Prenatal ultrasonographic diagnosis of polymicrogyria

F Dhombres1, C Nahama-Allouche, A Gelot

  • 1Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, AP-HP, Paris, France.

Insights

A rare case of polymicrogyria, a brain abnormality, was diagnosed prenatally via ultrasound in a fetus with cytomegalovirus (CMV) infection. This highlights the importance of advanced imaging for detecting fetal brain malformations.

Area of Science:

  • Prenatal Diagnosis
  • Neuroimaging
  • Fetal Medicine

Background:

  • Polymicrogyria is a congenital brain malformation characterized by an excessive number of small, unusually folded cerebral cortical gyri.
  • Cytomegalovirus (CMV) infection during pregnancy can lead to various fetal brain abnormalities.
  • Early and accurate diagnosis of fetal brain abnormalities is crucial for management and counseling.

Observation:

  • A rare case of polymicrogyria was diagnosed at 27 weeks' gestation using ultrasound.
  • Ultrasound revealed direct visibility of the overfolded cortical ribbon and enlarged pericerebral space, indicative of micrencephaly secondary to CMV infection.
  • Associated findings included bilateral opercular dysplasia and periventricular cysts; fetal MRI confirmed marked micrencephaly despite normal ultrasound cephalic measurements.

Findings:

  • The study demonstrated that polymicrogyria can be diagnosed prenatally through characteristic ultrasound findings, such as the visible overfolded cortical ribbon.
  • Fetal magnetic resonance imaging (MRI) confirmed the ultrasound diagnosis and revealed significant micrencephaly, underscoring the complementary roles of both imaging modalities.
  • The case suggests that polymicrogyria may be more readily diagnosed in the second trimester before secondary sulci develop.

Implications:

  • This case highlights the utility of combining ultrasound and MRI for comprehensive prenatal diagnosis of complex fetal brain abnormalities.
  • It emphasizes the potential for CMV infection to cause significant cerebral malformations like polymicrogyria and micrencephaly.
  • Early second-trimester ultrasound may be valuable for detecting polymicrogyria before secondary sulci obscure the diagnosis.

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