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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
Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.
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RESUMEN La plasticidad neuronal representa la facultad del cerebro para recuperarse y reestructurarse, esto le permite reponerse a trastornos o lesiones y reducir los efectos de alteraciones estructurales ya sean congénitas o adquiridas. La agenesia del cuerpo calloso es una malformación del sistema nervioso central que se produce por falta del desarrollo o del entrecruzamiento de los axones provenientes de la corteza cerebral, lo que puede asociarse a otras malformaciones o ser producto de lesiones destructivas con atrofia. Desde el punto de vista clínico son frecuentes las afectaciones neurológicas como retraso psicomotor, del aprendizaje, trastornos motores, visuoespaciales y convulsiones. Se presenta el caso de un paciente de sexo masculino, que inició con epilepsia a los 17 años con hallazgo en resonancia magnética de agenesia total del cuerpo calloso y paquigiria, con desarrollo psicomotor y cognitivo normal y evolución clínica favorable. La neuroplasticidad como mecanismo fisiológico adaptativo permitió se establecieran alternativas de comunicación interhemisférica y por consiguiente manifestaciones clínicas poco floridas y buena evolución de la epilepsia, conservando estado neurocognitivo normal. Se presenta este reporte con el objetivo de describir la forma clínica inhabitual de la agenesia del cuerpo calloso asociado a epilepsia y la participación del mecanismo de plasticidad neuronal en esta forma oligosintomática, en un adolescente.
ABSTRACT Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is a malformation of the central nervous system that occurs due to lack of development or crossing of axons from the cerebral cortex, which can be associated with other malformations or be the product of destructive lesions with atrophy. From a clinical point of view, neurological disorders such as psychomotor retardation, learning, motor, visual-spatial disorders and seizures are frequent. The case of a male patient, who began with epilepsy at 17 years of age, with a magnetic resonance imaging finding of total agenesis of the corpus callosum and pachygyria, with normal psychomotor and cognitive development and favorable clinical evolution. Neuroplasticity as an adaptive physiological mechanism allowed the establishment of interhemispheric communication alternatives and consequently little flowery clinical manifestations and a good evolution of epilepsy, maintaining a normal neurocognitive state is presented. The objective of this research is to describe the unusual clinical form of agenesis of the corpus callosum associated with epilepsy and the participation of the neuronal plasticity mechanism in this oligosymptomatic form, in an adolescent.
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Objective: To evaluate fetal corpus callosum and associated malformations with MRI. Methods: Totally 81 fetuses with MRI diagnosed corpus callosum agenesis were collected, and the types and of corpus callosum agenesis and other brain malformations were analyzed. Results: Among 81 fetuses, simple absence of corpus callosum were diagnosed in 47 fetuses, while complicated malformations were detected in 34 fetuses, including 12 with arachnoid cyst, 7 with Dandy-Walker syndrome, 5 with cerebellar hypoplasia, 5 with neuronal migration disorder,4 with cisterna magna, 4 with subependymal cyst, 2 with parenchymal hemorrhage, 1 with schizencephaly, 1 with porencephaly and 1 with meningocele. Conclusion: MRI can display fetal corpus callosum and associated brain malformations, which is able to provide information for evaluation on prognosis.
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Las alteraciones del cuerpo calloso tienen una prevalencia en general de 1 por 1.000 nacidos vivos, estas alteraciones se encuentran en un 2-3 % de los niños con discapacidad o alteraciones del neurodesarrollo. Dentro de estos trastornos se incluyen la agenesia, la disgenesia, la hipoplasia y la hiperplasia. Debido a que estas alteraciones se asocian en un gran porcentaje con diferentes anomalías cerebrales y síndromes es relevante realizar un adecuado abordaje diagnóstico prenatal. Existen varios signos clave en la ecografía prenatal que permiten determinar si existe alguna alteración en el cuerpo calloso. La resonancia magnética se indica en casos de sospecha de alguna alteración en la ecografía prenatal y permite evaluar de manera más específica si existe alguna anomalía cerebral adicional. Esto es importante para determinar el pronóstico neurológico y realizar intervenciones oportunas.
Alterations of the corpus callosum have a general prevalence of 1/1,000 live births, and are found in 2-3% of children with developmental disabilities. These disabilities include agenesis, dysgenesis, hypoplasia and hyperplasia. Because these alterations are associated in a large percentage to different brain anomalies and syndromes, it is relevant to perform an adequate prenatal diagnostic approach. There are several key signs in the prenatal ultrasound that determine if there is any alteration in the corpus callosum. Magnetic resonance is indicated in cases of suspected anomalies in the prenatal ultrasound, and it can also evaluate more specifically if an additional cerebral anomaly is present. This is important because it allows to determine the neurological prognosis and to perform promptly interventions.
Subject(s)
Humans , Corpus Callosum , Agenesis of Corpus Callosum , Prenatal Diagnosis , Magnetic Resonance SpectroscopyABSTRACT
Resumen El cuerpo calloso está presente sólo en mamíferos placentarios y se compone de aproximadamente 200 a 800 millones de axones que conectan ambos hemisferios cerebrales. La disgenesia del cuerpo calloso puede ser completa (agenesia del cuerpo calloso) o parcial (hipoplasia del cuerpo). La agenesia del cuerpo calloso es una malformación que puede ocurrir de forma aislada o en asociación con otras alteraciones sistémicas o del sistema nervioso central y es una de las malformaciones más frecuentes en el cerebro, con una prevalencia estimada de 1 en 4 000 nacidos vivos. Entre los hallazgos clínicos más frecuentes se encuentran retraso mental, problemas visuales y convulsiones. El diagnóstico prenatal puede realizarse mediante ecografía y resonancia magnética a partir de la semana 20 de gestación. El diagnóstico posnatal puede hacerse mediante ecografía, tomografía computarizada y resonancia magnética. Actualmente, no existe un tratamiento específico, aunque se ha propuesto iniciar un programa de estimulación precoz y de ser posible un programa de rehabilitación psicomotriz que ofrezca mejoría de los trastornos motores y del aprendizaje. Es posible la realización de cirugía cuando existen malformaciones asociadas que sean potencialmente corregidas y, si existen convulsiones, deben manejarse farmacológicamente.
Abstract Corpus callosum is present only in placental mammals and is composed by approximately 200 - 800 million axons that connect left and right hemispheres. Dysgenesis of corpus callosum may be complete, known as agenesis of the corpus callosum, or partial, known as hypoplasia of the Corpus. Agenesis of the corpus callosum is a malformation that may occur in an isolated way or in association with other disorders of central nervous system. It is one of the most frequent malformations in cerebrum with an estimated prevalence of 1/ 4000 000 births. Among the most frequent clinical findings in patients with agenesis of the Corpus Callosum are mental retardation, visual impairment and seizures. Prenatal diagnosis may be performed through ultrasound and magnetic resonance from week 20 of pregnancy. Postnatal diagnosis may be carried out by performing ultrasound, computerized tomography or magnetic resonance. Currently, there is no specific treatment for ACC. An early stimulation program has been proposed and, if possible, a psychomotor rehabilitation program that offers improvement of motor and learning disorders. Surgical choice is contemplated only for management of associated malformations susceptible of being corrected; symptomatic treatment must be carried out when there are convulsive syndromes.
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OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center. RESULTS: Fifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes. CONCLUSION: Similar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling.
Subject(s)
Humans , Infant, Newborn , Agenesis of Corpus Callosum , Corpus Callosum , Counseling , Fetus , Korea , Lost to Follow-Up , Obstetrics , Prenatal Diagnosis , Retrospective Studies , UltrasonographyABSTRACT
Objective To discuss the value of prenatal ultrasound and MRI in diagnosis of fetal agenesis of corpus callosum (ACC). Methods Sixty-seven fetuses from Hubei Maternal and Children's Hospital performed fetal MRI from July 2013 to December 2014 were included in this study. All fetuses (67 cases) with suspected ACC were studied with a 1.5T MR unit within 3 days after ultrasound examination. Prenatal ultrasound and MRI findings were studied. Results All the 67 ACCs previously suspected on ultrasound were confirmed by MRI. Among the 67 ACCs, 58 cases were complete ACC and 9 cases were partial ACC. Corpus callosum body and/or splenium absence was found in all 9 partial ACC cases. In all cases, on MRI, corpus callosum complete or partial absence was showed on the median sagittal images, and mild to moderate ventriculomegaly and abnormal morphology in lateral ventricle was shown on the axial or coronary images. Conclusions MRI has high value in diagnosis of ACC. When ACC is found or suspected by ultrasonophy, MRI examination is suggested to confirm the diagnosis.
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ObjectiveTo evaluate the accuracy and value of the ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of agenesis of the corpus callosum in the newborns.MethodsConventional cerebral ultrasound screening was performed in 8086 newborns admitted to NICU in our hospital from January 2012 to June 2014 and agenesis of the corpus callosum was suspected or conifrmed in 31 newborns. The diagnostic accuracy of ultrasonography was assessed through the com-parison between the results of ultrasonography and MRI.ResultsIn 31 cases with suspected agenesis of the corpus callosum, ultrasonography showed 14 cases of complete agenesis of which 13 cases had the same diagnosis with MRI except one case of partial agenesis, meanwhile, ultrasonography showed 16 cases of partial agenesis of which 15 cases had the same diagnosis with MRI except one case of complete agenesis. One case of abnormal corpus callosum determined by ultrasonography was diagnosed as partial agenesis by MRI. MRI showed there were other brain malformations in 14 cases.ConclusionsUltrasonography and MRI has a high consistency in the diagnosis of agenesis of the corpus callosum in neonates, so the former can be used as a routine screening and the latter can be used as a method of accurate diagnosis. A combination of both has an important role in early diag-nosis and clinical evaluation.
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OBJECTIVE: To report the clinical characteristics of the fetuses with agenesis of corpus callosum (ACC) diagnosed by prenatal ultrasonography. METHODS: Between 1998 and 2007, total twenty-two cases of ACC were identified. All cases were diagnosed by the direct evaluation of the corpus callosum using the ultrasonograpy with or without 3D multi-slice technique and color Doppler. Postnatal work-up was done by MRI or autopsy. RESULTS: The median gestational week was 26 weeks (19 to 34 weeks). The most common abnormal ultrasonographic finding was ventriculomegaly, shown in 19 (86.3%) of 22 cases. Absent cavum septum pellucidum and dilated upward displacement of third ventricle were also shown in 18 (81.8%) and 15 (68.2%) of 22 cases, respectively. Postnatal work-up performed in 9 cases (4 live-born babies and 5 still births) additionally confirmed the associated anomalies in three cases including a heart defect, an Aicardi syndrome, and trisomy 18. CONCLUSION: The analysis of 22 cases presented in this report provides the precise materials to understand ACC. Targeted ultrasonographic evaluation may be helpful for prenatal diagnosis of ACC but has the limitation in differentiation of an isolated ACC from complex defect. To solve this limitation, therefore, the meticulous prenatal work-up and counseling would be needed.
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Agenesis of Corpus Callosum , Aicardi Syndrome , Corpus Callosum , Counseling , Displacement, Psychological , Fetus , Heart , Prenatal Diagnosis , Septum Pellucidum , Third Ventricle , TrisomyABSTRACT
Agenesis of corpus callosum is the cerebral malformations whose prognosis is uncertain. But the complete agenesis shows more poor prognosis than partial agenesis. So, the type of agenesis can affect significantly the antepartum management. Recently, there has been a development in diagnostic tools like MRI to overcome these limitations of antenatal ultrasonography. We report a case of agenesis of corpus callosum which was diagnosed by prenatal MRI. This case was confused with Dandy-Walker complex in prenatal ultrasonography and supported in diagnosis by prental MRI.
Subject(s)
Agenesis of Corpus Callosum , Dandy-Walker Syndrome , Diagnosis , Magnetic Resonance Imaging , Prognosis , Ultrasonography , Ultrasonography, PrenatalABSTRACT
The corpus callosum is the main interhemispheric connection in human brain. Agenesis of corpus callosum may partial or complete, and it may have not functional abnormalities. Its prenatal sonographic diagnosis is difficult because of fetal head position, especially in a cephalic presentation. We experienced a case of complete agenesis of corpus callosum. The prenatal sonographic findings was disproportionate dilatation of lateral ventricle, which were suggestive finding of agenesis of corpus callosum or hydrocephalus. We could confirm the diagnosis of complete agenesis of corpus callosum by postnatal MRI.
Subject(s)
Humans , Agenesis of Corpus Callosum , Brain , Corpus Callosum , Diagnosis , Dilatation , Head , Hydrocephalus , Lateral Ventricles , Magnetic Resonance Imaging , UltrasonographyABSTRACT
Objective To explore the value of MRI in detecting the corpus callosum agenesis suspected by US.Methods 19 women with complicated pregnancies,aged from 20 to 37 years(average 28 years) and with gestation from 20 to 38weeks(average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 hours after ultrasound examinations and suspected with fetal corpus callosum agenesis.T2WI and T1WI were performed using HASTE and FLASH,respectively.The features of MRI and ultrasound were compared with that of autopsy or follow-up outcome.Results Of the 19 fetus,14 cases with fetal corpus callosum,3 cases with mild enlargement of lateral cerebral ventricle and 2 cases with leukodystrophy were confirmed by MRI.Of them,accompained with Dandy-Walker syndrome in one and lipoma of corpus callosum in one.One case of Dandy-Walker syndrome and microcephalus respectively missed by US was detected by MRI.Conclusion MRI is superior in displaying fetal corpus callosum agenesis than ultrasound,which is helpful in conforming the diagnosis of fetal corpus callosum,classification and additional cerebral anomalies.
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Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and 15th gestational week and in doing so form the six-layered neocortex. When the migration does not occur in a normal fashion the resultant brain anomalies include lissencephaly, pachygyria, schizencephaly, hemimegalencephaly, heterotopia, and polymicrogyria. Neuronal heterotopia is a collection of nerve cells in abnormal locations as a result of arrest of their radial migration, improper formation, or destruction of the radial glial fiber. We reported a case of neuronal heterotopia with brief review of related literatures.