What question did this study set out to answer?

The case aims to illustrate the diagnosis of Joubert's syndrome in a child using MRI.

June 3, 2026Journal of Pediatric Neurosciences0 citationsOpen Access

Joubert’s Syndrome with Posterior Fossa Arachnoid Cyst

SCShruti Chandak YSYash Shukla SJShruti Jain

Key Points

The case aims to illustrate the diagnosis of Joubert's syndrome in a child using MRI.
Detailed clinical evaluation of a 2-year-old male with seizures and developmental delay.
MRI was performed to assess brain structure.
Imaging findings were analyzed for characteristic signs of Joubert's syndrome.
MRI findings showed thickened and horizontally oriented superior cerebellar peduncles.
A deep interpeduncular fossa was noted, contributing to a 'molar tooth appearance' indicative of Joubert's syndrome.
Vermian hypoplasia was also observed, reinforcing the diagnosis.

Abstract

A bstract We report the case of a 2-year-old male child with Joubert’s syndrome who presented with seizures and global developmental delay. Magnetic resonance imaging (MRI) revealed thickened, elongated, and horizontally orientated superior cerebellar peduncles and a deep interpeduncular fossa, giving a “molar tooth appearance” along with vermian hypoplasia, suggestive of Joubert’s syndrome. This case highlights the indispensable role of MRI in the diagnosis of Joubert’s syndrome and also shows the various characteristic imaging signs.

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