Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)

2012 ◽  
Vol 32 (3) ◽  
pp. 277-283 ◽  
Author(s):  
Marie-Laure Moutard ◽  
Virginie Kieffer ◽  
Josué Feingold ◽  
Fanny Lewin ◽  
Jean-Michel Baron ◽  
...  
2021 ◽  
pp. 1-8
Author(s):  
Sara Bernardes da Cunha ◽  
Maria Carolina Carneiro ◽  
Maria Miguel Sa ◽  
Andrea Rodrigues ◽  
Carla Pina

Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term “agenesis of corpus callosum” were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.


Author(s):  
Romina Romaniello ◽  
Filippo Arrigoni ◽  
Patrizia De Salvo ◽  
Maria Clara Bonaglia ◽  
Elena Panzeri ◽  
...  

2020 ◽  
Author(s):  
Jiao Zheng ◽  
Tingting Song ◽  
Jia Li ◽  
Ying Xu ◽  
Pengfei Liu ◽  
...  

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.


2007 ◽  
Vol 22 (2) ◽  
pp. 194-202
Author(s):  
Giuseppe Cinalli ◽  
Paola Peretta ◽  
Pietro Spennato ◽  
Luciano Savarese ◽  
Antonio Varone ◽  
...  

Object Interhemispheric arachnoid cysts are very rare, and they are often associated with complex brain malformations such as corpus callosum agenesis and hydrocephalus. Debate remains concerning the proper management of these lesions. Placement of shunts and microsurgical marsupialization of the cyst are the traditional options. Using endoscopic methods to create areas of communication between the cyst, the ventricular system, and/or the subarachnoid space is an attractive alternative to the use of shunts and microsurgery. Methods Between 2000 and 2005, seven consecutive pediatric patients with interhemispheric arachnoid cysts underwent neuroendoscopic treatment involving cystoventriculostomy in two patients, cystocisternostomy in two, and cystoventriculocisternostomy in three. There were three cases of associated hydrocephalus, six cases of corpus callosum agenesis, and one case of corpus callosum hypogenesis. The follow-up period ranged from 12 to 49 months (mean 31.6 months). Endoscopic procedures were completely successful in all but two patients. In one of the remaining two patients, a repeated endoscopic cystocisternostomy was performed with success because of closure of the previous stoma. In the other, a subcutaneous collection of cerebrospinal fluid (CSF) was managed by insertion of a lumboperitoneal shunt. A subdural collection of CSF developed in three patients; it was treated with insertion of a subduroperitoneal shunt in one patient and managed conservatively in the other two patients, resolving spontaneously without further treatment. Neurodevelopmental evaluation performed in six patients showed normal intelligence (total intelligence quotient [IQ] > 80) in three patients, mild developmental delay (total IQ 50–80) in two, and severe developmental delay (total IQ < 50) in one. Conclusions Endoscopic treatment of interhemispheric cysts can be considered a useful alternative to traditional treatments, even if some complications are to be expected, such as subdural or subcutaneous CSF collections and CSF leaks due to thinness of cerebral mantle and to the often-associated multifactorial hydrocephalus.


1998 ◽  
Vol 18 (3) ◽  
pp. 247-253 ◽  
Author(s):  
Claude d'Ercole ◽  
Nadine Girard ◽  
Ludovic Cravello ◽  
Léon Boubli ◽  
Alain Potier ◽  
...  

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