A case of acrocallosal syndrome in a neonate with congenital heart abnormality

Abstract

The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. ACLS is a rare genetic disorder which may be autosomal recessive, however it usually occurs sporadically. A 20-day-old newborn was admitted to the pediatric clinic due to the discovery of corpus callosum agenesis during pregnancy. The fetal echocardiography revealed an ASD and moderate tricuspid regurgitation (TR). During limb assessment, right foot pre-axial polydactyly was noted, and skull exam revealed anterior fontanelle enlargement. The brain MRI showed agenesis of the corpus callosum and enlarged lateral ventricles. The parents had no consanguinity and their genetic test had shown no anomalies.The neurologist decided to monitor the neurological development of the child. The current case provides additional evidence that ACLS can be associated with pre-axial polydactyly and craniofacial symptoms including enlargement of the anterior fontanelle. Second-trimester ultrasonography can detect central nervous system malformations such as ventricular enlargement and corpus callosum anomalies. Moreover, Echocardiography is recommended to check for heart abnormalities in these children.