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OBJECTIVE: To assess if ventricular size before shunting is correlated with neurodevelopmental outcomes in children with postnatal myelomeningocele closure. STUDY DESIGN: This retrospective review included children with postnatal surgical closure of myelomeningocele and neuropsychological testing between 2018 and 2023 at the University of California, San Francisco. Frontal-occipital horn ratio (FOHR) was measured immediately before shunt placement or on the first study that reported ventricular stability for nonshunted patients. The primary outcome was full scale IQ (FSIQ) on the Weschler Intelligence Scale. Secondary outcomes included indices of the Weschler scale, the Global Executive Composite from the Behavior Rating Inventory of Executive Function, and the general adaptive composite from the Adaptive Behavior Assessment Scale. Univariable and multivariable regression was used to determine if FOHR was correlated with neuropsychological scores. RESULTS: Forty patients met the inclusion criteria; 26 (65%) had shunted hydrocephalus. Age at neuropsychological testing was 10.9 ± 0.6 years. FOHR was greater in the shunted group (0.64 vs 0.51; P < .001). There were no differences in neuropsychological results between shunted and nonshunted groups. On univariable analysis, greater FOHR was associated with lower FSIQ (P = .025) and lower Visual Spatial Index scores (P = .013), which remained significant on multivariable analysis after adjusting for gestational age at birth, lesion level, shunt status, and shunt revision status (P = .049 and P = .006, respectively). Separate analyses by shunt status revealed that these effects were driven by the shunted group. CONCLUSIONS: Greater FOHR before shunting was correlated with lower FSIQ and the Visual Spatial Index scores on the Weschler Intelligence Scales. Larger studies are needed to explore further the relationship between ventricle size, hydrocephalus, and neurodevelopmental outcomes.
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Ventrículos Cerebrais , Hidrocefalia , Meningomielocele , Testes Neuropsicológicos , Humanos , Estudos Retrospectivos , Feminino , Masculino , Meningomielocele/cirurgia , Meningomielocele/complicações , Criança , Hidrocefalia/cirurgia , Ventrículos Cerebrais/cirurgia , Derivações do Líquido Cefalorraquidiano , Tamanho do ÓrgãoRESUMO
BACKGROUND: Limited information exists in the prenatal literature regarding the neuroimaging features of fetal hemimegalencephaly. SUMMARY: This report describes ultrasound and magnetic resonance imaging (MRI) findings in a second-trimester fetus with an isolated, severe form of hemimegalencephaly. The most prominent imaging findings included unilateral enlarged cerebral hemisphere and ipsilateral ventriculomegaly causing cerebral asymmetry, midline shift, and macrocephaly. Abnormal cortical development imaging signs were also evident. A literature review encompassing 23 reports describing 36 cases, including ours, is presented. KEY MESSAGES: Characteristic ultrasound findings for the diagnosis of hemimegalencephaly are not always apparent prenatally. Asymmetric ventriculomegaly emerges as the most common but nonspecific presenting feature during routine second- or third-trimester ultrasound scans. Subsequent high-resolution prenatal neurosonography and fetal MRI facilitate definitive prenatal diagnosis, showcasting associated features primarily related to cortical migration, differentiation, and maturation. Postnatally, the prognosis is poor due to intractable seizures, hemiplegia, and progressive neurodevelopmental delay.
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Hemimegalencefalia , Hidrocefalia , Malformações do Sistema Nervoso , Gravidez , Feminino , Humanos , Hemimegalencefalia/patologia , Ultrassonografia Pré-Natal/métodos , Diagnóstico Pré-Natal/métodos , Feto/patologia , Hidrocefalia/patologia , Imageamento por Ressonância Magnética/métodos , NeuroimagemRESUMO
The sonographic findings in four fetuses presenting with ventriculomegaly at first-trimester ultrasound that were subsequently diagnosed as having agenesis of the corpus callosum (ACC) are described. The diagnosis of early ventriculomegaly was suspected subjectively by identification of increased cerebrospinal fluid within the lateral ventricles and confirmed by measuring choroid plexus-to-lateral ventricle length and area ratios. Subsequent scans revealed complete ACC in two cases and partial ACC in the other two. This report adds to the increasing evidence suggesting that first-trimester ventriculomegaly is a strong sonographic marker of underlying brain anomalies, including less evident malformations such as ACC. Detailed second-trimester fetal neurosonography in those women continuing their pregnancies should be performed.
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Hidrocefalia , Diagnóstico Pré-Natal , Gravidez , Feminino , Humanos , Primeiro Trimestre da Gravidez , Corpo Caloso/diagnóstico por imagem , Ultrassonografia Pré-Natal , Hidrocefalia/diagnóstico por imagem , Feto , Imageamento por Ressonância Magnética , Estudos RetrospectivosRESUMO
La ventriculomegalia es un marcador del desarrollo cerebral anormal por lo cual es causa de preocupación cuando está presente. Tiene una prevalencia de 0,3 a 1/1000 nacidos vivos y es más frecuente en fetos varones. La ventriculomegalia es definida como el diámetro atrioventricular de los ventrículos laterales mayor o igual a 10 mm. La medida de 10-15 mm constituye la ventriculomegalia leve mientras valores > 15 mm constituye la ventriculomegalia severa. La ventriculomegalia puede ser aislada o estar asociada con otras anomalías incluyendo hallazgos estructurales anormales, anomalías cromosómicas o infecciones prenatales en cerca del 50-84% de los casos. Si la ventriculomegalia es leve y aislada, el resultado más frecuente es la normalidad. La sobrevida de los recién nacidos con ventriculomegalia leve aislada es alta, con reportes del 93-98%. La probabilidad de un neurodesarrollo normal es mayor al 90% y no será diferente al de la población general, por lo cual, ante una ventriculomegalia leve aislada, después de una completa evaluación, la gestante debe ser informada que el pronóstico es favorable y que probablemente el niño será considerado normal. Presentamos un caso de ventriculomegalia leve fetal izquierda aislada detectada en la ecografía prenatal de las 20 semanas, a quien se le realizó controles neurosonográficos seriados, amniocentesis genética y estudio de infecciones prenatales, siendo estos dos últimos normales y evidenciándose resolución de la ventriculomegalia, así como control posparto dentro de los límites de la normalidad.
Ventriculomegaly is a marker of abnormal brain development and is a cause for concern when present. It has a prevalence of 0.3-1/1000 live births and is more frequent in male fetuses. Ventriculomegaly is defined as the atrioventricular diameter of the lateral ventricles greater than or equal to 10 mm. A measurement of 10-15 mm constitutes mild ventriculomegaly while values >15 mm constitute severe ventriculomegaly. Ventriculomegaly may be isolated or associated with other anomalies including abnormal structural findings, chromosomal abnormalities or prenatal infections in about 50-84% of cases. If ventriculomegaly is mild and isolated, the most frequent outcome is normal. Survival of newborns with isolated mild ventriculomegaly is high, with reports of 93-98%. The probability of normal neurodevelopment is greater than 90% and will not be different from that of the general population. Therefore, in the presence of isolated mild ventriculomegaly, after a complete evaluation, the pregnant woman should be informed that the prognosis is favorable, and that the child will probably be considered normal. We present a case of isolated mild left ventriculomegaly detected in the prenatal ultrasound at 20 weeks, who underwent serial neurosonographic controls, genetic amniocentesis and study of prenatal infections, the latter two being normal and showing resolution of ventriculomegaly, as well as postpartum control within the limits of normality.
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Objective: The aim of this study was to assess the accuracy of prenatal imaging for the diagnosis of congenital Zika syndrome. Data sources: Medline (via Pubmed), PubMed, Scopus, Web of Science, and Google Scholar from inception to March 2022. Two researchers independently screened study titles and abstracts for eligibility. Study eligibility criteria: Observational studies with Zika virus-infected pregnant women were included. The index tests included ultrasound and/or magnetic resonance imaging. The reference standard included (1) Zika infection-related perinatal death, stillbirth, and neonatal death within the first 48 h of birth, (2) neonatal intensive care unit admission, and (3) clinically defined adverse perinatal outcomes. Synthesis methods: We extracted 2 × 2 contingency tables. Pooled sensitivity and specificity were estimated using the random-effects bivariate model and assessed the summary receiver operating characteristic (ROC) curve. Risk of bias was assessed using QUADAS 2 tool. The certainty of the evidence was evaluated with grading of recommendations. Results: We screened 1,459 references and included 18 studies (2359 pregnant women, 347 fetuses with confirmed Zika virus infection). Twelve studies (67%) were prospective cohorts/case series, and six (37%) were retrospective cohort/case series investigations. Fourteen studies (78%) were performed in endemic regions. Ten studies (56%) used prenatal ultrasound only, six (33%) employed ultrasound and fetal MRI, and two studies (11%) used prenatal ultrasound and postnatal fetal MRI. A total of six studies (ultrasound only) encompassing 780 pregnant women (122 fetuses with confirmed Zika virus infection) reported relevant data for meta-analysis (gestation age at which ultrasound imagining was captured ranged from 16 to 34 weeks). There was large heterogeneity across studies regarding sensitivity (range: 12 to 100%) and specificity (range: 50 to 100%). Under a random-effects model, the summary sensitivity of ultrasound was 82% (95% CI, 19 to 99%), and the summary specificity was 97% (71 to 100%). The area under the ROC curve was 97% (95% CI, 72 to 100%), and the summary diagnostic odds ratio was 140 (95% CI, 3 to 7564, P < 0.001). The overall certainty of the evidence was "very low". Conclusion: Ultrasound may be useful in improving the diagnostic accuracy of Zika virus infection in pregnancy. However, the evidence is still substantially uncertain due to the methodological limitations of the available studies. Larger, properly conducted diagnostic accuracy studies of prenatal imaging for the diagnosis of congenital Zika syndrome are warranted. Systematic review registration: Identifier [CRD42020162914].
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OBJECTIVE: To study the prevalence of abnormalities of the septi pellucidi (SP) in a cohort of fetuses with open spinal dysraphism (OSD) and to determine whether this condition is secondary to obstructive ventriculomegaly and, therefore, part of the natural history of prenatal intracranial hypotension (PICH) syndrome. METHODS: Magnetic resonance imaging (MRI) studies from fetuses with OSD were analyzed. The SP were assessed using axial and coronal T2-weighted images of the fetal brain and classified as intact, partially absent, or completely absent. Additionally, the correlation between the presence or absence of the SP and the size of the lateral ventricles, degree of cerebellar tonsillar herniation, collapse of the fourth ventricle, and interpeduncular angle was investigated. RESULTS: A total of 32 fetuses with OSD were studied. Mean gestational age at the time of the fetal MRI was 25.5 ± 3.9 weeks (range, 19-35) and mean ventricular size was 16.2 ± 4.2 mm (range, 8-26). Twenty-three (71.9%) fetuses had cerebellar tonsillar herniation. The IPA was completely collapsed in 23 cases (71.9%), reduced in seven (21.9%), and unreadable in two (6.3%). Twenty (62.5%) fetuses presented with intact SP, 10 (31.3%) with partially absent SP (incomplete fenestration), and two (6.3%) with completely absent SP (complete fenestration). Fenestration of the SP correlated significantly with the degree of ventriculomegaly (Pearson's correlation coefficient =0.459; p = .01). However, there was no correlation with the IPA, collapse of the fourth ventricle, and cerebellar tonsillar herniation. CONCLUSIONS: More than one-third of the fetuses with OSD had fenestration of the SP. The most probable etiology is increased intraventricular pressure leading to local necrosis of the SP. As fenestration of the SP is a secondary event associated with PICH syndrome, this condition should not be considered a contraindication for intrauterine repair of the spinal defect. Instead, it should be seen as an indicator of the severity of the intraventricular pressure.
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Hidrocefalia , Hipotensão Intracraniana , Malformações do Sistema Nervoso , Disrafismo Espinal , Gravidez , Feminino , Humanos , Hipotensão Intracraniana/complicações , Encefalocele/diagnóstico por imagem , Encefalocele/epidemiologia , Encefalocele/complicações , Hidrocefalia/diagnóstico por imagem , Disrafismo Espinal/complicações , Feto/diagnóstico por imagem , Malformações do Sistema Nervoso/complicações , Idade Gestacional , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodosRESUMO
INTRODUCTION: Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis (SC) requires understanding the underlying mechanisms that cause increased intracranial pressure (ICP) and the role of cerebrospinal fluid (CSF) in cranial vault expansion in order to select the best treatment option for each individual patient. METHODS: A total of 33 pediatric patients with SC requiring craniofacial surgery were retrospectively evaluated. Cases of nonsyndromic craniosynostosis and shunt-induced craniosynostosis were excluded. Six syndrome-based categories were distinguished: Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, cloverleaf skull syndrome, and others (Muenke syndrome, Sensenbrenner syndrome, unclassified). All of the patients were treated surgically for their cranial deformity between 2010 and 2016. The presence of ventriculomegaly and ventriculoperitoneal (VP) shunt requirement with its impact in cranial vault expansion were analyzed. Clinical and neuroimaging studies covering the time from presentation through the follow-up period were revised. The mean postoperative follow-up was 6 years and 3 months. A systematic review of the literature was conducted through a PubMed search. RESULTS: Of the total of 33 patients with SC, 18 (54.5%) developed ventriculomegaly and 13 (39.4%) required ventriculoperitoneal (VP) shunt placement. Six patients (18.2%) required shunt placement previous to craniofacial surgery. Seven patients (21.2%) required a shunt after craniofacial surgery. Seven fixed pressure ventriculoperitoneal shunts and six programmable valves were placed as first choice. All patients improved their clinical symptoms after shunt placement. Aesthetic results seemed to be better in patients with programmable shunts. CONCLUSIONS: Unless clear criteria for overt hydrocephalus are present, it is recommended to perform craniofacial surgery as a first step in the management of patients with SC in order to preserve the expansive effect of CSF for cranial vault expansion. In our experience, the use of externally programmable valves allows for the treatment of hydrocephalus while maintaining the expansive effect of CSF for the remodeling of the cranial vault. Prospective evaluations are needed to determine causality.
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Craniossinostoses , Hidrocefalia , Criança , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Humanos , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Estudos Retrospectivos , Crânio/cirurgia , Derivação VentriculoperitonealRESUMO
BACKGROUND: Hydrocephalus is a neurologic disturbance produced by the abnormal production, circulation, and absorption of cerebrospinal fluid (CSF). Late-onset idiopathic aqueductal stenosis induces normal pressure hydrocephalus (NPH) in adults. To date, no animal model replicating chronic NPH is available to study the pathophysiological changes observed in these subjects. NEW METHOD: We performed and characterized a model that induces chronic hydrocephalus in the adult mouse brain by producing a pre-aqueductal semiobstruction using an acetate lamina inserted into the atrium of the aqueduct of Sylvius. After surgical procedure, we analyzed the hydrocephalus development on days 60 and 120 and sham-operated animals were used as controls. We included an additional group of hydrocephalus resolution in which we removed the obstruction and analyzed the morphological changes in the brain. RESULTS: The hydrocephalus was fully established on day 60 after the obstruction and remained stable for 120 days. In all animals, the intracranial pressure remained ~4.08 mmHg and we did not find statistically significant differences between the hydrocephalus groups and controls. We did not find motor impairments and anxiety-like behaviors among groups and the analysis of microglia and astrogliosis revealed mild glial reactivity. COMPARISON WITH EXISTING METHODS: This model generates a long-term ventricular enlargement with normal intracranial pressure and moderate glial reactivity. Importantly, this model allows the reversibility of ventricular enlargement after the removal of the obstructive film from the brain. CONCLUSIONS: This mouse model may be useful to study the long-term cerebral alterations that occur during NPH or after its surgical resolution.
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Aqueduto do Mesencéfalo , Hidrocefalia , Animais , Ventrículos Cerebrais , Modelos Animais de Doenças , Hidrocefalia/etiologia , Pressão Intracraniana , Imageamento por Ressonância Magnética , CamundongosRESUMO
PURPOSES: Demonstrate that transcranial ultrasonography (TUS) scanning is viable and useful as a diagnostic method in experimental hydrocephalus, as well as to compare measurements of cerebral and ventricular width obtained from TUS scans of hydrocephalic rats with post-mortem anatomical specimens, aiming for the development of accurate criteria to establish ventricular enlargement and progression of hydrocephalus subsequently. METHODS: Thirty-five male Wistar rats were used. Following hydrocephalus induction, they underwent a transcranial ultrasound scan to measure cerebral and ventricular dimensions, in the fourth and 21 post-induction days. By the end of the experiments, measurements obtained from TUS scans were compared with actual values as seen in the post-mortem specimens of each animal. RESULTS: Ventricular dilation could be clearly visualized in hydrocephalic animals. We performed intraclass correlation coefficient and linear regression analyses that have demonstrated a precise correlation between measurements of TUS scans and post-mortem specimens; we have found a similarity of 0,95 for the cerebral diameter and 0,97 for ventricular width. CONCLUSIONS: Transcranial ultrasonography is a useful and reliable diagnostic tool for experimental hydrocephalus; also, it can be used to assess the progression of ventriculomegaly in animal models of hydrocephalus.
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Hidrocefalia , Animais , Ventrículos Cerebrais/diagnóstico por imagem , Hidrocefalia/diagnóstico por imagem , Masculino , Projetos Piloto , Ratos , Ratos Wistar , UltrassonografiaRESUMO
INTRODUCTION: Spontaneous ventriculomegaly has been observed in rats that were presumed normal. Because the external phenotype of these animals is unremarkable, they can be inadvertently included in behavioral experiments, despite the considerable enlargement of the ventricular system, reduced cortical thickness, and hippocampal atrophy upon imaging. Given the role of such structures in memory consolidation, we evaluated long-term memory retention while decision making in rats with spontaneous ventriculomegaly. METHODS: We studied adult male Sprague Dawley rats, identified as having spontaneous ventriculomegaly, while performing baseline magnetic resonance imaging scanning intended for a different research protocol. Control (n = 7) and experimental (n = 6) animals were submitted to a delayed-alternation task (no delay, 30, 60, and 180 s) and an object-in-context recognition task. During the first task, we evaluated the number of correct choices as well as the latency to reach any of the cavities located at the end of each branch arm during each trial. The second task assessed the rodents' ability to remember where they had previously encountered a specific object, calculating the context recognition index. RESULTS: When compared to control animals, rats with spontaneous ventriculomegaly required significantly more training sessions to reach the 80% criterion during the training phase. Moreover, they showed reduced delayed-alternation performance in the evaluated times, reaching significance only at 180 s. Increased latencies while trying to reach the cavity were also observed. Evaluation of the long-term memory formation during the object-in-context recognition task showed that subjects with ventriculomegaly spent less time investigating the familiar object, resulting in a significantly decreased recognition index value. CONCLUSION: Our results are the first to show how spontaneous ventriculomegaly-induced cerebral structural damage affects decision-making behaviors, particularly when comparing between immediate and delayed trials. Moreover, this lesion disrupts the animals' ability to recall or express contextual information.
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Hidrocefalia/complicações , Transtornos da Memória/complicações , Transtornos da Memória/fisiopatologia , Memória , Animais , Hipocampo/patologia , Hipocampo/fisiopatologia , Hidrocefalia/patologia , Hidrocefalia/fisiopatologia , Masculino , Transtornos da Memória/patologia , Memória de Longo Prazo , Ratos , Ratos Sprague-Dawley , Reconhecimento PsicológicoRESUMO
BACKGROUND: Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex and challenging undertaking. VM can range from severe pathologic processes leading to severe neurodevelopmental delay to normal variants. DISCUSSION: A growing number of genetic conditions with different pathophysiological mechanisms, inheritance patterns, and long-term prognosis have been associated both to isolated and complex fetal VM. These include chromosomal abnormalities, copy number variants, and several single gene diseases. In this review, we describe some of the most common genetic conditions associated with fetal VM and provide a simplified diagnostic workflow for the clinician.
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Hidrocefalia , Malformações do Sistema Nervoso , Feminino , Feto/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Gravidez , Cuidado Pré-Natal , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Hence, patients with this deffect require a strict follow-up during their postnatal life. Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal intelligence. We also provide a literature review about the postnatal screening of neurocognitive deficits in patients with agenesis of the corpus callosum. CASE PRESENTATION: An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified during the neonatal period by cranial ultrasonography and brain computed tomography scan. However, he did not present any craniofacial or non-cerebral malformation suggestive of a congenital syndrome. Furthermore, he showed no neuropsychiatric disorder or intellectual disability during his early childhood. At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. At his arrival, a neurological examination was normal with no signs of intracranial hypertension. His intelligence quotient was unaltered and he scored normal in the Mini-Mental State Examination test. The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. Thus, our patient was scheduled for future annual neurocognitive testing. CONCLUSIONS: Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow-up. We provide an informative reference tool useful for the postnatal neuropsychological screening of patients with isolated agenesis of the corpus callosum.
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Agenesia do Corpo Caloso/diagnóstico por imagem , Inteligência , Agenesia do Corpo Caloso/complicações , Agenesia do Corpo Caloso/patologia , Criança , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia , Masculino , Transtornos Neurocognitivos/diagnóstico , Transtornos Neurocognitivos/etiologia , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
We report a successful bilateral globus pallidus internus-deep brain stimulation (GPi-DBS) for a Parkinson disease (PD) patient with idiopathic normal pressure hydrocephalus (INPH) and an unusually long anterior commissure-posterior commissure (AC-PC) line. A 54-year-old man presented with a history of 3 months of severe shuffling gait, rigidity, slow movements of the left side limbs, and difficulty managing finances. A brain MRI revealed marked ventriculomegaly (Evans index = 0.42). The patient was diagnosed with INPH and a ventriculoperitoneal shunt was placed. Cognitive impairment improved, but walking disturbances, slowness, and rigidity persisted. Then treatment with levodopa was added, and the patient experienced a sustained improvement. He was diagnosed with PD. After 7 years, the patient developed gait freezing and severe levodopa-induced dyskinesia. The patient underwent bilateral GPi-DBS. We used MRI/CT fusion techniques for anatomical indirect targeting. Indirect targeting is based on standardized stereotactic atlas and on a formula-derived method based on AC-PC landmarks. The AC-PC line was 40 mm (the usual length is between 19 and 32 mm). Intraoperative microelectrode recording was a non-expendable test, but multiple recordings were avoided to reduce the surgical risk of ventricular involvement. There was a 71% decrease in the UPDRS III score during the on-stimulation state (28 to 8). The patient's dyskinesias resolved dramatically with a UdysRS of 15 (88% improvement) during the on-stimulation condition. The observed motor benefits and the improvement of his daily activities have persisted 6 months after surgery. Deep brain stimulation surgery in PD with ventriculomegaly is a challenge. This procedure can result in a greater chance of breaching the ventricle, with risks of intraventricular hemorrhage and migration of cerebrospinal fluid into the brain parenchyma with target displacement. Furthermore, clinical judgment is paramount when recent onset of shuffling gait coexists with ventriculomegaly because the most common dilemma is differentiating between PD and INPH. For these reasons, neurologists and surgeons may refuse to operate on PD patients with ventriculomegaly. However, DBS should be considered for PD patients with motor complications when responsiveness to levodopa is demonstrated, even in the context of marked ventriculomegaly.
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La Ventriculomegalia y la hidrocefalia fetal son enfermedades complejas y multifactoriales. El tamaño del sistema ventricular cambia durante el embarazo excepto el atrio que se mantiene estable entre 6 a 8 mm, desde la 15 a las 40 semanas gestacionales. Cuya incidencia es de hasta 2 por 1000 nacimientos. Puede asociarse con hidrocefalia, pero también puede estar relacionado con disminución del tejido cerebral normal. El desarrollo neurológico puede correlacionarse con la gravedad de la ampliación ventricular, la cual varía según a causa y la presencia de otras malformaciones asociadas. Las causas de ventriculomegalia, son casi las misma de la hidrocefalia, ya que en ambos existe un aumento del perímetro cefálico, pero existe también casos de ventriculomegalia, sin problemas con la cantidad de líquido cefalorraquídeo, como en la atrofia cerebral por infección intracraneana, daño de sustancia blanca y hemorragia focal. Dentro de los criterios prenatales debe destacarse, antecedentes de madre con polihidramnios, hallazgos ultrasonográficos fetales de ventriculomegalia, niveles altos de alfa feto proteína sérica materna o del líquido amniótico. El diagnóstico prenatal se realiza gracias al advenimiento de la ecografía prenatal de alta resolución, logrando observarse la dilatación ventricular de rutina dentro del útero. Ayudado por la resonancia magnética y es confirmado al nacimiento.
Ventriculomegalyand fetal hydrocephalus are complex and multifactorial diseases. The size of the ventricular system changes during pregnancy and the atrium remains between 6 to 8 mm, from 15 to 40 gestational weeks. Whose incidence is up to 2 per 1000 births. It may be associated with hydrocephalus, but it may also be related to the injury of normal brain tissue. Neurological development can be correlated with the severity of ventricular enlargement, which varies according to the cause and the presence of other associatedmalformations. The causes of ventriculomegaly are almost the same as hydrocephalus, and in both cases there is an increase in the cephalic perimeter, but there are also cases of ventriculomegaly, without problems with the amount of cerebrospinal fluid, asin the cerebral atrium due to intracranial infection, damage of white matter and focal hemorrhage. Within the prenatal criteria should be noted, mother's history with polyhydramnios, fetal ultrasound findings of ventriculomegaly, high levels of alpha fetus, maternal serum protein or amniotic fluid. The prenatal diagnosis is made thanks to the advent of high resolution prenatal ultrasound, making it possible to observe routine ventricular dilatation within the uterus. Helped by magnetic resonance and is confirmed at birth.
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Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Diagnóstico Pré-Natal , Feto , Hidrocefalia , Gravidez , Ultrassonografia , CérebroRESUMO
BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly and manifests as a number of signs and symptoms that are detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital Zika virus infection and detected brain abnormalities were (1) to assess the prevalence of microcephaly and the frequency of the anomalies that include a detailed description based on ultrasound and magnetic resonance imaging in fetuses and ultrasound, magnetic resonance imaging, and computed tomography imaging postnatally, (2) to provide quantitative measures of fetal and infant brain findings by magnetic resonance imaging with the use of volumetric analyses and diffusion-weighted imaging, and (3) to obtain additional information from placental and fetal histopathologic assessments and postnatal clinical evaluations. STUDY DESIGN: This is a longitudinal cohort study of Zika virus-infected pregnancies from a single institution in Colombia. Clinical and imaging findings of patients with laboratory-confirmed Zika virus infection and fetal brain anomalies were the focus of this study. Patients underwent monthly fetal ultrasound scans, neurosonography, and a fetal magnetic resonance imaging. Postnatally, infant brain assessment was offered by the use of ultrasound imaging, magnetic resonance imaging, and/or computed tomography. Fetal head circumference measurements were compared with different reference ranges with <2 or <3 standard deviations below the mean for the diagnosis of microcephaly. Fetal and infant magnetic resonance imaging images were processed to obtain a quantitative brain volumetric assessment. Diffusion weighted imaging sequences were processed to assess brain microstructure. Anthropometric, neurologic, auditory, and visual assessments were performed postnatally. Histopathologic assessment was included if patients opted for pregnancy termination. RESULTS: All women (n=214) had been referred for Zika virus symptoms during pregnancy that affected themselves or their partners or if fetal anomalies that are compatible with congenital Zika virus syndrome were detected. A total of 12 pregnant patients with laboratory confirmation of Zika virus infection were diagnosed with fetal brain malformations. Most common findings that were assessed by prenatal and postnatal imaging were brain volume loss (92%), calcifications (92%), callosal anomalies (100%), cortical malformations (89%), and ventriculomegaly (92%). Results from fetal brain volumetric assessment by magnetic resonance imaging showed that 1 of the most common findings associated with microcephaly was reduced supratentorial brain parenchyma and increased subarachnoid cerebrospinal fluid. Diffusion weighted imaging analyses of apparent diffusion coefficient values showed microstructural changes. Microcephaly was present in 33.3-58.3% of the cases at referral and was present at delivery in 55.6-77.8% of cases. At birth, most of the affected neonates (55.6-77.8%) had head circumference measurements >3 standard deviations below the mean. Postnatal imaging studies confirmed brain malformations that were detected prenatally. Auditory screening results were normal in 2 cases that were assessed. Visual screening showed different anomalies in 2 of the 3 cases that were examined. Pathologic results that were obtained from 2 of the 3 cases who opted for termination showed similar signs of abnormalities in the central nervous system and placental analyses, including brain microcalcifications. CONCLUSION: Congenital microcephaly is not an optimal screening method for congenital Zika virus syndrome, because it may not accompany other evident and preceding brain findings; microcephaly could be an endpoint of the disease that results from progressive changes that are related to brain volume loss. Long-term studies are needed to understand the clinical and developmental relevance of these findings.
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Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/epidemiologia , Adolescente , Adulto , Calcinose/diagnóstico por imagem , Líquido Cefalorraquidiano/fisiologia , Estudos de Coortes , Colômbia/epidemiologia , Diagnóstico por Imagem , Potenciais Evocados Auditivos , Potenciais Evocados Visuais , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Recém-Nascido , Estudos Longitudinais , Microcefalia/virologia , Gravidez , Espaço Subaracnóideo/fisiologia , Adulto Jovem , Infecção por Zika virus/congênitoRESUMO
BACKGROUND: Zika virus (ZIKV) is a neurotropic and neurotoxic RNA Flavivirus prompt to cause severe fetal brain dysmorphisms during pregnancy, a period of rapid and critical central nervous system development. A wide range of clinico-radiological findings of congenital ZIKV infections were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, intracranial calcifications, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and joint contractures. ZIKV is also related to other severe neurological manifestations in grown-up individuals such as Guillain-Barré syndrome and encephalomyelitis. PURPOSE: Our purpose is to review the radiological central nervous system abnormalities of congenital ZIKV infection syndrome on different imaging modalities.
Assuntos
Neuroimagem/métodos , Infecção por Zika virus/diagnóstico por imagem , Criança , Pré-Escolar , Olho/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Microcefalia/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/etiologia , Gravidez , Complicações Infecciosas na Gravidez , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion. Babies with severe brain lesions are born with arthrogryposis. Histologically, there is extensive destruction of the hemispheric parenchyma, calcifications, various disturbances of neuronal migration, reactive gliosis, microglial hyperplasia and occasional perivascular cuffs of lymphocytes, also in the meninges. Hypoplastic lesions secondary to the lack of descending nerve fibers include small basis pontis, pyramids and spinal corticospinal tracts. Cerebellar hypoplasia is also common. Severe nerve motor nerve cell loss is observed in the anterior horn of the spinal cord. CONCLUSION: A spectrum of neuropathological changes, from severe microcephaly to obstructive hydrocephalus was observed. The severity of the lesions is directly related to the gestational age, the most severe occurring when the mother is infected in the first trimester. Infection of progenitor cells at the germinal matrix was demonstrated. The lack of spinal motor neurons is responsible for fetal acynesia and consequent arthrogryposis.
Assuntos
Infecção por Zika virus/congênito , Infecção por Zika virus/patologia , Adulto , Encéfalo/patologia , Brasil , Feminino , Humanos , Recém-Nascido , Microcefalia/etiologia , Microcefalia/patologia , Sistema Nervoso/patologia , GravidezRESUMO
Los defectos del tubo neural representan la segunda causa de malformación congénita más frecuentes del desarrollo prenatal y constituyen el 10% de las mismas. Su origen suele ser multifactorial, dando lugar a un cierre incompleto o defectuoso del neuroporo anterior y/o posterior, y ocasionando diferentes niveles de defectos en el sistema nervioso central. A pesar de toda la investigación realizada, nuestros conocimientos sobre la etiología genética de esta malformación son todavía muy limitados. Se desconoce cuántos genes pueden conferir riesgo de anomalía en el desarrollo del tubo neural. El diagnóstico se basa principalmente en el estudio ecográfico del sistema nervioso central en el segundo trimestre de la gestación, aunque su valoración en el primer trimestre nos permite una aproximación diagnóstica bastante confiable por la presencia de marcadores ecográficos descritos hace pocos años. Una vez confirmado el diagnóstico el manejo depende (en países como España en donde se permite el aborto) de la voluntad de los padres de continuar o no con la gestación; y en caso de continuar, existen opciones de tratamiento quirúrgico intrauterino o posterior al nacimiento. El pronóstico de esta malformación suele ser variable y depende de localización, tamaño y su asociación o no con hidrocefalia.
Neural tube defects are the second most frequent cause of congenital malformation during prenatal development. They constitute 10% of them. The origin is usually multifactorial, and it results in an incomplete or defective closure of the anterior or posterior neuropore, causing different levels of defects in the central nervous system. Despite all the research done, our knowledge of genetics in this topic is very limited so we don't know how many genes can confer risk of anomaly in the development of the neural tube. Diagnosis is mainly based on the ultrasound study of the central nervous system generally during the second trimester. Nevertheless, assessment in the first trimester allows us a fairly reliable diagnostic approach by means of the echographic markers described a few years ago. Once the diagnosis is confirmed, and if abortion is allowed in the country, the management depends on the parents' willingness to continue or not with the gestation. In case of continuing with it, there are options for intrauterine or post-natal surgical treatment. The prognosis of this malformation is usually variable and depends on location, size and its association or not with hydrocephalus.
RESUMO
OBJECTIVE: To describe a technique for the visualization and measurement of cerebral aqueduct diameter through a 2D sagittal median plane, and to report its aspect and measurement in fetuses with aqueductal stenosis (AS). METHODS: This was a cross-sectional study of 207 morphologically normal fetuses in low-risk pregnancies between 20 and 36 weeks of gestation. The cerebral aqueduct was visualized transvaginally in a midsagittal plane, and measurements of its greatest diameter (ampulla) were taken independently by an expert and a nonexpert sonographer. In addition, the aqueduct morphology from 7 fetuses with AS and complete follow-up were compared to the reference range. RESULTS: Aqueductal measurements were obtained in 206 of 207 normal fetuses. Aqueductal growth occurred linearly with gestational age. Our method demonstrated excellent interobserver reproducibility. Among the 7 fetuses with AS, the aqueductal lumen could not be identified in 6 and had a funneling aspect in 1. DISCUSSION: Our study demonstrated that it is possible to visualize and measure the cerebral aqueduct directly through a 2D ultrasound median plane. In fetuses with severe ventriculomegaly, the morphology and width of this structure could represent a relevant tool in improving AS diagnosis, differentiating it from other causes of significant ventricular dilation that carry a different outcome.
Assuntos
Aqueduto do Mesencéfalo/diagnóstico por imagem , Hidrocefalia/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To describe the consequences of Zika virus infection at 10 weeks of gestation in an IVF-conceived pregnancy in Venezuela. DESIGN: A case report. SETTING: Private assisted reproduction unit. PATIENT(S): A 36-year-old patient who conceived her first pregnancy through IVF and became infected with Zika virus at 10 weeks' gestation in Venezuela. INTERVENTION(S): In vitro fertilization with fresh ET. Clinical, laboratory, and imaging Zika diagnostic methods. MAIN OUTCOME MEASURE(S): Zika virus detection by real-time polymerase chain reaction (PCR) in maternal plasma, PCR in amniotic fluid and umbilical cord blood. Ultrasonography findings of anatomic abnormalities. RESULT(S): Zika infection was confirmed at 10 weeks' gestation by real-time PCR; ultrasound results appeared normal. At 19 weeks' gestation, an ultrasound revealed biometry on three SDs below the means for all parameters but with no apparent anatomic abnormality. Zika virus was positive in maternal urine and amniotic fluid by PCR at 19 weeks' gestation. Ultrasound at 21 weeks + 4 days of gestation showed fetal cerebellar hypoplasia with ventricular dysmorphia, particularly marked on the left, consistent with microcephaly and ventriculomegaly. Because of the poor prognosis, pregnancy was interrupted at 24 weeks' gestation, in France. The PCR in umbilical cord blood taken in this procedure was positive for Zika virus. CONCLUSION(S): Initial ultrasound findings in pregnancy may not be informative. Only at 21 weeks + 4 days of gestation did an ultrasound reveal fetal microcephaly and ventriculomegaly. Combined clinical, laboratory, and imaging findings provided a complete picture of the severe damage caused by Zika infection.