Joubert's Syndrome-Prenatal Diagnosis with Magnetic Resonance Imaging
Eva Ioannidou1* and Danai Chourmouzi2
1Chelsea and Westminster Hospital, United Kingdom
2Interbalkan Center of Thessaloniki, Greece
*Corresponding Author: Eva Ioannidou, Chelsea and Westminster Hospital, United Kingdom.
Received: July 09, 2022 Published: July 26, 2022
Clinical History
A 36-year-old woman was referred for evaluation after abnormal (hypoplasia of cerebellar vermis, mild ventriculomegaly, enlarged cisterns magna) ultrasound findings. Fetal MRI performed at 22 weeks of gestation showed vermian hypoplasia, abnormal lobation and thickened cerebellar peduncles, setting the suspicion of Joubert Syndrome. Fetus had a normal karyotype. Parents refused termination of the pregnancy. The child gradually developed intellectual disability, hypotonia, ataxia, apneic episodes and abnormal eye movements. Magnetic resonance follow-up images of the child aged 2 years confirm prominence of the interpeduncular fossa and a deep cleft in the midbrain between thickened cerebellar peduncles comprising the molar tooth sign. Final diagnosis is Joubert Syndrome (JS).
Citation: Ioannidou E, Chourmouzi D. “Joubert’s Syndrome-Prenatal Diagnosis with Magnetic Resonance Imaging”. SVOA Paediatrics 2022, 1:4, 95-97.