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2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 897-900, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515785

RESUMO

OBJECTIVE: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. METHODS: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. RESULTS: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. CONCLUSION: Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Hidrocefalia/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Análise Mutacional de DNA , Feminino , Feto , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Hidrocefalia/diagnóstico , Masculino , Mutação , Linhagem , Gravidez
3.
Eur J Paediatr Neurol ; 23(4): 571-580, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31147106

RESUMO

PURPOSE: Regular measurement of ventricular size is important in children with hydrocephalus. After closure of the fontanelle this is currently addressed by repetitive cranial MRI or CT imaging, coming along with risks of anaesthesia or radiation. As the third ventricle is accessible via the temporal bone window using ultrasound, determination of its diameter might be an easy and radiation-free alternative to assess the ventricular system. An essential precondition is that changes of the third ventricle diameter (TVD) mirror changes of the whole ventricular system. This study compares changes of TVD with changes of ventricular indices before and after initial treatment of hydrocephalus and during the following evolution. METHODS: MRT/CT images from 117 children with hydrocephalus were evaluated at time of diagnosis, after initial therapy and during follow-up with functional shunts. Measurements included axial TVD and three standard linear measures of the lateral ventricles (Evans Index - EI, fronto-occipital horn ratio - FOHR Index, and Cella Media Index - CMI). Furthermore, a correlation within subjects was calculated in 8 patients over the entire available follow-up. RESULTS: Relative changes of TVD were significantly correlated to relative changes of all ventricular indices (r = 0.48, r = 0.68 and r = 0.701 for EI, FOHR and CMI, respectively, p < 0.01). The correlation within subjects was outstanding for EI (r = 0.988), FOHR (r = 0.99) and CMI (r = 0.99). CONCLUSION: TVD showed a significant correlation with all three linear indices at the time of diagnosis and during follow-up changes independently of age, aetiology and ventricular width. TVD and its changes are therefore a reliable surrogate of changes in ventricular size in pediatric hydrocephalus undergoing treatment.


Assuntos
Hidrocefalia/diagnóstico , Hidrocefalia/patologia , Terceiro Ventrículo/patologia , Adolescente , Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/patologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Imagem por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos , Terceiro Ventrículo/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos
4.
Neurología (Barc., Ed. impr.) ; 34(5): 291-299, jun. 2019. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-180845

RESUMO

Introducción: La cerebelitis aguda es una rara afección inflamatoria con curso clínico muy variable: desde proceso autolimitado benigno hasta presentación fulminante con riesgo vital por compresión de fosa posterior, hidrocefalia aguda e hipertensión endocraneal. Métodos: Revisión de los hallazgos clínicos, analíticos y radiológicos de niños diagnosticados de cerebelitis aguda en el periodo comprendido entre mayo del 2007 y noviembre del 2016. Se analizan los tratamientos empleados y la evolución clínica y radiológica. Resultados: Nueve niños cumplían criterios de cerebelitis. La cefalea, los vómitos y la somnolencia fueron los síntomas de presentación más frecuentes; la ataxia, la disartria y la dismetría fueron los signos cerebelosos más frecuentes. La resonancia magnética fue el método diagnóstico mostrando afectación cerebelosa (uni o bilateral), mientras que la tomografía computarizada fue normal o solo mostraba signos indirectos como hidrocefalia triventricular por compresión extrínseca del acueducto de Silvio. Los corticoides fueron el tratamiento más empleado, administrados en 6 de los pacientes. Un paciente requirió intervención quirúrgica por hidrocefalia triventricular. Ocho pacientes tuvieron recuperación completa, mientras que uno presenta déficits neurológicos. Conclusiones: La cerebelitis es una urgencia médico-quirúrgica. Precisa un alto índice de sospecha y la realización de resonancia magnética cerebral urgente. Es un síndrome clínico-radiológico: encefalopatía aguda o subaguda, con hipertensión endocraneal y síndrome cerebeloso junto a hiperintensidad en córtex cerebeloso (uni o bilateral) en secuencias T2 y FLAIR y posible dilatación triventricular. El tratamiento es con corticoides a dosis altas y puede precisar derivación ventricular externa y cirugía descompresiva


Introduction: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. Methods: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression. Results: Nine children met the diagnostic criteria for cerebellitis. Headache, vomiting, and drowsiness were the most frequent initial symptoms; ataxia, dysarthria, and dysmetria were the most common cerebellar signs. Cerebellitis was diagnosed with magnetic resonance imaging, which revealed cerebellar involvement (unilateral or bilateral); computerised tomography images either were normal or showed indirect signs such as triventricular hydrocephalus due to extrinsic compression of the aqueduct of Sylvius. Corticosteroids were the most commonly used treatment (6 patients). One patient required surgery due to triventricular hydrocephalus. Eight patients recovered completely, whereas the ninth displayed neurological sequelae. Conclusions: Cerebellitis is a medical and surgical emergency; diagnosis requires a high level of suspicion and an emergency brain magnetic resonance imaging study. It is a clinical-radiological syndrome characterised by acute or subacute encephalopathy with intracranial hypertension and cerebellar syndrome associated with T2-weighted and FLAIR hyperintensities in the cerebellar cortex (unilaterally or bilaterally) and possible triventricular dilatation. Treatment is based on high-dose corticosteroids and may require external ventricular drain placement and decompressive surgery


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Infecções do Sistema Nervoso Central/diagnóstico , Edema Encefálico/diagnóstico , Hidrocefalia/diagnóstico , Hipertensão Intracraniana/diagnóstico , Infecções do Sistema Nervoso Central/complicações , Cefaleia/etiologia , Ataxia/etiologia , Estudos Retrospectivos , Corticosteroides/uso terapêutico
5.
Taiwan J Obstet Gynecol ; 58(2): 251-254, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30910148

RESUMO

OBJECTIVE: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. MATERIALS AND METHODS: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs <400 Kb. RESULTS: Except for three cases of chromosomal aneuploidy, CMA revealed pathogenic copy number variations (CNVs) in 3.0% (3/101) of the fetuses; these cases demonstrated involvement in the chromosomal regions 15q11.2, 1q21.1 and Xq27.3q28. Furthermore, we detected three likely pathogenic (3.0%) and two variants of uncertain significance (2.0%) among 101 fetuses diagnosed as isolated mild ventriculomegaly on ultrasound examination. CONCLUSION: Our study suggests that CNVs could aid in the risk assessment and genetic counseling in fetuses with isolated ventriculomegaly.


Assuntos
Variações do Número de Cópias de DNA/genética , Doenças Fetais/diagnóstico , Hidrocefalia/diagnóstico , Análise em Microsséries , Diagnóstico Pré-Natal/métodos , Aneuploidia , Feminino , Doenças Fetais/genética , Idade Gestacional , Humanos , Hidrocefalia/embriologia , Hidrocefalia/genética , Masculino , Gravidez , Estudos Retrospectivos , Medição de Risco
7.
Medicine (Baltimore) ; 98(6): e14322, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30732152

RESUMO

RATIONALE: Endodermal cysts are rare benign lesions in the central nervous system. Their common symptoms include headache and neck pain caused by mass effect or inflammatory reaction. We report the case of an elderly woman with intracranial endodermal cyst who presented with nonobstructive hydrocephalus. PATIENT CONCERNS: A 78-year-old woman presented with acute deterioration of consciousness caused by acute hydrocephalus. She subsequently underwent ventriculoperitoneal shunt placement. Eighteen months after this operation, she developed numbness of extremities and gait and progressive cognitive disturbances. DIAGNOSIS: Initially, the endodermal cyst could not be recognized, but it became clinically evident in the craniocervical junction after ventriculoperitoneal shunt placement. MRI revealed multiple cystic lesions in the pontomedullary cistern. Postoperative pathology confirmed the diagnosis of endodermal cyst. INTERVENTIONS: Subtotal resection of the cystic lesion was performed. Intra-operatively, multiple cysts containing a milky white fluid were noted and the medullary surface including the median and lateral apertures of the fourth ventricle were covered by thick, cloudy arachnoid membrane. OUTCOMES: Although the numbness of extremities improved after the surgery, she remained bedridden due to deterioration in cognitive function and generalized muscle weakness. The patient developed recurrence 2 months after the surgery; however, no additional surgery was performed owing to her poor general condition. LESSONS: Endodermal cysts rarely present with nonobstructive hydrocephalus caused by recurrent meningitis. In such cases, the lesions are often invisible on initial diagnostic imaging, and complete resection of the lesions is typically difficult because of strong adhesion between the cyst walls and contiguous vital structures.


Assuntos
Neoplasias do Tronco Encefálico/complicações , Neoplasias do Tronco Encefálico/diagnóstico , Cistos do Sistema Nervoso Central/complicações , Cistos do Sistema Nervoso Central/diagnóstico , Hidrocefalia/etiologia , Idoso , Neoplasias do Tronco Encefálico/cirurgia , Cistos do Sistema Nervoso Central/cirurgia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/terapia
8.
J Matern Fetal Neonatal Med ; 32(3): 493-501, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28942698

RESUMO

OBJECTIVE: The objective of this study is to determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging findings in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound. RESULTS: One hundred and fifty newborns with microcephaly were identified during the study period. The mean ± (standard deviation - SD) of cephalic perimeter was 28.5 ± 4.2 cm (range, 25-38 cm). Transfontanellar neuroimaging patterns detected cerebral calcifications, neuronal migrational abnormalities, dysgenesis of the corpus callosum, and cerebellar atrophy in 34.9%, 31.1%, 26%, and 16.2%, respectively. Hydrocephalus was seen in 28% of overall newborns. A history of maculopapular rash was present in almost half of the mothers (46.1%). CONCLUSION: Neuroimaging patterns by means of transfontanellar ultrasound are accurate and diagnostic investigations of brain pathology in newborns affected by microcephaly and possible intrauterine ZIKV infection.


Assuntos
Fontanelas Cranianas/diagnóstico por imagem , Microcefalia/diagnóstico , Neuroimagem/métodos , Complicações Infecciosas na Gravidez , Infecção por Zika virus/complicações , Infecção por Zika virus/diagnóstico , Fontanelas Cranianas/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/virologia , Recém-Nascido , Masculino , Microcefalia/virologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Estudos Retrospectivos , Ultrassonografia/métodos , Zika virus/fisiologia , Infecção por Zika virus/congênito
9.
BMJ Case Rep ; 11(1)2018 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-30567179

RESUMO

We describe two cases of agenesis of the corpus callosum (ACC) with interhemispheric cyst (IHC). Case 1: a male infant was born at 36 weeks gestation with a history of second trimester fetal ultrasound (US) scan and MRI showing ACC with IHC. His head circumference at birth and 5 months was at 90th centile. He developed infantile spasm and electroencephalogram showed hypsarrhythmia at 5 months of age. Seizures were controlled. He is under evaluation for surgical treatment. Case 2: ACC with a midline cyst was reported in the midtrimester US scan of a male infant. Subsequent fetal scans showed increasing size of the cyst. At birth, he had macrocephaly with a head circumference above 97th centile. MRI of the brain confirmed ACC with IHC. The parents refused a cystoperitoneal shunt offered. The child displayed gross neurodevelopmental delay with progressive hydrocephalus on follow-up and succumbed to aspiration pneumonia at 22 months of age.


Assuntos
Agenesia do Corpo Caloso/diagnóstico , Cistos/diagnóstico , Hidrocefalia/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/complicações , Agenesia do Corpo Caloso/diagnóstico por imagem , Cistos/complicações , Cistos/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Hidrocefalia/complicações , Hidrocefalia/diagnóstico por imagem , Lactente , Imagem por Ressonância Magnética , Masculino , Gravidez , Ultrassonografia Pré-Natal
10.
Neuroradiol J ; 31(4): 420-425, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29882488

RESUMO

Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with exotropia secondary to chronic hydrocephalus. Clinical presentation A 20-year-old male with a history of tuberous sclerosis, X-linked intellectual disability, and epilepsy presented to the emergency department with two days of nausea, emesis, seizures, and two months of progressive proptosis. Initial radiographs of the skull showed a "copper beaten" appearance, indicating chronically elevated intracranial pressure. Computed tomography imaging of the head demonstrated bilateral defects in the cribriform plate and anterior cranial fossa. Magnetic resonance imaging of the brain revealed triventricular hydrocephalus with meningoencephalocele extension into the nasal cavity and frontal horn herniation into the extraconal space of the orbits. The hydrocephalus was managed with ventriculoperitoneal shunt placement with rapid and complete resolution of the proptosis. Conclusion No reports have described bilateral proptosis as the presenting finding of orbital and nasal meningoencephaloceles in the absence of trauma or congenital defect. This case study demonstrates the management of meningoencephalocele formation secondary to chronic hydrocephalus.


Assuntos
Encefalocele/etiologia , Exoftalmia/etiologia , Hidrocefalia/complicações , Meningocele/etiologia , Encéfalo/diagnóstico por imagem , Encéfalo/cirurgia , Doença Crônica , Encefalocele/diagnóstico , Encefalocele/terapia , Exoftalmia/diagnóstico , Exoftalmia/terapia , Exotropia/diagnóstico , Exotropia/etiologia , Exotropia/terapia , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/cirurgia , Masculino , Meningocele/diagnóstico , Meningocele/terapia , Cavidade Nasal , Órbita , Adulto Jovem
12.
World Neurosurg ; 116: e709-e722, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29778601

RESUMO

OBJECTIVE: An enlarged fourth ventricle, otherwise known as fourth ventriculomegaly (4th VM), has been reported previously in the pediatric population, yet literature on adults is scant. We report our experience with 4th VM in adults over an 11-year period and review the literature. MATERIALS AND METHODS: This was a retrospective chart review of adult patients with the diagnosis of 4th VM admitted to the intensive care unit in a tertiary care center. RESULTS: Nine patients were identified with 4th VM. Most presented with symptoms in the posterior fossa. Five cases were related to previous shunting and the underlying neurosurgical diseases, and average time interval to develop symptoms was 5.3 years. We divided our cases into primary, acquired, and degenerative based on the pathophysiology involved. Treatments included extended subzero cerebrospinal fluid diversion using a frontal external ventricular drain followed by low-pressure shunt revision, endoscopic third ventriculostomy, suboccipital decompression, and fourth ventricular catheter placement. Literature review identified additional published cases, and there were no reports of a formal classification scheme or treatment algorithm. CONCLUSIONS: This case series illustrates a narrow spectrum of etiologies associated with 4th VM in adults. We propose a simple classification scheme dividing 4th VM into 3 categories: primary, acquired, and degenerative. We recommend a stepwise treatment approach starting with extended subzero cerebrospinal fluid diversion followed by shunting for symptomatic primary and acquired 4th VM. Lower success rates and greater morbidity are associated with rescue procedures such as fourth ventricle drainage catheters, endoscopic third ventriculostomies, and skull base decompression.


Assuntos
Gerenciamento Clínico , Quarto Ventrículo/diagnóstico por imagem , Hidrocefalia/diagnóstico , Adolescente , Adulto , Feminino , Humanos , Hidrocefalia/classificação , Hidrocefalia/terapia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Adulto Jovem
13.
Neurochirurgie ; 64(3): 203-205, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29709372

RESUMO

Ventriculoperitoneal (VP) shunt surgery is the most widely used technique for the treatment of hydrocephalus. However, it can incur certain complications. Beside frequent complications (infection, obstruction), migration of the peritoneal catheter is a rare but dangerous complication. This report presents the case of a 4-year-old boy who had undergone VP shunt for hydrocephalus. One month later, the patient presented with protrusion of the peritoneal catheter through his mouth. He underwent another procedure to remove the peritoneal catheter, retaining the original ventricular catheter and valve chamber. Progression was favorable. To the best of our knowledge, only 7 cases of VP shunt transoral extrusion were reported, but many risk factors were identified. Bowel perforation is a serious complication of VP shunt surgery, sometimes leading to fatal outcome.


Assuntos
Migração de Corpo Estranho/cirurgia , Hidrocefalia/cirurgia , Derivação Ventriculoperitoneal/efeitos adversos , Cateteres/efeitos adversos , Pré-Escolar , Migração de Corpo Estranho/diagnóstico , Humanos , Hidrocefalia/diagnóstico , Masculino , Próteses e Implantes/efeitos adversos , Fatores de Risco
14.
World Neurosurg ; 116: e543-e549, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29772371

RESUMO

OBJECTIVE: After severe traumatic brain injury (sTBI) associated with uncontrollable high intracranial pressure (ICP), today the main challenge for neurosurgeons remains to identify who may obtain benefit from decompressive craniectomy (DC) and which factors after DC influence the prognosis of these patients. The aim of this paper was to identify the pre- and postoperative determinants of outcome after DC. METHODS: This retrospective study included all patients undergoing DC for sTBI from 2003 to 2011. The 6-month outcome, assessed using the Glasgow Outcome Scale (GOS), was dichotomized into favorable (GOS scores 4 and 5) and unfavorable (GOS scores 1-3) outcome. Predictors of outcome were identified by uni- and multivariate analysis. RESULTS: There were 190 patients who underwent DC for sTBI in this study. Sixty patients (31.6%) died within 30 days after DC. Independent prognostic factors for survival after 30 days were Glasgow Coma Scale score at admission greater than 5 (P = 0.002) and bilateral pupil reactivity (P < 0.0001). Thirty days after DC, 67 patients (51.5%) out of 130 had unfavorable outcome (GOS scores 1-3) and 63 patients (49.5%) presented favorable outcome (GOS scores 4 and 5). The independent preoperative prognostic factors for poor outcome were age over 65 years (P < 0.0001) and bilateral absence of pupil reactivity (P = 0.0165). After DC, onset of postoperative hydrocephalus and delayed cranioplasty (3 months after DC) was associated with unfavorable outcome at multivariate analysis (P = 0.002 and P < 0.0001, respectively). CONCLUSIONS: In our study, the development of hydrocephalus after DC for sTBI and delayed cranial reconstruction were associated with unfavorable outcome.


Assuntos
Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/cirurgia , Craniectomia Descompressiva/efeitos adversos , Craniectomia Descompressiva/tendências , Hidrocefalia/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Lesões Encefálicas Traumáticas/mortalidade , Feminino , Seguimentos , Escala de Resultado de Glasgow/tendências , Humanos , Hidrocefalia/etiologia , Hidrocefalia/mortalidade , Masculino , Pessoa de Meia-Idade , Mortalidade/tendências , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
15.
Rev Chil Pediatr ; 89(1): 92-97, 2018 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29664509

RESUMO

INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. CLINICAL CASE: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). CONCLUSIONS: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.


Assuntos
Anormalidades Múltiplas/diagnóstico , Alopecia/diagnóstico , Cerebelo/anormalidades , Anormalidades Craniofaciais/diagnóstico , Transtornos do Crescimento/diagnóstico , Hidrocefalia/congênito , Síndromes Neurocutâneas/diagnóstico , Pré-Escolar , Humanos , Hidrocefalia/diagnóstico , Recém-Nascido , Masculino , Rombencéfalo
16.
Biosens Bioelectron ; 111: 59-65, 2018 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-29649653

RESUMO

It is very difficult to predict some complications after subarachnoid hemorrhage (SAH), despite rapid advances in medical science. Herein, we introduce a label-free cellulose surface-enhanced Raman spectroscopy (SERS) biosensor chip with pH-functionalized, gold nanoparticle (AuNP)-enhanced localized surface plasmon resonance (LSPR) effects for identification of SAH-induced cerebral vasospasm and hydrocephalus caused by cerebrospinal fluid (CSF). The SERS biosensor chip was implemented by the synthesis reaction of the AuNPs, which were charged positively through pH level adjustment, onto a negatively-charged cellulose substrate with ξ = -30.7 mV. The zeta potential, nanostructural properties, nanocrystallinity, and computational calculation-based electric field distributions of the cellulose-originated AuNPs were optimized to maximize LSPR phenomena and then characterized. Additionally, the performance of the SERS biosensor was compared under two representative excitation laser sources in the visible region (532 nm) and near-infrared region (785 nm). The Raman activities of our SERS biosensor chip were evaluated by trace small molecules (crystal violet, 2 µL), and the biosensor achieved an enhancement factor of 3.29 × 109 for the analytic concept with an excellent reproducibility of 8.5% relative standard deviation and a detection limit of 0.74 pM. Furthermore, the experimental results revealed that the five proposed SERS-based biomarkers could provide important information for identifying and predicting SAH-induced cerebral vasospasm and hydrocephalus complications (91.1% reliability and 19.3% reproducibility). Therefore, this facile and effective principle of our SERS biosensor chip may inspire the basis and strategies for the development of sensing platforms to predict critical complications in various neurosurgical diagnoses.


Assuntos
Hidrocefalia/líquido cefalorraquidiano , Hidrocefalia/etiologia , Análise Espectral Raman/métodos , Hemorragia Subaracnóidea/complicações , Vasoespasmo Intracraniano/líquido cefalorraquidiano , Vasoespasmo Intracraniano/etiologia , Biomarcadores/líquido cefalorraquidiano , Técnicas Biossensoriais/métodos , Celulose/química , Celulose/ultraestrutura , Diagnóstico Precoce , Ouro/química , Humanos , Hidrocefalia/diagnóstico , Limite de Detecção , Nanopartículas Metálicas/química , Nanopartículas Metálicas/ultraestrutura , Reprodutibilidade dos Testes , Propriedades de Superfície , Vasoespasmo Intracraniano/diagnóstico
17.
Neurosurg Clin N Am ; 29(2): 255-262, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29502715

RESUMO

Optimizing outcomes after aneurysmal subarachnoid hemorrhage remains a challenge for neurosurgeons and neurointensivists alike. Although we have learned a lot about the pathophysiology of this disease, many clinical questions are still unanswered. In this review, the authors discuss some of these questions, including the current diagnostic value of lumbar puncture in patients with negative computed tomography scans, the treatment value of blood pressure reduction and antifibrinolytics for prevention of early rebleeding, the indication for antiseizure medications, the optimal management of hydrocephalus and intracranial pressure, the role of clipping, and the options for diagnosis and treatment of delayed cerebral ischemia.


Assuntos
Antifibrinolíticos/uso terapêutico , Isquemia Encefálica/terapia , Hidrocefalia/terapia , Aneurisma Intracraniano/terapia , Hemorragia Subaracnóidea/terapia , Animais , Isquemia Encefálica/diagnóstico , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/prevenção & controle , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/prevenção & controle , Pressão Intracraniana/efeitos dos fármacos , Hemorragia Subaracnóidea/diagnóstico , Hemorragia Subaracnóidea/prevenção & controle
18.
Acta Neurol Belg ; 118(1): 97-103, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29435827

RESUMO

The aim of this study is to evaluate the clinical history and prognosis of children with early-onset hydrocephalus. The retrospective study's inclusion criteria were hydrocephalus diagnosis before the age of 5 years, independent of aetiology, and birth details, January 1, 2000 to December 31, 2014. Overall, 142 children were entered into the study, divided into 11 aetiological groups: premature-birth post-intraventricular haemorrhage (16%), brain tumours (16%), spina bifida (15%), aqueductal stenosis (8%), post-meningitis (8%), post-haemorrhage (8%), Dandy-Walker malformation (6%), unknown origin (6%), arachnoid cyst (5%), miscellaneous obstruction (4%), and various causes (8%). In total, 23 patients died, primarily from the tumour group. Ventriculostomy, performed 42 times, was successful in 20 patients. Overall, 226 internal shunts were placed in 99 children. Infectious complications affected 19% of children after shunt placement and 51% after mechanical complications. Mean follow-up was 4 years 10 months, with 61% of children progressing fairly well, especially those with aqueductal stenosis, cysts, and unknown or diverse obstructive causes. Post-meningitis hydrocephalus displayed the poorest outcome. Isolated obstructive hydrocephalus exhibited better prognosis, with most obstructive aetiologies effectively treated via ventriculostomy. Children treated by shunt placement were more at risk of complications. Aetiologies with associated abnormalities and neurological sequelae had poorer outcomes.


Assuntos
Derivações do Líquido Cefalorraquidiano/efeitos adversos , Progressão da Doença , Hidrocefalia/diagnóstico , Avaliação de Resultados (Cuidados de Saúde) , Complicações Pós-Operatórias/diagnóstico , Derivações do Líquido Cefalorraquidiano/estatística & dados numéricos , Pré-Escolar , Feminino , Seguimentos , Humanos , Hidrocefalia/etiologia , Hidrocefalia/mortalidade , Hidrocefalia/cirurgia , Lactente , Masculino , Complicações Pós-Operatórias/etiologia , Prognóstico , Estudos Retrospectivos , Ventriculostomia/efeitos adversos , Ventriculostomia/estatística & dados numéricos
19.
Brain Dev ; 40(4): 348-352, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29295802

RESUMO

INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control. Laboratory tests were congruent with PDE. She remained seizure-free until age five months, when seizures reappeared in the context of increasing head size and irritability. A cranial ultrasound showed hydrocephalus, for which she underwent ventriculoperitoneal shunting. DISCUSSION: Seven other patients with same features have been previously reported. Seizure onset occurred within the first 7 days in all patients. Most of the children developed hydrocephalus at 6-7 months of age. In 4 out of 7 a genetic mutation was identified, despite the accurate etiology of hydrocephalus was unknown in most of them. The case we report behaved similarly to the others previously described. We postulate that the pathogenesis of this complication could be related to the high expression of antiquitin in choroid plexus epithelium, where the cerebrospinal fluid is produced. CONCLUSIONS: patients with PDE should be closely monitored, since they may present severe complications. We highlight the development of hydrocephalus, an uncommon but potentially life-threatening problem reported in 8 patients up to present time.


Assuntos
Epilepsia/complicações , Hidrocefalia/complicações , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Epilepsia/terapia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/fisiopatologia , Hidrocefalia/cirurgia , Lactente
20.
Neuroradiol J ; 31(4): 430-433, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28653564

RESUMO

Blake's pouch cyst is a posterior fossa cystic malformation characterized by a infracerebellar cyst, absence of communication between the fourth ventricle and the subarachnoid space, and tetraventricular hydrocephalus. Children with Blake's pouch cyst typically present with macrocephaly due to hydrocephalus during the neonatal period or infancy. Atypical presentation is, however, possible. Here we present clinical and neuroimaging findings, as well as management and outcome, of an 18-month-old girl with atypical presentation of Blake's pouch cyst characterized by cerebellar ataxia. Familiarity with the neuroimaging findings of Blake's pouch cyst and differentiation between Blake's pouch cyst and other posterior fossa cystic malformations is important in terms of diagnosis, management, prognosis, and counseling of the affected families.


Assuntos
Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/diagnóstico por imagem , Cistos/diagnóstico , Hidrocefalia/diagnóstico , Encéfalo/cirurgia , Fossa Craniana Posterior/cirurgia , Cistos/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Hidrocefalia/cirurgia , Lactente
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