Corpus Callosum Anomalies: Birth Prevalence and Clinical Spectrum in Hungary

Abstract

Data regarding the epidemiology of callosal anomalies are contradictory. We performed a population-based retrospective survey to study the birth prevalence and clinical features of agenesis/hypoplasia of the corpus callosum and accompanying central nervous system and somatic abnormalities in southeastern Hungary between July 1, 1992 and June 30, 2006. Among 185,486 live births, 38 patients (26 boys and 12 girls) manifested agenesis/hypoplasia of the corpus callosum, corresponding to a prevalence of 2.05 per 10,000 live births (95% confidence interval, 1.4-2.7). Callosal anomalies were isolated in 18 patients, and were associated with other central nervous system malformations in five children. Both central nervous system and noncentral nervous system abnormalities were evident in seven patients, whereas callosal dysgenesis was accompanied only by somatic anomalies in eight children. Five of 18 patients with isolated agenesis/hypoplasia of the corpus callosum remained asymptomatic. Developmental delay, intellectual disability, or epilepsy occurred in all patients, except one, when callosal anomalies were combined with other brain or somatic abnormalities. Five patients with multiplex malformations died. Callosal anomalies form a clinically significant and relatively frequent group of central nervous system malformations.

Effect of antenatal growth and prematurity on brain white matter: diffusion tensor study

“…It is noteworthy that lesions in the corpus callosum have been reported to cause a wide range of impairments, such as delays in motor development and cognitive problems. One possible explanation is that the maturation of the corpus callosum in SGA children might be particularly vulnerable to the adverse factors that cause impaired growth [27]. Intrauterine growth restriction affects 3-10% of all pregnancies [28] and can lead to infants being born SGA.…”

Clinical Features and Associated Abnormalities in Children and Adolescents With Corpus Callosal Anomalies

“…The diagnosis of corpus callosal anomaly was established by MRI, and expert radiologists reviewed the images. We excluded patients with extensive CNS anomalies (e.g., lissencephaly, holoprosencephaly, or bilateral schizencephaly), because the corpus callosal anomaly can be secondary to these CNS anomalies [1]. For the same reason, preterm infants with a thin corpus callosum accompanied by periventricular leukomalacia were also excluded.…”

“…The corpus callosum is the largest interhemispheric connective structure in the brain [1]. Anomalies of the corpus callosum are observed in a variety of conditions that disrupt early cerebral development, including chromosomal and metabolic disorders, as well as intrauterine exposure to teratogens and infection [2].…”

“…Callosal anomalies are often accompanied by other central nervous system (CNS) and/or somatic anomalies [4]. Szabo et al [1] studied the birth prevalence and clinical spectrum of corpus callosal anomaly patients in Hungary. Glass et al [2] researched the prevalence and demographic risk factors of callosal anomaly in patients over 20 years in California.…”

Brain Commissural Anomalies

“…The birth prevalence of hypoplasia of the corpus callosum involved 1.02 per 10,000 live births, with 1.36 per 10,000 among boys, and 0.66 per 10,000 among girls. The male/female sex ratio was 2.2 for both total or partial agenesis and hypoplasia of the corpus callosum ( Szabó , 2011).The morphological anomalies of the corpus callosum may be agenesis (complete and partial), dysgenesis (Fig. 4), hypoplasia and hyperplasia (Raybaud, 2010;Yousefi & Kokhei, 2009;Hetts et al .,2006;Hanna , 2011).…”