Isolated complete agenesis of corpus callosum

Agenesis of corpus callosum (ACC) often accompanies other neural migration disorders and its prognosis must take these disorders and other associated abnormalities into account. Isolated complete ACC, i.e., agenesis of corpus callosum without other central nervous system anomaly, is rare. A total of six patients, aged nine months to 15 years, with isolated complete ACC diagnosed by brain image study in the past eight years of our hospital were evaluated for associated defects and prognosis. Isolated complete ACC without associated congenital heart disease (CHD) was found in four of the six patients (4/6), of whom three had normal development so far. The other two patients (2/6) were found to have associated CHD and both had poor prognosis. This result suggests that checking for any associated CHD may play an important prognostic role for isolated complete ACC patients. Therefore, it is recommendable that prenatal brain MRI and fetal echocardiography should be performed for evaluation and for genetic consultation whenever ACC is suspected.