adversos , Mercaptopurina/efeitos adversos , Mesalamina/efeitos adversos , Metotrexato/efeitos adversos , Fator de Necrose Tumoral alfa/antagonistas & inibidoresRESUMO
The hypoglossal artery is rarely described member of carotid-basilar family anastomoses. Together with a caudal end of the primitive internal artery, trigeminal, otic, and proatlantal intersegmental arteries, it represents the remnant of vascular channels' unsuccessful involution which function normally stops in human embryo with 12 to 14 mm crown-rump length. The persistence of hypoglossal artery alone is usually incidental and asymptomatic finding during the routine angiography, while during autopsies or surgical operations, its presence is frequently associated with other vascular or organic abnormalities and diseases. The aim of this review is to document the hypoglossal artery developmental morphology, as well as the normal anatomical and clinical aspects and better understanding of its persistence overall significance.