Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.
Case report:
This is a 28-year-old woman, G2P1without obstetric risk factors and relevant medical history.
The first sonography visualized a normal pregnancy. The patient did not have any fever during the first and second trimester. The first scan was normal. The nuchal translucency was 1 mm for CRL = 54 mm. The triple test was 1:1500. The fetal growth was normal. The second scan was normal at 22 weeks.
At 29 weeks, serial ultrasound scans revealed different cerebral anomalies (Figure 1-6).
- There was bilateral ventriculomegaly (14 mm) with periventricular hyperechogenecity.
- Bilateral germinolysis cysts were present (Figure 7-10).
The ultrasound features were suggestive of corpus callosus agenesis (Figure 11-12). Facial profile was normal (Figure 13-14).
The upper and lower limbs were normal.
At 31 weeks, we performed amniocentesis. The fetal karyotype was 46XX. The level of acetylcholine in amniotic fluid, was normal. The classic viruses were searched in the amniotic fluid (Herpes, Cytomegalovirus, Parvovirus B19). The Kleihauer test was negative. CMV was found.
At 32 weeks, another cerebral sonography showed sign of lissencephaly with abnormal sylvian operculation. The ventriculomegaly had increased (Figure 15). Subarachnoid space was moderately enlarged. Further examination of the brain in coronal and transverse sections showed a lack of sulci and gyri. The corpus callosus was not visualized (Figure 16-18).
Prenatal MRI (31 weeks) explored the fetus. The corpus callosus agenesis was confirmed (Figure 19-22), with bilateral ventriculomegaly, and lissencephaly.
The patient met a neuro-pediatrician and a neonatologist, who explained the poor pronostic (Failure to thrive, infantile spasms and seizures, deafness, etc). The patient met the psychiatrist .
Figure 1-6: At 29 weeks, bilateral ventriculomegaly (14 mm) with periventricular hyperechogenecity, bilateral germinolysis cysts