Beyond the Molar Tooth Sign: Joubert Syndrome Associated with Complete Agenesis of the Corpus Callosum in an Epileptic Child

Authors

Mehdi Salmane, Alia Yassine Kassab, Lina Lasri, Lina Belkouchi, Siham El Haddad, Nazik Allali, Latifa Chat

Journal Information

Journal: Medpeer Publisher

ISSN: 3066-2737

Volume: 3

Issue: 6

Date of Publication: 2026/06/04

DOI: 10.70780/medpeer.000QGT8

Abstract

Joubert syndrome is a rare neurodevelopmental disorder characterized by cerebellar vermian hypoplasia and the pathognomonic molar tooth sign on magnetic resonance imaging (MRI). Although several supratentorial abnormalities have been described, complete agenesis of the corpus callosum remains an uncommon association. We report the case of an 8-year-old child with epilepsy and macrocrania whose brain MRI demonstrated classic features of Joubert syndrome, including vermian hypoplasia, horizontalized superior cerebellar peduncles, and the molar tooth sign, associated with complete agenesis of the corpus callosum and colpocephaly. This case highlights the broad neuroradiological spectrum of Joubert syndrome and the importance of comprehensive MRI evaluation for identifying associated cerebral malformations.

Keywords

Joubert syndrome, Corpus callosum agenesis, Molar tooth sign, Pediatric neuroradiology, Epilepsy.