ABSTRACT
Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.
Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.
Subject(s)
Humans , Male , Female , Pregnancy , Cysts/diagnostic imaging , Agenesis of Corpus Callosum/diagnostic imaging , Retrospective Studies , Ultrasonography, Prenatal , Aicardi SyndromeABSTRACT
Abstract Fetal growth restriction (FGR) occurswhen the fetus does not reach its intrauterine potential for growth and development as a result of compromise in placental function. It is a condition that affects 5 to 10% of pregnancies and is the second most common cause of perinatal morbidity and mortality. Children born with FGR are at risk of impaired neurological and cognitive development and cardiovascular or endocrine diseases in adulthood. The purpose of the present revision is to perform a literature search for evidence on the detection and assessment by ultrasound of brain injury linked to FGR during fetal life. Using a systematic approach and quantitative evaluation as study methodology, we reviewed ultrasound studies of the fetal brain structure of growth-restricted fetuses with objective quality measures. A total of eight studies were identified. High quality studies were identified for measurement of brain volumes; corpus callosum; brain fissure depth measurements, and cavum septi pellucidi width measurement. A low-quality study was available for transverse cerebellar diameter measurement in FGR. Further prospective randomized studies are needed to understand the changes that occur in the brain of fetuseswith restricted growth, as well as their correlation with the changes in cognitive development observed.
Resumo A restrição do crescimento fetal (RCF) ocorre quando umfeto não consegue atingir seu potencial de crescimento intrauterino, na maioria das vezes por compromisso da função placentária. É uma condição que afeta de 5 a 10% das gravidezes e é a segunda causa mais comum de morbidade e mortalidade perinatal. Crianças nascidas com RCF incorrem em maior risco de atraso no desenvolvimento neurológico e cognitivo, bem como de doenças cardiovasculares e/ou endócrinas, na idade adulta. O objetivo desta revisão foi o de pesquisar na literatura evidência sobre o diagnóstico pré-natal por ecografia de lesões cerebrais relacionadas com a RCF. Utilizando uma abordagem sistemática, avaliamos de forma quantitativa a metodologia dos oito estudos que preencheram os critérios de inclusão e foram, assim, incluídos nesta revisão. Foram identificados estudos de alta qualidade para a medição dos volumes cerebrais;medição do corpo caloso; medição da profundidade das incisuras cerebrais emedição do cavum do septo pelúcido. Os autores identificaram um estudo de qualidade inferior sobre a medição transversal do diâmetro transcerebelar em fetos com RCF. Mais estudos prospectivos randomizados são necessários para perceber quais as alterações que ocorrem no cerébro dos fetos com restrição do seu crescimento, bem como, a sua correlação com as alterações do desenvolvimento cognitivo observadas.
Subject(s)
Humans , Female , Pregnancy , Child , Adult , Placenta , Ultrasonography, Prenatal , Brain/diagnostic imaging , Biometry , Gestational Age , Fetal Growth Retardation/diagnostic imaging , FetusABSTRACT
La agenesia de cuerpo calloso (ACC) es una anomalía del sistema nervioso central fetal de pronóstico variable, cuyo diagnóstico prenatal es difícil debido a las limitaciones de la ultrasonografía convencional, tales como la dificultad para su visualización directa y la obtención de planos adecuados. La sospecha diagnóstica se apoya en hallazgos indirectos y debe ser confirmada con la neurosonografía. La evaluación 3D ofrece ventajas en el examen del cerebro fetal; la obtención de volumen permite generar planos a demanda que optimizan el estudio neurosonográfico. Se presenta un caso de diagnóstico prenatal de un feto con ACC mediante neurosonografía volumétrica 3D y su rol como nueva alternativa para la evaluación de anomalías de la línea media.
Agenesis of corpus callosum (ACC) is a central nervous system fetal anomaly of variable outcome; prenatal diagnosis is difficult due to the limitations of conventional ultrasound such as difficult visualization of the corpus callosum and obtaining adequate planes. Diagnosis is suspected on indirect signs and must be confirmed by neurosonography. 3D evaluation offers some advantages in fetal brain examination; the volume obtained allows generation of multiple planes that optimize the neurosonography study. We present a case of prenatal diagnosis of a fetus with ACC performed by 3D volumetric neurosonography and its role as new alternative for midline brain anomalies evaluation.
ABSTRACT
Diagnosis of anomalies of the corpus callosum (complete agenesis, partial agenesis and hypoplasia) demands a direct visualization to this structure. Indirect signs of complete agenesis can be detected in axial sections, usually performed for screening. However, subtle abnormalities such as partial agenesis or hypoplasia require transfontanelar views. The transfrontal view is a simple access to incorporate, when evaluating the fetal profile. The metopic suture is a window to fetal midline brain structures, providing a direct access to the corpus callosum and other medial structures. Transvaginal neurosonographic examination is need when an abnormality is suspected during routine examination.
El diagnóstico de anomalías del cuerpo calloso (agenesia completa o parcial e hipoplasia) requieren de la visión directa de esta estructura. La agenesia completa se asocia a signos indirectos posibles de visualizar en los planos axiales convencionales de pesquisa. Sin embargo, lesiones más sutiles como agenesia parcial e hipoplasia no siempre se asocian a signos que permitan alertar al ecografista, durante el examen rutinario. La visión transfrontal es un plano de visión simple de incorporar, cuando se está habituado a evaluar el perfil fetal. Este acceso permite una visión directa del cuerpo calloso y de otras estructuras mediales, acceso posible de obtener más de 2/3 de las veces. Los hallazgos sugerentes de anormalidad obligan a considerar efectuar una neurosonografía multiplanar endovaginal.