Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome)

Byju, N; Jose, James; Saifudheen, K; Musthafa, Mohammed

doi:10.4103/0972-2327.78057

Cited by 2 publications

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References 4 publications

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“…Some experts believe molar tooth sign on images to be a clear diagnostic indicator for the disease. However, it is essential to note that not all cases will display this particular imaging feature [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of CT and MRI Manifestations of Joubert Syndrome

Liao,

Zheng

2023

Journal of the Belgian Society of Radiology

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Objective: To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS). Method: In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively. Results: JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case. Conclusion: JS has distinctive CT and MRI characteristics that can be clinically identified.

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Section: Discussionmentioning

confidence: 99%