MOLAR TOOTH SIGN - JOUBERT SYNDROME

• Main Authors: Dušica Ranđelović, Tatjana Mikić-Ranđelović, Darko Laketić
• Format: Article
• Language: English
• Published: University in Nis, Faculty of Medicine 2015-09-01
• Series: Acta Medica Medianae
• Subjects: Joubert Syndrome; cerebellar vermis hypoplasia; molar tooth sign; MRI
• Online Access: http://publisher.medfak.ni.ac.rs/2015-html/2015%203-broj/Celi%20radovi%20pdf%202015-3/Randjelovic%20Dusica.pdf

The molar tooth sign is seen in very few conditions and is a very rare pediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome, this is seen in about 85% of patients. We present a case of a two-year old girl with flaccid paraparesis, regression of milestones and developmental delay. Magnetic resonance imaging (MRI) showed the characteristic molar tooth sign with apposition of cerebellar hemispheres, batwing-shaped fourth ventricle, cerebellar vermis agenesis and deep interpeduncular fossa consistent with the diagnosis of Joubert syndrome.