OC15.02: Neurodevelopmental outcome in truly isolated fetal agenesis of corpus callosum

2014 ◽  
Vol 44 (S1) ◽  
pp. 35-35
Author(s):  
G. Pagani ◽  
V. Gerosa ◽  
F. D'Antonio ◽  
M. Gregorini ◽  
P. Accorsi ◽  
...  
2006 ◽  
Vol 48 (3) ◽  
pp. 298-304 ◽  
Author(s):  
PISANI FRANCESCO ◽  
BIANCHI MARIA-EDGARDA ◽  
PIANTELLI GIOVANNI ◽  
GRAMELLINI DANDOLO ◽  
BEVILACQUA GIULIO

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.


2021 ◽  
Vol 7 (2) ◽  
pp. 97-101
Author(s):  
Jafar Nasiri ◽  
◽  
Maryam Sedghi ◽  
Mohammad Hossein Hemat ◽  
◽  
...  

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.


2017 ◽  
Vol 60 (1) ◽  
pp. 8 ◽  
Author(s):  
Sung Eun Kim ◽  
Hye-In Jang ◽  
Kylie Hae-jin Chang ◽  
Ji-Hee Sung ◽  
Jiwon Lee ◽  
...  

2021 ◽  
Vol 16 (8) ◽  
pp. 2211-2213
Author(s):  
Prajina Pradhan ◽  
Subash Phuyal ◽  
Ritesh Lamsal ◽  
Pooja Agrawal ◽  
Raju Paudel

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.


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