Agenesis of the corpus callosumina premature infant associated with Langdon-Down syndrome

Abstract

Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children. This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanquinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher corticalfunctions and intelligence. The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation. Radiological and genetic markers cannot make a difference between the asymptomatic and symptomatic characteristics of the disease. Therefore, it is very difficult to give genetic advice if the diagnosis is made prenatally. This part of the central nervous system is very well visualized by ultrasonic examination, thus in the absence of corpus callosum a special attention must be paid to other parts of the central nervous system, for diagnosing associated anomalies. If the diagnosis of agenesis of corpus callosum is made prenatally by ultrasound, a MR examination is advised for diagnosing other anomalies, especially in the central nervous system like lissencephalia, schizocephalia or heterotopia of the gray matter, where MR examination is superior to others.