Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

Abstract

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.

Türkiye’nin Trakya Bölgesi’nde Fetal Nazal Kemik Uzunluk, Prenazal Kalınlık ve Korpus Kallozum Ölçümü

“…Neurobehavioral disorders, such as difficulties in emotional, social communication or hyperactivity can appear in later life in pathologies of the CC 23 . In addition, some disabilities such as slow processing speed appear progressively at school-age.…”

Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

“…Most patients with corpus callosum agenesis have intellectual disability, epilepsy, Asperger's syndrome, learning problems, depression, schizophrenia, delusional disorder, conduct disorder, conversion symptoms and other clinical symptoms from asymptomatic forms to mild or severe neurodevelopment disorders, and also syndronic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms [13,26]. Although corpus callosum dysplasia is a relatively rare brain malformation, due to its high nonspeci city, the corpus callosum dysplasia is the result of multiple factors and genes interacting.…”

“…A deleterious homozygous mutation in CDK10 is associated with agenesis of corpus callosum, growth retardation, global developmental delay with absent speech acquisition, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriole, and facial dysmorphism [9].It's reported that de novo mutations in MAST1 cause MCC-CH-CM, a disease characterized by a striking enlargement of the corpus callosum, cerebellar hypoplasia, and cortical malformations [10]. As far as agenesis of corpus callosum genetic etiology is concerned, more than 200 different congenital syndromes have been described so far, often associated with speci c chromosomal rearrangements [11][12][13].…”

Agenesis of the corpus callosum and hepatoblastoma

“…While ACC may occur as an isolated finding, it is more commonly found as a component of a congenital syndrome, as in the two patients presented here. In a cohort of 162 patients with ACC, Romaniello et al found that 69% had a syndromic phenotype; a clinical and/or genetic diagnosis was achieved in 42% of cases (Romaniello et al, ). Similarly, a prior study identified a genetic diagnosis in 32% of patients with ACC (Schell‐Apacik et al, ).…”