Assuntos
Cardiomegalia , Síndrome de Dandy-Walker , Retardo do Crescimento Fetal , Derrame Pericárdico , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Ultrassonografia Pré-Natal , Feminino , Humanos , Gravidez , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/diagnóstico por imagem , Cardiomegalia/diagnóstico por imagem , Cardiomegalia/genética , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Reações Falso-Negativas , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/diagnóstico por imagem , Megalencefalia/genética , Teste Pré-Natal não Invasivo/métodos , Derrame Pericárdico/diagnóstico por imagem , Artéria Umbilical Única/diagnóstico por imagem , Triploidia , Ultrassonografia Pré-Natal/métodosRESUMO
Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubated at birth, none required tracheostomy tube and 2 of 5 surviving children had no neurologic deficits. Vermian hypoplasia was strongly associated with genetic conditions and cardiac malformations; odds of not ambulating normally were 12 times greater if a syndrome or injury was present. Echocardiogram and genetic screening are recommended with vermian hypoplasia. There is a risk for epilepsy in both Dandy-Walker malformation and vermian hypoplasia. Blake pouch cyst can be complicated by hydrocephalus, but outcome is favorable.
Assuntos
Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Adolescente , Adulto , Índice de Apgar , Peso ao Nascer , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Tempo de Internação/estatística & dados numéricos , Masculino , Gravidez , Estudos Retrospectivos , Tempo , Adulto JovemRESUMO
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.
Assuntos
Cerebelo/anormalidades , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/patologia , Desenvolvimento Fetal/fisiologia , Feto/patologia , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/patologia , Estudos de Casos e Controles , Cerebelo/embriologia , Cerebelo/patologia , Deficiências do Desenvolvimento/patologia , Humanos , Recém-NascidoRESUMO
OBJECTIVE: To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC). METHODS: The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces. In all cases the final diagnosis was confirmed by prenatal and/or postnatal magnetic resonance imaging or postmortem examination. All pregnancies underwent a detailed ultrasound assessment, including a dedicated examination of the posterior fossa, at 12-13 weeks, 15-16 weeks and 20-21 weeks of gestation. Two-dimensional ultrasound images of the midsagittal and coronal views of the brain through the posterior fontanelle and three-dimensional volume datasets were obtained. Multiplanar orthogonal image correlation with volume contrast imaging was used as the reference visualization mode. Two independent operators, blinded to the fetal outcome, were asked to classify the 4V-CP as visible or not visible in both normal and abnormal cases, and to assess if the 4V-CP was positioned inside or outside the cyst in fetuses with DWM and BPC. RESULTS: Of the 41 fetuses with apparently isolated cystic posterior fossa anomaly in the first trimester, eight were diagnosed with DWM, 29 were diagnosed with BPC and four were found to be normal in the second trimester. The position of the 4V-CP differed between DWM, BPC and normal cases in the first- and second-trimester ultrasound examinations. In particular, in normal fetuses, no cyst was present and, in the midsagittal and coronal planes of the posterior fossa, the 4V-CP appeared as an echogenic oval-shaped structure located inside the 4V apparently attached to the cerebellar vermis. In fetuses with DWM, the 4V-CP was not visible in the midsagittal view because it was displaced inferolaterally by the cyst. In contrast, in the coronal view of the posterior brain, the 4V-CP was visualized in all cases with DWM at 12-13 weeks, with a moderate decrease in the visualization rate at 15-16 weeks (87.5%) and at 20-21 weeks (75%). In the coronal view, the 4V-CP was classified as being outside the cyst in all DWM cases at 12-13 weeks and in 87.5% and 75% of cases at 15-16 and 20-21 weeks, respectively. In fetuses with BPC, the 4V-CP was visualized in all cases in both the midsagittal and coronal views at 12-13 weeks and in 100% and 96.6% of cases, respectively, at 15-16 weeks. In the coronal view, the 4V-CP was classified as being inside the cyst in 28 (96.6%), 27 (93.1%) and 25 (86.2%) cases at 12-13, 15-16 and 20-21 weeks, respectively. The medial segment of the 4V-CP was visualized near the inferior part of the vermis. CONCLUSIONS: Our study shows that longitudinal ultrasound assessment of the 4V-CP and its temporal changes from 12 to 21 weeks is feasible. The 4V-CP is located inside the cyst, just below the vermis, in BPC and outside the cyst, inferolaterally displaced and distant from the vermian margin, in DWM, consistent with the pathogenesis of the two conditions. The position of the 4V-CP is a useful sonographic marker that can help differentiate between DWM and BPC as early as in the first trimester of pregnancy. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Plexo Corióideo/embriologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Quarto Ventrículo/embriologia , Ultrassonografia Pré-Natal/métodos , Cistos do Sistema Nervoso Central/embriologia , Plexo Corióideo/diagnóstico por imagem , Plexo Corióideo/patologia , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/embriologia , Fossa Craniana Posterior/patologia , Síndrome de Dandy-Walker/embriologia , Bases de Dados Factuais , Diagnóstico Diferencial , Diagnóstico Precoce , Estudos de Viabilidade , Feminino , Feto/diagnóstico por imagem , Feto/embriologia , Quarto Ventrículo/diagnóstico por imagem , Quarto Ventrículo/patologia , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Estudos RetrospectivosRESUMO
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.
Assuntos
Anormalidades Múltiplas/genética , Aracnodactilia/genética , Blefarofimose/genética , Doenças do Tecido Conjuntivo/genética , Contratura/genética , Canais Iônicos/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/embriologia , Adulto , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Aracnodactilia/diagnóstico por imagem , Aracnodactilia/embriologia , Blefarofimose/diagnóstico por imagem , Blefarofimose/embriologia , Criança , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/embriologia , Pé Torto Equinovaro/genética , Doenças do Tecido Conjuntivo/diagnóstico por imagem , Doenças do Tecido Conjuntivo/embriologia , Consanguinidade , Contratura/diagnóstico por imagem , Contratura/embriologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/genética , Canais Iônicos/deficiência , Masculino , Linhagem , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Ultrassonografia Pré-NatalRESUMO
Purpose: The aim of this study was to compare volumetric parameters in the abnormal and normal posterior fossa using the Virtual Organ Computer-aided AnaLysis (VOCAL™) technique to determine whether fetuses with an abnormal posterior fossa have different volumes.Methods: A prospective study was conducted on 17 fetuses with an abnormal posterior fossa including, Dandy Walker malformation (DWM) (n = 6), vermian hypoplasia (VH) (n = 3), mega cisterna magna (MCM) (n = 8), and 99 healthy control fetuses from 20 to 34 weeks' gestation. Measurement of the fetal cisterna magna and cerebellar volume was performed in the standard transcerebellar plane through the VOCAL™ method. To establish the correlation of volumes with gestational age, polynomial regression analysis was performed. For comparison between groups, univariate ANCOVA was performed using gestational age as a covariate. The reliability was analyzed by the intraclass correlation coefficient (ICC).Results: Cerebellar volume and cisterna magna volume were correlated with gestational age. Posterior fossa volume was significantly larger in DWM (p < .0001) and MCM (p < .0001) in comparison to the control group. In VH group, cisterna magna volume does not seem to expand (p = .298). Cerebellar volume does not seem to change in subgroups when the influence of gestational age is discarded (p = .09). The ratio of cerebellar volume to the cisterna magna volume decreases significantly in abnormal fetuses (p < .0001). Good intraobserver and interobserver reliabilities were found for both cerebellum and cisterna magna measurements.Conclusions: Volume analysis may have a role in discrimination of different posterior fossa pathologies.
Assuntos
Cerebelo/diagnóstico por imagem , Cisterna Magna/diagnóstico por imagem , Fossa Craniana Posterior/diagnóstico por imagem , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Adulto , Estudos de Casos e Controles , Cerebelo/embriologia , Cisterna Magna/embriologia , Fossa Craniana Posterior/embriologia , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/embriologia , Feminino , Doenças Fetais/diagnóstico , Idade Gestacional , Humanos , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-NatalRESUMO
We present a case report of a foetus with a herniated Dandy-Walker cyst and bilateral rudimentary cervical ribs. The cervical ribs were visualised prenatally by three-dimensional ultrasound and confirmed by post-termination radiography. The prevalence of cervical ribs is higher in deceased fetuses and neonates with or without structural abnormalities compared with healthy individuals and might be regarded as a marker of disadvantageous fetal development. We demonstrate that evaluation of the fetal vertebral pattern by three-dimensional ultrasonography, including the cervical region, is feasible and could provide valuable information regarding fetal and neonatal prognosis.
Assuntos
Costela Cervical/diagnóstico por imagem , Síndrome de Dandy-Walker/diagnóstico , Ultrassonografia Pré-Natal , Aborto Induzido , Costela Cervical/embriologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Gravidez , RupturaRESUMO
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). METHODS: This study involved 77 pregnancies with PFAs who underwent CMA. RESULTS: Chromosomal aberrations including pathogenic CNVs and variants of unknown significance were detected in 31.2% (24/77) of all cases by CMA and in 18.5% (12/65) in fetuses with normal karyotypes. The high detection rate of clinically significant CNVs was evident in fetuses with cerebellar hypoplasia (54.6%, 6/11), vermis hypoplasia (33.3%, 1/3), and Dandy-Walker malformation (25.0%, 3/12). Compare with fetuses without other anomalies, cases with CH and additional malformations had the higher CMA detection rate (33.3% vs 88.9%). Three cases of isolated unilateral CH with intact vermis and normal CMA result had normal outcomes. The deletion of 5p15, 6q terminal deletion, and X chromosome aberrations were the most frequent genetic defects associated with cerebellar hypoplasia. CONCLUSION: Among fetuses with PFA, those with cerebellar hypoplasia, vermis hypoplasia, or Dandy-Walker malformation are at the highest risk of clinically significant CNVs. Chromosomal microarray analysis revealed the most frequent chromosomal aberrations associated with CH.
Assuntos
Cerebelo/anormalidades , Aberrações Cromossômicas , Malformações do Sistema Nervoso/diagnóstico , Diagnóstico Pré-Natal/métodos , Vermis Cerebelar/anormalidades , Cerebelo/embriologia , Variações do Número de Cópias de DNA/genética , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Cariotipagem , Imageamento por Ressonância Magnética , Análise em Microsséries , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/genética , GravidezRESUMO
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM. CONCLUSION: The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition. We report a case involving a 39-year-old pregnant female with a case of trisomy 18 associated with Dandy-Walker malformation (DWM). Fetal ultrasonography showed hypoplasia of the cerebellar vermis and dilatation of the fourth ventricle and was characterized by an enlarged posterior fossa. Fetal magnetic resonance imaging showed inferior vermian hypoplasia and a large posterior fossa cyst communicating with the fourth ventricle causing high insertion of the torcular herophili, which was compatible with DWM. Furthermore, the karyotyping report revealed trisomy 18. The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition.
Assuntos
Síndrome de Dandy-Walker/diagnóstico por imagem , Rim/anormalidades , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomía do Cromossomo 18/diagnóstico por imagem , Adulto , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Feminino , Humanos , Rim/embriologia , Imageamento por Ressonância Magnética/métodos , Gravidez , Síndrome da Trissomía do Cromossomo 18/embriologia , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal/métodosRESUMO
INTRODUCTION: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. MATERIAL AND METHODS: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively. Some were also studied by fetal magnetic resonance imaging (MRI) or volume ultrasound examinations. Fetal sonographic and MRI were compared using following classification: Dandy-Walker malformation (DWM); megacisterna magna (MCM); Blake's pouch cyst; isolated vermian hypoplasia; vermian agenesis; PF arachnoid cyst (AC); and cerebellar hypoplasia (CH). RESULTS: The ultrasound diagnoses of the 69 fetuses were as follows: MCM (n = 29; of these isolated n = 15), DWM (n = 28, isolated n = 4), vermian hypoplasia (n = 5, isolated n = 4), Blake's pouch cyst (n = 4, isolated n = 1), CH (n = 2; none isolated) and AC in the PF (n = 1, isolated). Thirteen of the 41 karyotyped fetuses were aneuploid, including seven with DWM. Associated malformations were found in 37/69 cases. There were 39 live births, including 11 with confirmed DWM, six of whom show a normal development. Twelve infants with isolated MCM show normal development. There were eight false-positive prenatal diagnoses (or resolution until birth) of "enlarged PF": three with Blake's pouch cyst, two with MCM and one with vermian hypoplasia. CONCLUSIONS: An enlarged PF requires specific diagnoses for the best possible counseling. The term "Dandy-Walker variant" should not be used anymore. Isolated MCM and Blake's pouch cyst can either resolve or be normal variants, but may also indicate the presence of a more severe anomaly or associated malformations.
Assuntos
Cistos Aracnóideos/epidemiologia , Fossa Craniana Posterior/diagnóstico por imagem , Síndrome de Dandy-Walker/epidemiologia , Diagnóstico Pré-Natal , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/embriologia , Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/embriologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Imageamento por Ressonância Magnética , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Suíça/epidemiologiaRESUMO
The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies.
Assuntos
Cistos Aracnóideos/congênito , Doenças Cerebelares/congênito , Fossa Craniana Posterior/anormalidades , Síndrome do Hamartoma Múltiplo/congênito , Mesencéfalo/anormalidades , Rombencéfalo/anormalidades , Anormalidades Múltiplas , Cistos Aracnóideos/embriologia , Malformação de Arnold-Chiari/embriologia , Doenças Cerebelares/embriologia , Cerebelo/anormalidades , Fossa Craniana Posterior/embriologia , Síndrome de Dandy-Walker/embriologia , Anormalidades do Olho/embriologia , Síndrome do Hamartoma Múltiplo/embriologia , Humanos , Doenças Renais Císticas/embriologia , Mesencéfalo/embriologia , Retina/anormalidades , Retina/embriologia , Rombencéfalo/embriologia , Síndrome de Walker-Warburg/embriologiaRESUMO
OBJECTIVES: To apply fetal midbrain (MB) and hindbrain (HB) nomograms, developed using three-dimensional multiplanar sonographic reconstruction (3D-MPR) in the mid-sagittal cranial plane, to fetuses with known posterior fossa malformations. METHODS: In this retrospective study we examined sonographic volumes obtained by sagittal acquisition in 43 fetuses diagnosed with posterior fossa abnormalities and evaluated in the mid-sagittal cranial plane, using 3D-MPR, the following: MB parameters tectal length (TL) and anteroposterior midbrain diameter (APMD), and HB parameters anteroposterior pons diameter (APPD), superoinferior vermian diameter (SIVD) and anteroposterior vermian diameter (APVD). Fetuses were grouped, according to malformation, into eight categories: cobblestone malformation complex (CMC, n = 3), Chiari-II malformation (C-II, n = 7), pontocerebellar hypoplasia (PCH, n = 2), rhombencephalosynapsis (RES, n = 4), Dandy-Walker malformation (n = 8), vermian dysgenesis (VD, n = 7), persistent Blake's pouch cyst (n = 6) and megacisterna magna (n = 6). In each case and for each subgroup, the MB-HB biometric parameters and their z-scores were evaluated with reference to our new nomograms. RESULTS: The new MB-HB nomograms were able to identify the brainstem and vermian anomalies and differentiate fetuses with MB-HB malformations from those with isolated enlarged posterior fossa cerebrospinal fluid spaces. Use of the nomograms enabled detection of an elongated tectum in fetuses with CMC, C-II and RES, and a flattened pontine belly in cases of CMC, PCH and VD. In the fetuses with VD, the nomograms enabled division into three distinctive groups: (1) those with small SIVD and APVD, (2) those with normal SIVD but small APVD, and (3) those with small SIVD but normal APVD. CONCLUSIONS: Application of our new reference data, that for the first time include the MB, enables accurate diagnosis of brain malformations affecting the MB and HB and makes possible novel characterization of previously described features of posterior fossa anomalies.
Assuntos
Fossa Craniana Posterior/anormalidades , Mesencéfalo/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Rombencéfalo/anormalidades , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/embriologia , Malformação de Arnold-Chiari/patologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/embriologia , Doenças Cerebelares/patologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/patologia , Humanos , Imageamento Tridimensional , Mesencéfalo/diagnóstico por imagem , Mesencéfalo/embriologia , Nomogramas , Tamanho do Órgão , Estudos Retrospectivos , Rombencéfalo/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodosRESUMO
We report 2 cases in which first-trimester measurements of the intracranial translucency and the brain stem-to-occipital bone diameter were markedly enlarged. This finding was thought to represent an abnormal fourth ventricle-cisterna magna complex. Subsequently, the diagnoses of a Dandy-Walker malformation with partial vermian agenesis in 1 case and inferior vermian hypoplasia in the other were established and confirmed by either postmortem autopsy or postnatal magnetic resonance imaging. These cases suggest that evaluation of the fourth ventricle-cisterna magna complex, by measuring the intracranial translucency or brain stem-to-occipital bone diameter may identify some cases with structural malformations of the cerebellum as early as the first trimester.
Assuntos
Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Ecoencefalografia/métodos , Ultrassonografia Pré-Natal/métodos , Feminino , Humanos , Masculino , Gravidez , Primeiro Trimestre da Gravidez , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. METHODS: Cases of Dandy-Walker malformation, vermian hypogenesis/hypoplasia, and mega cisterna magna (MCM) were identified through the Fetal Care Center of Cincinnati between January 2004 and December 2010. Parental interview and retrospective chart review were used to assess neurodevelopmental outcome. RESULTS: Posterior fossa anomalies were identified in 59 fetuses; 9 with Dandy-Walker malformation, 36 with vermian hypogenesis/hypoplasia, and 14 with MCM. Cases with isolated PFAs (14/59) had better outcomes than those with additional anomalies (p = 0.00016), with isolated cases of MCM all being neurodevelopmentally normal. Cases with additional intracranial anomalies had a worse outcome than those without intracranial anomalies (p = 0.00017). The presence of extracranial anomalies increased the likelihood of having a poor outcome (p = 0.00014) as did the identification of an abnormal brainstem (p = 0.00018). CONCLUSION: Intracranial and extracranial anomalies were good predictors of neurodevelopmental outcome in this study. The prognosis was poor for individuals with an abnormal brainstem, whereas those with isolated MCM had normal neurodevelopmental outcome.
Assuntos
Anormalidades Múltiplas/diagnóstico , Cerebelo/anormalidades , Cisterna Magna/anormalidades , Fossa Craniana Posterior/anormalidades , Síndrome de Dandy-Walker/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal , Anormalidades Múltiplas/diagnóstico por imagem , Adulto , Cisterna Magna/diagnóstico por imagem , Fossa Craniana Posterior/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Feminino , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez , UltrassonografiaRESUMO
OBJECTIVE: To evaluate the role of the brainstem-vermis (BV) and brainstem-tentorium (BT) angles in the differential diagnosis of upward rotation of the fetal cerebellar vermis. METHODS: The BV and BT angles were measured retrospectively on median sonographic views of the brain in 31 fetuses at 19-28 weeks' gestation with upward rotation of the cerebellar vermis due to Blake's pouch cyst (n = 12), Dandy-Walker malformation (n = 12) and cerebellar vermian hypoplasia (n = 7). Eighty normal fetuses at 20-24 weeks were included as controls. RESULTS: In the control group, BV and BT angles were 9.1 ± 3.5° (range, 4-17°) and 29.3 ± 5.8° (range, 21-44°), respectively. The BV angle was significantly increased in each of the three subgroups of anomalies: Blake's pouch cyst (23 ± 2.8°; range, 19-26°), vermian hypoplasia (34.9 ± 5.4°; range, 24-40°) and Dandy-Walker malformation (63.5 ± 17.6°; range, 45-112°), the angle increasing with increasing severity of the condition. The BT angle had a similar pattern but there was overlap among the different groups. CONCLUSION: The BV angle and, to a lesser degree, the BT angle are simple and reproducible measurements that provide valuable additional information for the categorization of upward rotation of the fetal cerebellar vermis. From mid gestation, a BV angle > 45° is strongly suggestive of a Dandy-Walker malformation, while a measurement < 30° favors the diagnosis of a Blake's pouch cyst.
Assuntos
Cistos Aracnóideos/diagnóstico por imagem , Tronco Encefálico/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Fossa Craniana Posterior/diagnóstico por imagem , Síndrome de Dandy-Walker/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Cistos Aracnóideos/embriologia , Tronco Encefálico/anormalidades , Tronco Encefálico/embriologia , Cerebelo/anormalidades , Cerebelo/embriologia , Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/embriologia , Síndrome de Dandy-Walker/embriologia , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Gravidez , Reprodutibilidade dos TestesRESUMO
OBJECTIVES: To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. METHODS: We conducted a MEDLINE search using the terms 'Blake's pouch', with or without 'fourth ventricle' or '4(th) ventricle', with or without 'roof' and identified articles describing normal and/or abnormal development of the PMA, whether or not they were cited in the limited clinical literature on BPC. A description of the normal and abnormal development of BPC was derived by collating these articles. The clinical retrospective study included 19 cases of posterior fossa anomalies with a final diagnosis of BPC seen at our institution. The following variables were assessed: referral indication, gestational age at diagnosis, ultrasound and magnetic resonance imaging (MRI) findings, associated anomalies, natural history and pregnancy and neonatal outcome. A transvaginal three-dimensional (3D) ultrasound examination was performed in all cases and 15 cases underwent MRI. To confirm the diagnosis, postnatal MRI, transfontanellar ultrasound or autopsy were available in all cases. RESULTS: Among the 19 cases reviewed, referral indications were: suspicion of vermian abnormality in 11 (58%) cases and other non-central nervous system anomaly in eight (42%) cases. Sonographically, all cases showed the following three signs: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. On 3D ultrasound, the upper wall of the cyst was clearly visible in 11/19 cases, with choroid plexuses on the superolateral margin of the cyst roof. On follow-up, the BPC had disappeared by 24-26 gestational weeks in six of the 11 cases which did not undergo termination of pregnancy (TOP), and remained unaltered until birth in the other five cases. There were associated anomalies in eight (42%) cases, in five of which this consisted of or included congenital heart disease. Karyotype was available in 14 cases, two of which were abnormal (both trisomy 21). Regarding pregnancy outcome, there were eight (42%) TOPs, two (10%) neonatal deaths and nine (48%) survivors. One neonate, in whom the BPC had disappeared by the time of birth, had obstructive hydrocephaly confirmed. Another neonate was diagnosed with Down syndrome after birth. Excluding the Down syndrome baby, neurodevelopmental outcome was normal at the time of writing in all eight cases. CONCLUSIONS: Based on our analysis of ultrasound features, we propose that for BPC to be diagnosed in a fetus the following three criteria should be fulfilled: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. Furthermore, we found that BPC can undergo delayed fenestration at 24-26 weeks in more than 50% of cases. Finally, it seems that BPC shows a risk of association with extracardiac anomalies (heart defects in particular) and, to a lesser extent, trisomy 21.
Assuntos
Ventrículos Cerebrais/anormalidades , Ventrículos Cerebrais/diagnóstico por imagem , Fossa Craniana Posterior/anormalidades , Fossa Craniana Posterior/diagnóstico por imagem , Cistos/diagnóstico por imagem , Síndrome de Dandy-Walker/diagnóstico por imagem , Ultrassonografia Pré-Natal , Ventrículos Cerebrais/embriologia , Ventrículos Cerebrais/patologia , Fossa Craniana Posterior/embriologia , Fossa Craniana Posterior/patologia , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/patologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Cariótipo , Gravidez , Prognóstico , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate the accuracy of fetal imaging in differentiating between diagnoses involving posterior fossa fluid collections and to investigate the postnatal outcome of affected infants. METHODS: This was a retrospective study of fetuses with posterior fossa fluid collections, carried out between 2001 and 2010 in two referral centers for prenatal diagnosis. All fetuses underwent multiplanar neurosonography. Parents were also offered fetal magnetic resonance imaging (MRI) and karyotyping. Prenatal diagnosis was compared with autopsy or postnatal MRI findings and detailed follow-up was attempted by consultation of medical records and interview with parents and pediatricians. RESULTS: During the study period, 105 fetuses were examined, at a mean gestational age of 24 (range, 17-28) weeks. Sonographic diagnoses (Blake's pouch cyst, n = 32; megacisterna magna, n = 27; Dandy-Walker malformation, n = 26; vermian hypoplasia, n = 17; cerebellar hypoplasia, n = 2; arachnoid cyst, n = 1) were accurate in 88% of the 65 cases in which confirmation was possible. MRI proved more informative than ultrasound in only 1/51 cases. Anatomic anomalies and/or chromosomal aberrations were found in 43% of cases. Blake's pouch cysts and megacisterna magna underwent spontaneous resolution in utero in one third of cases and over 90% of survivors without associated anomalies had normal developmental outcome at 1-5 years. Isolated Dandy-Walker malformation and vermian hypoplasia were associated with normal developmental outcome in only 50% of cases. CONCLUSION: Prenatal neurosonography and MRI are similarly accurate in the categorization of posterior fossa fluid collections from mid gestation. Blake's pouch cyst and megacisterna magna are risk factors for associated anomalies but when isolated have an excellent prognosis, with a high probability of intrauterine resolution and normal intellectual development in almost all cases. Conversely, Dandy-Walker malformation and vermian hypoplasia, even when they appear isolated antenatally, are associated with an abnormal outcome in half of cases.
Assuntos
Cistos Aracnóideos/patologia , Fossa Craniana Posterior/anormalidades , Síndrome de Dandy-Walker/patologia , Cariotipagem/métodos , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Cistos Aracnóideos/embriologia , Autopsia , Fossa Craniana Posterior/embriologia , Síndrome de Dandy-Walker/embriologia , Feminino , Seguimentos , Idade Gestacional , Humanos , Gravidez , Estudos RetrospectivosRESUMO
INTRODUCTION: Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of "Dandy-Walker". METHODS: An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. CONCLUSION: The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a "real" Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.
Assuntos
Síndrome de Dandy-Walker/complicações , Hidrocefalia/etiologia , Fossa Craniana Posterior/patologia , Fossa Craniana Posterior/cirurgia , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/cirurgia , Endoscopia/métodos , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/embriologia , Hidrocefalia/patologia , Imageamento por Ressonância Magnética , Ventriculostomia/métodosRESUMO
Heterozygous deletions encompassing the ZIC1;ZIC4 locus have been identified in a subset of individuals with the common cerebellar birth defect Dandy-Walker malformation (DWM). Deletion of Zic1 and Zic4 in mice produces both cerebellar size and foliation defects similar to human DWM, confirming a requirement for these genes in cerebellar development and providing a model to delineate the developmental basis of this clinically important congenital malformation. Here, we show that reduced cerebellar size in Zic1 and Zic4 mutants results from decreased postnatal granule cell progenitor proliferation. Through genetic and molecular analyses, we show that Zic1 and Zic4 have Shh-dependent function promoting proliferation of granule cell progenitors. Expression of the Shh-downstream genes Ptch1, Gli1 and Mycn was downregulated in Zic1/4 mutants, although Shh production and Purkinje cell gene expression were normal. Reduction of Shh dose on the Zic1(+/-);Zic4(+/-) background also resulted in cerebellar size reductions and gene expression changes comparable with those observed in Zic1(-/-);Zic4(-/-) mice. Zic1 and Zic4 are additionally required to pattern anterior vermis foliation. Zic mutant folial patterning abnormalities correlated with disrupted cerebellar anlage gene expression and Purkinje cell topography during late embryonic stages; however, this phenotype was Shh independent. In Zic1(+/-);Zic4(+/-);Shh(+/-), we observed normal cerebellar anlage patterning and foliation. Furthermore, cerebellar patterning was normal in both Gli2-cko and Smo-cko mutant mice, where all Shh function was removed from the developing cerebellum. Thus, our data demonstrate that Zic1 and Zic4 have both Shh-dependent and -independent roles during cerebellar development and that multiple developmental disruptions underlie Zic1/4-related DWM.
Assuntos
Cerebelo/anormalidades , Cerebelo/embriologia , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Proteínas de Homeodomínio/genética , Fatores de Transcrição/genética , Animais , Animais Recém-Nascidos , Proliferação de Células , Cerebelo/metabolismo , Cerebelo/patologia , Síndrome de Dandy-Walker/metabolismo , Síndrome de Dandy-Walker/patologia , Embrião de Mamíferos , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Proteínas Hedgehog/fisiologia , Proteínas de Homeodomínio/metabolismo , Proteínas de Homeodomínio/fisiologia , Humanos , Camundongos , Camundongos Knockout , Tamanho do Órgão/genética , Gravidez , Fatores de Transcrição/metabolismo , Fatores de Transcrição/fisiologiaRESUMO
Prenatal diagnosis of congenital and acquired cerebellar disorders is possible by the use of ultrasound (US) and magnetic resonance imaging (MRI). Although numerous studies have been conducted in this field, diagnostic uncertainties are still common in daily clinical practice. This review outlines five possible pitfalls in the diagnosis of fetal cerebellar disorders: confusion between different entities describing vermian pathologies (Dandy-Walker variant, vermian hypoplasia and vermian agenesis); premature diagnosis of abnormal vermian formation; difficulties in the ultrasonographic differentiation between the cerebellar hemispheres and the vermis; late development of cerebellar hypoplasia/atrophy and differential diagnosis of unilateral cerebellar findings.