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.