Congenital asymmetric crying facies and agenesis of corpus callosum.

ABSTRACT

Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported, but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although café-au-lait spots have been described in previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental, clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies for detecting brain anomalies in cases with CACF and suspected CNS involvement.