Callosal anomalies are frequently associated with other central nervous system (CNS) and/or somatic anomalies. We retrospectively analyzed the clinical features of corpus callosal agenesis/hypoplasia accompanying other CNS and/or somatic anomalies. We reviewed the imaging and clinical information of patients who underwent brain magnetic resonance imaging in our hospital, between 2005 and 2012. Callosal anomalies were isolated in 13 patients, accompanied by other CNS anomalies in 10 patients, associated with only non-CNS somatic anomalies in four patients, and with both CNS and non-CNS abnormalities in four patients. Out of 31 patients, four developed normally, without impairments in motor or cognitive functions. Five of nine patients with cerebral palsy were accompanied by other CNS and/or somatic anomalies, and showed worse Gross Motor Function Classification System scores, compared with the other four patients with isolated callosal anomaly. In addition, patients with other CNS anomalies also had a higher seizure risk.
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Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.
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