Spectrum of corpus callosum agenesis – two different clinical patterns

Abstract

Agenesis of the corpus callosum (ACC) is a malformation which may occur either isolated or in association with other CNS or systemic abnormalities. ACC occurs sporadically, although the incidence is increased in chromosomal disorders such as trisomy 8, 13, or 18. Familial cases have also been reported. Apart from the CNS, the musculoskeletal and genitourinary systems may be affected as well. We report two clinical cases of infants diagnosed with ACC, associating different clinical presentations. A clinical presentation of hypothalamic-pituitary dysfunction, optic nerve atrophy, recurrent seizures, mycrocephalus, and failure to thrive, led to a septo-optic dysplasia - DeMorsier’s syndrome diagnosis in the first case; in the second case, an association of macrocrania, hydrocephalus and interemispheric cyst were found in an asymptomatic infant, who was diagnosed with ACC and type 1a interemispheric cyst at the age of 8 months.