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Case Reports
. 2019 Dec 18;11(12):e6410.
doi: 10.7759/cureus.6410.

Joubert Syndrome: A Rare Radiological Case

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Free PMC article
Case Reports

Joubert Syndrome: A Rare Radiological Case

Ali Akhtar et al. Cureus. .
Free PMC article

Abstract

Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle.

Keywords: batwing configuration; delayed milestones; infantile hypotonia; joubert syndrome; molar tooth appearance; oculomotor dysfunction.

Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Axial T1-weighted MRI
R: Right side orientation; L: Left side orientation; T1: Longitudinal relaxation time; MRI: Magnetic resonance imaging. Imaging shows deep interpeduncular fossa (yellow arrow) with thick and elongated superior cerebellar peduncles (blue arrow) imparting molar tooth appearance and aplasia of the cerebellar vermis with cerebellar hemispheres (red arrow).
Figure 2
Figure 2. Batwing configuration of the fourth ventricle (blue arrows)
R: Right side orientation; L: Left side orientation.
Figure 3
Figure 3. Sagittal T2-weighted MRI
AR: Anterior; PL: Posterior; T2: Transverse relaxation time; MRI: Magnetic resonance imaging. Imaging depicts a deep interpeduncular fossa (yellow arrow) and prominent fourth ventricle (red arrow).

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