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Case Reports
. 2014 Mar 20:2014:bcr2014203887.
doi: 10.1136/bcr-2014-203887.

Joubert syndrome

Lakshmikanth Halegubbi Karegowda  1 , Poonam Mohan Shenoy, Smiti Sripathi, Mugil Varman
Affiliations
Case Reports

Joubert syndrome

Lakshmikanth Halegubbi Karegowda et al. BMJ Case Rep. .
No abstract available

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Figures

Figure 1
Figure 1
Axial CT section showing thickened parallel superior cerebellar peduncles with widened interpeduncular fossa giving the ‘molar tooth’ appearance.
Figure 2
Figure 2
Sagittal CT section showing a horizontal orientation of the thickened superior cerebellar peduncle.
Figure 3
Figure 3
Axial CT section showing a ‘batwing’ configuration of the fourth ventricle and an enlarged prepontine cistern. The cerebellum and pons appear normal.
Figure 4
Figure 4
Sagittal CT section showing an enlarged deformed fourth ventricle, hypoplastic vermis and deepened interpeduncular fossa. The corpus callosum appears normal.
See this image and copyright information in PMC

References

    1. Spampinato MV, Kraas J, Maria BL, et al. Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. Am J Med Genet A 2008;146A:1389–94 - PubMed
    1. Joubert M, Eisenring JJ, Robb JP, et al. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 1969;19:813–25 - PubMed
    1. Kendell B, Kingsley D, Lambert SR, et al. Joubert`s syndrome; a clinicoradiological study. Neuroradiology 1990;31:502–6 - PubMed
    1. Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423–30 - PubMed
    1. Poretti A, Huisman TAGM, Scheer I, et al. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32:1459–63 - PMC - PubMed

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Supplementary concepts