Apert Syndrome with Agenesis of the Corpus Collosum - Case Report

Apert syndrome (Acrocephalosyndactylia type 1) belongs to the group of extremely rare congenital dysmorphic syndromes. It is characterized by craniostenosis with very early fusion of the skull and / or cranial base sutures, facial hypoplasia, symmetrical syndactyly of the fingers and toes and other systemic malformations. Multiple CNS abnormalities are common, but simultaneous occurrence of Apert syndrome and agenesis of corpus callosum is estimated about 10%.

We present a male patient born after first, normal and controlled pregnancy and term, naturally birth, in which the Apert syndrome was diagnosed, based on the clinical presentation of the skull and face and syndactyly of fingers and toes. Neurological examination established generalized hypotonia and aggravated provocation of the primitive reflexes. Neurosonography showed complete agenesis of the corpus callosum, which makes this case a rare form of this syndrome. The head X-rays showed turricephalic skull shape and suture’s synostoses, which is demonstrated in more detail at computed tomography finding. The hands and feet X-rays showed bone synostosis of fingers and toes. The video-electroencephalogram recorded intermittent depression of electrocortical activity. There was conducted the multidisciplinary examination in order to examine the possibility of reconstructive and plastic surgical correction of the anomalies.

The neurodevelopmental disorders in patients with Apert syndrome can be manifested by a variety of congenital malformations, but considering its rare occurrence, the significance of these abnormalities remains unknown.