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Heather Borders, MD
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Joubert Syndrome

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 5 years ago
Updated: over 5 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

9 year old female with hypotonia and ataxia.


Case Images


Diagnosis

Joubert Syndrome

Findings

MR – Axial T2 images of the posterior fossa show abnormal foliation and fissures of the cerebellar hemispheres, enlarged elongated and parallel superior cerebellar peduncles, deep interpeduncular fossa, and absence of the vermis.

Discussion

Joubert syndrome is genetic defect characterized by hypotonia, ataxia, oculomotor apraxia, facial dysmorphism and irregular neonatal breathing; additional involvement of the kidneys, liver and/or eyes represents various Joubert syndrome related disorders. The hallmark structural defects of Joubert syndrome are dysgenesis of the isthmus (part of the brainstem between pons and inferior colliculus) and deep interpeduncular fossa, thickening of superior cerebellar peduncles, hypoplasia/dysplasia of the vermis. Combination of the first three features produce the characteristic “molar tooth sign”. Supratentorial findings that may occur include: hippocampal rotation, callosal dysgenesis, cephaloceles, heterotopia/cortical dysplasia, hypothalamic hamartoma, and ventriculomegaly.

Reference

Poretti A, Huisman TAGM, Scheer I, Bolthauser E. Joubert syndrome and related disorders: Spectrum of neuroimaging findings in 75 patients. AJNR (2011); 32:1459-1463



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