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We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake's Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.

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OBJECTIVE: To analyze the anatomical changes of the IV ventricle and cisterna magna in the Chiari malformation I (CMI) and basilar invagination (type B). METHODS: This is a controlled study with 161 exams of magnetic resonance imaging (MRI) of adults grouped into control (n = 37), basilar invagination (BI; n = 31), Chiari malformation I (CMI; n = 37), and CMI+BI (n = 56). The MRIs were analyzed using the visualization software Osirix (Pixmeo, Bernex, Geneva, version 3.8.2). The morphometric variables were: distance from the obex to the McRae line; length of the IV ventricle floor; and the area and volume of the cisterna magna. The univariate ANOVA followed by Tukey's post-hoc test was applied to evaluate the difference between the groups. The difference between sexes was evaluated by the t test for each group. RESULTS: Alterations in the cisterna magna and IV ventricle were more evident only in the CMI and CMI+BI groups. For both sexes, the CMI and CMI+BI groups showed: a reduction in the CSF space (P < 0.001), cisterna magna with volume reduction (P < 0.001), low position of the obex (P < 0.001), and IV ventricle more elongated (male P = 0.007 and female P < 0.001). The BI group had no significant change in the analysis by sex. CONCLUSIONS: The CMI (isolated and associated with BI) showed a low obex position and elongation of the IV ventricle due to traction towards the spinal canal. The reduction of cisterna magna volume added to the occupation of the cerebellar tonsils can impact in the cerebrospinal fluid dynamics. The BI when isolated was not related to alterations in the parameters of cerebrospinal fluid spaces studied.

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The objective of this study was to examine the safety of multiple repeated percutaneous punctures of cisterna magna for collecting cerebrospinal fluid (CSF) and preliminarily determine the optimal time interval and volume at each collection. Sixty Wistar rats were randomly assigned to six groups: 10 d-0 μL, 10 d-100 μL (100 μL CSF collected at an interval of 10 days), 10 d-150 μL, 15 d-0 μL, 15 d-100 μL, and 15 d-150 μL. CSF was collected by percutaneous puncture of the cisterna magna at four time-points. Simultaneously, locomotor activity, cisterna magna pressure, and acetylcholine levels in the CSF were monitored. Compared with the 10 d-0 μL group, the escape latency by Morris water maze was significantly prolonged in the 10 d-100 μL and 10 d-150 μL groups (P<0.05). Compared with the 15 d-0 μL group, the indices of 15 d-100 μL and 15 d-150 μL groups had no significant differences. When compared with that at the first training, the exception of the 10 d-150 μL and 15 d-150 μL groups, significant differences in escape latency were found at the 6th attempt (P<0.05). Compared with baseline readings for each group, the cisterna magna pressure in the 10 d-150 μL group began to decrease significantly from the third measurement (P<0.05). The optimal time interval during four CSF collections (100 μL per collection) via cisterna magna percutaneous puncture was determined to be 15 days. The procedure did not significantly affect learning processes, performance, or other related indices.

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Abstract At the beginning of the 20th century, cerebrospinal fluid (CSF) collection and analysis emerged as a promising aid in the diagnosis of diseases of the central nervous system. It was obtained through the established procedure of lumbar puncture, described by Heinrich Quinke in 1891. The search for an alternative way to gather the CSF emerged in animal research, highlighting the cisterna magna as a promising source, with relative safety when performed by someone trained. Described initially and in detail by James Ayer in 1920, the procedure was widely adopted by neurologists and psychiatrists at the time, featuring its multiple advantages and clinical applications. After a period of great procedure use and exponential data collection, its complications and risks relegated the puncture of the cisterna magna as an alternative route that causes fear and fascination in modern Neurology.

Resumo No início do século XX, a coleta e análise do líquido cefalorraquidiano (LCR) despontavam como um promissor auxílio no diagnóstico das doenças do sistema nervoso central. Sua obtenção se dava através do consagrado procedimento de punção lombar, descrito por Heinrich Quinke em 1891. A busca por uma via alternativa na obtenção do LCR ganhou destaque nas pesquisas animais, destacando-se na cisterna magna promissora fonte, com relativa segurança quando executada por alguém treinado. Descrito inicialmente e de maneira pormenorizada por James Ayer em 1920, o procedimento foi amplamente adotado por neurologistas e psiquiatras à época, com destaque para suas múltiplas vantagens e aplicações clínicas. Após um período de grande uso do procedimento e exponencial obtenção de dados, suas complicações e riscos relegaram a punção da cisterna magna como via alternativa que causa medo e fascínio na Neurologia moderna.

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Drugs that lack the ability to cross the blood-brain barrier (BBB) need to be placed directly into the central nervous system. Our laboratory studies the involvement of the glutamatergic system in the aggressiveness of glioma, and some ligands of glutamate receptors cannot permeate the BBB. Here, glioma-implanted rats were treated by a technique that delivers ligands directly into the cerebrospinal fluid by puncture into the cisterna cerebellomedullaris. Rats were anesthetized and fixed in a rodent stereotactic device. The head was gently tilted downwards at an angle that allowed exposure of the cisterna. Injection into the cisterna was done freehand using a gingival needle coupled to a microsyringe. The efficiency of intracisternal injection was demonstrated using a methylene blue solution. This type of injection is adaptable for any rodent model using small volumes of a variety of other drugs, and is an interesting method for neuroscience studies.

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Objetivos: Realizar tablas de referencia a través de estadística no paramétrica para definir en percentiles los rangos de normalidad del diámetro biparietal, la circunferencia cefálica, el atrio ventricular cerebral, la cisterna magna, el cavum septum pellucidum y los ventrículos laterales, según recomendaciones de la International Society of Ultrasound in Obstetrics and Gynecology de evaluación y medida. Métodos: Estudio transversal realizado desde enero 2014 a enero 2016. Se evaluaron 1004 embarazadas normales, en diferentes edades gestacionales, y de manera previamente estandarizada se midieron las estructuras mencionadas. El análisis estadístico se realizó con el software libre PAST 3.04 para la organización de los datos de cada edad gestacional en percentiles. Se presentaron en gráficos tipo nomogramas y en modelo de regresión polinómica de primer orden. Cada gráfico fue evaluado con significancia estadística con P<0,05. Resultados: Las estructuras intracraneales pudieron medirse en su totalidad en 864 casos (86 % de los exámenes). Los diámetros biparietal y las circunferencias cefálica pudieron obtenerse en todos los casos, se observó un crecimiento directamente proporcional a la edad gestacional (P< 0,05). La medida del atrio ventricular resultó estable lo largo del embarazo. Se presentan las medidas de la cisterna magna, del cavum septum pellucidum y de los ventrículos laterales. Conclusiones: Los rangos de normalidad se representaron en tablas para correcto uso clínico y de investigación, no difieren de investigaciones previas realizadas en otros países. Se presentan valores de referencia utilizables en la consulta prenatal, a través de estadística no gaussiana.

Objectives: To carry out reference tables through non-parametric statistics to define in percentile ranges of normality of the biparietal diameter, head circumference, the cerebral ventricular atrium, the cisterna magna, cavum septum pellucidum, and the lateral ventricles, according to the recommendations of the International Society of Ultrasound in Obstetrics and Gynecology of evaluation and measurement. Methods: A cross-sectional study was carried out from January 2014 to January 2016; 1004 normal pregnant women, in different gestational ages, were evaluated, and the mentioned structures, previously standardized, were measured. The statistical analysis was performed with the FOSS PAST 3.04 for the organization of the data at each gestational age, in percentiles. They arose in graphic type nomograms and first-order polynomial regression model. Each graphic was evaluated with statistics significance with P < 0.05. Results: The intracranial structures could be measured entirely in 864 cases (86% of the tests). Biparietal diameter and head circumferences were obtained in all cases; it was observed a directly proportional growth to gestational age (P < 0.05). The measurement of the ventricular Atrium was stable throughout the pregnancy. Measures of the cisterna magna, cavum septum pellucidum and of the lateral ventricles are represented. Conclusions: Normal ranges are represented in tables for correct clinical use and research, the results are not different from previous research conducted in other countries. Usable reference values, in the prenatal consultation, through non-Gaussian statistics are presented.

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Introducción: la malformación de Dandy­Walker es una alteración congénita que compromete el cerebelo y el cuarto ventrículo. Esta condición se caracteriza por agenesia o hipoplasia del vermis cerebeloso, dilatación quística del cuarto ventrículo y alargamiento de la fosa posterior. Aproximadamente el 80% de los pacientes presenta hidrocefalia. La triada característica de la malformación de Dandy-Walker que consiste: agenesia parcial o completa del vermis, dilatación quística del cuarto ventrículo y alargamiento de la fosa posterior. El diagnóstico prenatal es preferible realizarlo luego de las 18 semanas, el postnatal se hace con ultrasonido transfontanelar, resonancia magnética y tomografía axial computarizada. El tratamiento de esta patología está basado en el manejo de la hidrocefalia. 1 Caso: a continuación presentamos un caso clínico de Dandy Walker de la Unidad de Medicina Materno Fetal del Hospital Carlos Andrade Marín de Quito.

Introduction: Dandy-Walker malformation is a rare congenital disease involving the cerebellum and the fourth ventricle. This condition is characterized by agenesia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 80% of patients have hydrocephalus. Dandy-Walker malformation was described by Dandy and Blackfan in 1914. The characteristic triad of Dandy-Walker malformation is consisting of complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa. The prenatal diagnosis of Dandy-Walker malformation is better after 18 weeks of gestation. After birth it is best diagnosed with the help of transfontanelar ultrasound, magnetic resonance imaging, and computerized axial tomography. The treatment for this condition is based in the management of hydrocephalus. 1 Case: below is a case report of Dandy Walker at the Maternal Fetal Medical Unit of the Carlos Andrade Marin Hospital in Quito.

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This study aimed to establish reference values for the length and area of the fetal cisterna magna using the multiplanar mode of 3-dimensional ultrasonography. A cross-sectional study including 224 normal pregnant women between 17 weeks 0 days and 29 weeks 6 days of gestation was carried out. The area and length of the fetal cisterna magna were measured in the axial plane at the level of the cerebellar transverse diameter. Reliability was determined by intraclass correlation coefficient. The mean length and area of the fetal cisterna magna ranged from 0.50 ± 0.10 to 0.79 ± 0.18 cm and 0.95 ± 0.18 to 3.09 ± 0.62 cm(2), respectively. Intraobserver reliability for the length and area (intraclass coefficients: 0.86 and 0.91, respectively) and interobserver reliability (intraclass coefficients: 0.64 and 0.82, respectively) were good. Three-dimensional ultrasonography using the multiplanar mode is a reliable method for the determination of reference values for the length and area of the fetal cisterna magna.

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Objetivo: Determinar intervalos de referência para o volume da cisterna magna fetal por meio do método bidimensional (2D) usando o modo multiplanar da ultrassonografia tridimensional. Materiais e Métodos: Estudo de corte transversal com 224 gestantes normais entre a 17ª e 29ª semanas. O volume foi obtido automaticamente pela multiplicação dos três maiores eixos nos planos axial e sagital pela constante 0,52. Regressão polinomial foi realizada para obter correlação entre o volume 2D da cisterna magna e a idade gestacional, sendo os ajustes realizados pelo coeficiente de determinação (R2). Confiabilidade e concordância foram obtidas pelo coeficiente de correlação intraclasse (CCI) e limites de concordância. Resultados: A média do volume da cisterna magna 2D variou de 0,71 ± 0,19 cm3 para 4,18 ± 0,75 cm3 entre a 17ª e 29ª semanas, respectivamente. Observou-se boa correlação do volume da cisterna magna fetal 2D e a idade gestacional (R2 = 0,67). Observou-se excelente confiabilidade e concordância intraobservador com CCI = 0,89 e limites de concordância 95% (-52,0; 51,8), respectivamente. Observou-se baixa confiabilidade e concordância interobservador com CCI = 0,64 e limites de concordância 95% (-110,1; 84,6), respectivamente. Conclusão: Intervalos de referência para o volume 2D da cisterna magna fetal usando o modo multiplanar da ultrassonografia tridimensional foram determinados e apresentaram excelente confiabilidade e concordância intraobservador. .

Objective: To establish reference intervals for the fetal cisterna magna volume by means of two-dimensional (2D) method using the multiplanar mode of three-dimensional ultrasonography. Materials and Methods: Cross-sectional study with 224 healthy pregnant women between the 17th and 29th gestational weeks. The volume was automatically obtained by multiplying the three major axes in axial and sagittal planes by the constant 0.52. Polynomial regression was utilized to establish the correlation between fetal cisterna magna volume and gestational age, with adjustments by coefficient of determination (R2). Reliability and agreement were obtained by intraclass correlation coefficient (ICC) and limits of agreement, respectively. Results: Mean fetal cisterna volume with the 2D method ranged from 0.71 ± 0.19 cm3 to 4.18 ± 0.75 cm3 at the 17th and 29th weeks, respectively. The authors observed a good correlation between fetal cisterna magna volume and gestational age (R2 = 0.67), excellent intraobserver reliability and agreement with ICC = 0.89 and limits of agreement 95% (-52.0; 51.8), respectively, and low interobserver reliability and agreement with ICC = 0.64 and limits of agreement 95% (-110.1; 84.6), respectively. Conclusion: Reference intervals for fetal cisterna magna volume by means of 2D method using the multiplanar mode of three-dimensional ultrasonography were established and presented excellent intraobserver reliability and agreement. .

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OBJECTIVE: To establish reference intervals for the fetal cisterna magna volume by means of two-dimensional (2D) method using the multiplanar mode of three-dimensional ultrasonography. MATERIALS AND METHODS: Cross-sectional study with 224 healthy pregnant women between the 17th and 29th gestational weeks. The volume was automatically obtained by multiplying the three major axes in axial and sagittal planes by the constant 0.52. Polynomial regression was utilized to establish the correlation between fetal cisterna magna volume and gestational age, with adjustments by coefficient of determination (R(2)). Reliability and agreement were obtained by intraclass correlation coefficient (ICC) and limits of agreement, respectively. RESULTS: Mean fetal cisterna volume with the 2D method ranged from 0.71 ± 0.19 cm(3) to 4.18 ± 0.75 cm(3) at the 17th and 29th weeks, respectively. The authors observed a good correlation between fetal cisterna magna volume and gestational age (R(2) = 0.67), excellent intraobserver reliability and agreement with ICC = 0.89 and limits of agreement 95% (-52.0; 51.8), respectively, and low interobserver reliability and agreement with ICC = 0.64 and limits of agreement 95% (-110.1; 84.6), respectively. CONCLUSION: Reference intervals for fetal cisterna magna volume by means of 2D method using the multiplanar mode of three-dimensional ultrasonography were established and presented excellent intraobserver reliability and agreement.

OBJETIVO: Determinar intervalos de referência para o volume da cisterna magna fetal por meio do método bidimensional (2D) usando o modo multiplanar da ultrassonografia tridimensional. MATERIAIS E MÉTODOS: Estudo de corte transversal com 224 gestantes normais entre a 17ª e 29ª semanas. O volume foi obtido automaticamente pela multiplicação dos três maiores eixos nos planos axial e sagital pela constante 0,52. Regressão polinomial foi realizada para obter correlação entre o volume 2D da cisterna magna e a idade gestacional, sendo os ajustes realizados pelo coeficiente de determinação (R2). Confiabilidade e concordância foram obtidas pelo coeficiente de correlação intraclasse (CCI) e limites de concordância. RESULTADOS: A média do volume da cisterna magna 2D variou de 0,71 ± 0,19 cm3 para 4,18 ± 0,75 cm3 entre a 17ª e 29ª semanas, respectivamente. Observou-se boa correlação do volume da cisterna magna fetal 2D e a idade gestacional (R2 = 0,67). Observou-se excelente confiabilidade e concordância intraobservador com CCI = 0,89 e limites de concordância 95% (-52,0; 51,8), respectivamente. Observou-se baixa confiabilidade e concordância interobservador com CCI = 0,64 e limites de concordância 95% (-110,1; 84,6), respectivamente. CONCLUSÃO: Intervalos de referência para o volume 2D da cisterna magna fetal usando o modo multiplanar da ultrassonografia tridimensional foram determinados e apresentaram excelente confiabilidade e concordância intraobservador.

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La malformación de Dandy–Walker es una alteración congénita que compromete el cerebelo y el cuarto ventrículo. Esta condición se caracteriza por agenesia o hipoplasia del vermis cerebeloso, dilatación quística del cuarto ventrículo y alargamientode la fosa posterior. Aproximadamente, 70-90% de los pacientes presenta hidrocefalia, que se desarrolla, generalmente, en el periodo postnatal. La malformación de Dandy-Walker puede estar asociada con atresia del foramen de Magendie y, posiblemente, del foramen de Luschka. La malformación de Dandy-Walker fue descrita por primera vez por Dandy y Blackfan en 1914. Estudios realizados por D’Agostino en 1963 y Hart et al en 1972 definieron la triada característica de la malformación de Dandy-Walker que consiste en (1) agenesia parcial o completa del vermis; (2) dilatación quística del cuarto ventrículo y (3) alargamiento de la fosa posterior.Esta triada típica se encuentra, generalmente, relacionada con hidrocefalia supratentorial, que debe considerarse más como una complicación que como parte del complejo de la malformación. La incidencia de la malformación de Dandy-Walker es de 1 caso/25 000 – 35 000 nacidos vivos. La malformación de Dandy- Walker es la causa de aproximadamente 1-4% de los casos de hidrocefalia; las tasas de mortalidad por la malformación alcanzan entre un 12-50%; y, asociada con otras malformaciones congénitas, constituye el 83% de la mortalidad postnatal.La malformación de Dandy-Walker ocurre más frecuentemente en mujeres que en hombres; el diagnóstico se hace con ultrasonido, resonancia magnética y Tomografía axial computarizada. El tratamiento de esta patología está basado en el manejo de la hidrocefalia.

Dandy-Walker malformation is a rare congenital disease involving the cerebellum and the fourth ventricle. This condition is characterized by agenesia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 70-90% of patients have hydrocephalus, which often develops postnatally. Dandy-Walker malformation may also be associated to atresia of Magendie’s foramen and, possibly, Luschka’s foramen.Dandy-Walker malformation was described by Dandy and Blackfan in 1914. Then, studies by D’Agostino in 1963 and Hart et al in 1972 defined the characteristic triad of Dandy-Walker malformation as consisting of (1) complete or partial agenesis of thevermis, (2) cystic dilatation of the fourth ventricle and, (3) an enlarged posterior fossa. This triad is typically found in association with supratentorial hydrocephalus, which should be considered a complication rather than part of the malformation complex. The incidence of Dandy-Walker malformation is 1 case/25 000-35 000 live births. Dandy-Walker malformation accounts for approximately 1-4% of hydrocephalus cases. Overall mortality rates of 12-50%, associated congenital anomalies contributed to 83% of postnatal deaths. Dandy-Walker malformation occurs more frequently in females than in males. Dandy-Walkermalformation is best diagnosed with the help of ultrasound, magnetic resonance imaging, and computerized axial tomography. The treatment for this condition is based in the management of hydrocephalus.

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Esta patologia es una rara malformación cerebral congénita de fosa posterior. Los pacientes que la padecen, presentan retraso en el desarollo, agrandamiento de circunferencia de cabeza con síntomas y signos de hidrocefalia. La triada característica es: ausencia o hipoplasia del vermis de cerewbelo, agrandamiento de fosa posterior con elevación de senos transversos y dilatación del cuarto ventrículo. La hidrocefalia está considerada como complicación de esta compleja malformación. Casi siempre se observa en el período perinatal o en la infancia temprana. Reportamos el caso de presentación infrecuente en paciente de 51 años, y hacemos aproximación de características clínicas, evaluaciones y hallazgos patológicos de proceso

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A 29-year-old woman with acute lancinating headache, throbbed nuchal pain and subacute paraparesis underwent brain MRI in supine position that depicted: the absence of the cisterna magna, filled by non herniated cerebellar tonsils and compression of the brain stem and cisternae of the posterior fossa, which are aspects of the impacted cisterna magna without syringomyelia and without hydrocephalus. During eight days, pain was constant and resistant to drug treatment. Osteodural-neural decompression of the posterior fossa, performed with the patient in sitting position, revealed: compression of the brainstem, fourth ventricle and foramen of Magendie by herniated cerebellar tonsils, which were aspirated. Immediately after surgery, the headache and nuchal pain remmited. MRI depicted the large created cisterna magna and also that the cerebellar tonsils did not compress the fourth ventricle, the foramen of Magendie and the brainstem, besides the enlargement of posterior fossa cisternae. Four months after surgery, headache, nuchal pain and paraparesis had disappeared but hyperactive patellar and Achilles reflexes remained.

Uma paciente de 29 anos de idade com quadro agudo de cefaléia lancinante, dor terebrante na nuca e paraparesia subaguda foi submetida a RM do encéfalo, em posição supina, que revelou: ausência da cisterna magna, preenchida por tonsilas cerebelares não herniadas e compressão do tronco encefálico e das cisternas da fossa posterior, compatíveis com o diagnóstico de cisterna magna impactada sem siringomielia e sem hidrocefalia. Por oito dias a dor foi constante e resistente aos analgésicos. Com a paciente em posição sentada, foi realizada descompressão osteodural-neural da fossa posterior associada a aspiração das tonsilas cerebelares. Os achados perioperatórios foram caracterizados por herniação das tonsilas cerebelares que comprimiam o tronco cerebral, o quarto ventrículo e o forame de Magendie. No pós-operatório imediato houve remissão da cefaléia e da dor na nuca. A RM evidenciou a cisterna magna recém-criada, alargamento do quarto ventrículo e das cisternas do tronco encefálico. Quatro meses depois, a paciente continuava sem cefaléia, sem dor na nuca e sem paraparesia. Entretanto, permaneceu a hiperatividade dos reflexos patelares e aquileus.

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