Associated anomalies in cases with agenesis of the corpus callosum

Abstract

Agenesis of corpus callosum (ACC) is an uncommon congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with ACC often have other non-ACC associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population.The associated anomalies in cases with ACC were collected in all live births, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 99 cases with ACC, representing a prevalence of 2.56 per 10,000, 73 (73.7%) had associated anomalies. There were 16 (16.2%) cases with chromosomal abnormalities, and 13 (13.2%) nonchromosomal recognized dysmorphic conditions including syndromes two each: Aicardi, Dandy-Walker, and fetal alcoholism. Forty-four (44.4%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the musculoskeletal, the urogenital, the central nervous, the cardiovascular, and the digestive systems were the most common other anomalies in the cases with MCA.The anomalies associated with ACC could be classified into a recognizable malformation syndrome in 29 out of the 73 cases (39.7%) with associated anomalies. This study included special strengths: it is population-based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, three of four cases, emphasizes the need for a screening for other anomalies in cases with ACC. K E Y W O R D Sagenesis of corpus callosum, brain malformations, central nervous system anomalies, congenital anomalies, multiple congenital anomalies

An Adult With Agenesis of Splenium of Corpus Callosum: A Case Report

“…Seizure is the first clinical manifestation in up to two third of corpus callosum malformation. A patient with agenesis of the corpus callosum may have been admitted with other congenital abnormalities like ventricular septal defect, renal agenesis, and neurological disorders before the possibility of ACC is raised [ 7 ]. Many studies have reported higher risk of recurrent in children with congenital defects as compared to idiopathic causes and non-morphological defects [ 8 , 9 ].…”

“…Patient with early presentation of seizure also has higher chance of conversion to epilepsy after experiencing at least two seizures within 24 hours. Also, studies have reported three times higher risk of death in comparison to those without epilepsy [ 7 ].…”

Diagnostic Profile of Corpus Callosum Anomalies at a Tertiary Center: A Retrospective Cross-sectional Study

“…Consistent with the literature, trisomy 18 and trisomy 13 were the most common chromosomal anomalies in our cases with available karyotype. 26,27 de Wit et al stated that in fetuses with isolated complete ACC on US examination and without causal abnormalities on single nucleotide polymorphism (SNP) array, MRI and physical evaluation of the infant exposed additional physical abnormalities. They concluded that microarray should be recommended in cases of isolated ACC on US scan.…”

Scoping Review of the Prenatal Diagnosis of Agenesis of the Corpus Callosum

“…Beyond the blurred understanding of the other common neuroanatomical differences within fetuses with ACC, authors explored many other intracranial and extracranial anomalies. Stoll et al (2019) found that 73/99 (73.3%) prenatally diagnosed cases of ACC from a population-based registry also had associated anomalies, with the most common being chromosomal conditions, other CNS anomalies, musculoskeletal and congenital heart anomalies. The retrospective records obtained between 1979 and 2007, created a potential bias towards the identification of complex presentations of ACC.…”

“…The prevalence rose to 3.3 in 10,000, when calculated from 1996, the time when records of terminations began to be collected. Stoll et al, (2019) calculated the prevalence of ACC within and around Strasbourg, France, to be 2.56 per 10,000, drawing from 387,067 consecutive pregnancies through their 11 hospital network. Szabo et al (2011) sent questionaries to pediatricians in the south-eastern region of Hungary for a retrospective survey of children born with ACC from records between 1992 and 2006.…”