EP05.49: Early detection matters: prenatal diagnosis of lissencephaly in a primigravida

Lissencephaly, a rare brain malformation characterised by smooth brain surfaces due to abnormal neuronal migration, is typically diagnosed postnatally. We present a case of prenatal diagnosis in a 22-year-old primigravida at 32 weeks of gestation. Initial ultrasound findings revealed absence of the corpus callosum, an abnormally large and dilated third ventricle, loss of gyri (pachygyria), and lack of cerebral neuronal maturation. Subsequent MRI confirmed the diagnosis. MRI fetal reported bilateral symmetrical temporo-posterior dominant lissencephaly complex with hypomyelination, corpus callosum agenesis. The couple was counselled for amniocentesis to assess the ARX gene. The patient opted for termination of pregnancy, which was carried out at 35 weeks at the same time of amniocentesis. This case underscores the challenges and importance of early diagnosis and counselling for fetal central nervous system abnormalities. Advanced ultrasound technology and updated neurosonogram guidelines by the ISUOG allow for suspected lissencephaly to be evaluated and confirmed antenatally. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.