Case presentation
The patient was a 20-day-old boy who was brought to the Pediatric Neurology Clinic due to the discovery of corpus callosum agenesis during the 32th week of the mother’s pregnancy. He was first in birth order and was delivered by cesarean section at 38 weeks.The patient’s parents mentioned no history of similar disorders in their family. No consanguinity existed between the parents. They had previously undergone a genetic test that revealed no abnormalities. The patient’s mother was 29 years old and was a hairdresser. The mother possessed no prior abortions. She had no history of illness, smoking, or use of alcohol or drugs during or before the pregnancy. Only in the 28th week of pregnancy did the mother experience a sore throat, and polymerase chain reaction revealed the presence of SARS-COV-2. She had received two doses of Sinopharm vaccine at 15 and 21 weeks of gestation. Early prenatal tests revealed no abnormalities. The 12th gestational week screening ultrasonography revealed NT<3cm and CRL=60.7cm, both of which were normal. In the 17th week ultrasonograghy, the risk of placenta previa was noted since the placenta was located in the anterior wall of the uterus. At 5 months of gestation, echocardiography was also conducted for the fetus, which showed the presence of atrial septal defect (ASD) and mild tricuspid regurcitation (TR). In the 32nd week of pregnancy, an ultrasonography revealed evidence of hydrocephalus in the occipital ventricles with AP trigone maximal diameter of 16 mm. Anomalies of the corpus callosum were suggested based on the teardrop sign in the frontal horn view. The dilated ventricles resembled colpocephaly, and the third cerebral ventricle was slightly displaced. Based on the results of the sonography, it was decided to refer to the pediatric neurology clinic for additional evaluations following the child’s delivery. The apgar score of the newborn was 9 out of 10. His birth weight was 2780 gr, birth height was 47 cm, and birth head circumference was 34 cm.
On arrival at the clinic, the child was in a good general condition. He had stable vital signs. His height and head circumference were normal and within the Z-score range of 0 to +1, and his weight was 3450 gr within the Z-score range of -2 to -1. Examination of the skull indicated anterior fontanelle enlargement. On the patient’s face there were no apparent abnormalities. A short systolic ejection murmur was detected in the left fourth parasternal space during a cardiovascular examination. His muscle tone and infantile reflexes were normal. The right foot pre-axial polydactyly was observed during the limb assessment (figure 1). The examination of the abdomen and genitourinary system was normal.
Brain MRI and electroencephalogram were performed for the patient. The electroencephalogram results were unremarkable. On the MRI of the brain, agenesis of the corpus callosum was noted in association with colpocephaly and significant enlargement of the lateral ventricles (figures 2 and 3). Based on the foregoing, the pediatric neurologist made the decision to follow up the child’s neurological development.