Corpus callosum agenesis

Background. Corpus callosum agenesis (CCA) is an uncommon entity, which can be diagnosed in utero. Uncertain prognosis makes prenatal counseling difficult. Aim. We have tried to establish a positive correlation between clinical history and imaging findings inpatients with CCA. Patients and methods. We retrospectively reviewed clinical data and imaging findings of patients with callosal agenesis diagnosed at our institution between December 1995 and September 2002. Results. Eight patients with CCA were found, five males and three females. Mean age at last clinical follow-up was six years and six months, ranging from three months to 20 years. All diagnoses except for one were post-natal. A 11 patients underwent, at least, one magnetic resonance (MR) of the brain. Abnormal pregnancy was reported in three patients. Family history was unremarkable in all patients. Three patients were diagnosed with isolated CCA. One of these patients was asymptomatic at three months. Another had a slight language delay at seventeen months. The other patient had a mild developmental delay at five years. All other five patients had non-isolated CCA and all were symptomatic, with variable clinical pictures: psicomotor developmental delay (4), epilepsy (4), hemiparesis (1), ocular apraxia (1), macrocephaly (2). Conclusion. Non-isolated CCA is likely to have a worse prognosis. This may be of significant value in prenatal counseling.