Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders

• Published in: Ultrasound in obstetrics & gynecology Vol. 43; no. 2; pp. 227 - 232
• Main Authors: Quarello, E., Molho, M., Garel, C., Couture, A., Legac, M. P., Moutard, M. L., Bault, J. P., Fallet‐Bianco, C., Guibaud, L.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.02.2014; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple; Cerebellar Diseases - diagnosis; Cerebellar Diseases - diagnostic imaging; cerebellar vermis; Cerebellum - abnormalities; ciliopathy; Eye Abnormalities - diagnosis; Eye Abnormalities - diagnostic imaging; Female; Fourth Ventricle - abnormalities; Fourth Ventricle - diagnostic imaging; Gestational Age; Humans; Imaging, Three-Dimensional; Kidney Diseases, Cystic - diagnosis; Kidney Diseases, Cystic - diagnostic imaging; Magnetic Resonance Imaging - methods; molar tooth sign; MRI; posterior fossa; Pregnancy; Prenatal Diagnosis - methods; Retina - abnormalities; Retina - diagnostic imaging; Ultrasonography, Prenatal - methods; ultrasound; molar tooth sign; MRI; cerebellar vermis; posterior fossa; ultrasound; ciliopathy
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1002/uog.12567

ABSTRACT Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two‐dimensional ultrasound and, when performed, on three‐dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.