Abstract
Objective
We aim to identify the associated abnormalities, underlying etiology, and risk factors
that may lead to motor/cognitive impairment in children with corpus callosum (CC)
malformations. This will provide clinicians with data to predict the prognosis of
children with CC malformations in the prenatal and/or neonatal period.
Methods
Children with agenesis or hypoplasia of any part of the CC on neuroimaging within
11 years at a tertiary care university hospital were retrospectively evaluated for
demographic and clinical characteristics, other associated systemic abnormalities,
etiologies, and prognosis. Children with a history of hypoxia, intracranial hemorrhage,
hydrocephaly, stroke, or brain tumor were excluded. Data analysis was performed with
SPSS software. Univariate and multivariate analyses were used to evaluate risk factors
for the development of motor/cognitive impairment.
Results
A total of 165 children were included, 44% of whom were girls. The most common associated
abnormality was ocular. Microcephaly was present in 42% (n = 69). Regarding the genetic etiology, five children were diagnosed by karyotype
analysis, two by trinucleotide repeat analysis, one by fluorescence in situ hybridization
analysis, seven by array comparative genomic hybridization, 11 by single gene mutations,
and 15 by whole-exome sequencing. The presence of microcephaly, epilepsy, abnormal
electroencephalogram (EEG) findings, and abnormal neurological examination was associated
with the risk of developing both cognitive and motor delay. Involvement of a body
part of the CC was slightly associated with the risk of motor delay (p = 0.043).
Conclusion
Malformations of the CC can result in varying degrees of neurodevelopmental disability.
The presence of microcephaly, epilepsy, abnormal EEG findings, and abnormal neurological
examination can be used to predict the outcome.
Keywords
children - corpus callosum - malformation - outcome - predictors
