Clinical and diagnostic profile of agenesis of the corpus callosum

This study reports the clinical profile, etiologies identified, and outcomes for a consecutive series of children with partial or complete agenesis of the corpus callosum. Children with agenesis of the corpus callosum were identified in a comprehensive computerized database of all patients seen in a single pediatric neurology practice over an 11-year interval. Medical records were then systematically reviewed. Twenty-four children with agenesis of the corpus callosum were identified of a total of 6911 children in the database (0.35%). Fifteen were male (62.5%); 9 (37.5%) had presented antenatally, 6 (25%) neonatally, and 9 (37.5%) postneonatally. Eight (33.3%) were microcephalic, 12 (50%) were dysmorphic, 11 (45.8%) had coexisting epilepsy, and 9 (37.5%) had a cerebral palsy variant. Investigations revealed an etiology in 11 (45.8%): 3 chromosomal abnormality, 3 metabolic disorder, 3 cerebral dysgenesis, and 2 genetic syndromes (Aicardi, Andermann). Outcomes identified included normal or mild developmental delay in 7 (29.2%) and moderate-severe developmental delay in the remaining 17 (70.8%). Factors predictive of successful etiologic determination on bivariate analysis included moderate-severe developmental delay or associated cerebral dysgenesis. Factors predictive of eventual developmental outcome included microcephaly, coexisting epilepsy, cerebral palsy, or cerebral dysgenesis. A spectrum of clinical presentations, underlying etiology, and developmental outcome is thus apparent in children with agenesis of the corpus callosum. An underlying etiology can be identified in slightly less than half of cases, and a normal or mildly delayed outcome is apparent in slightly less than a third. Factors predictive of identifying an underlying etiology or eventual outcome can be identified.