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2017, Number 1

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Anales de Radiología México 2017; 16 (1)

Joubert Syndrome: case report and review of the bibliography

Negreros-Osuna JP, Sánchez-Montaño M, Morales-Sánchez FF

Language: Spanish
References: 10
Page: 66-71
PDF size: 365.40 Kb.


ABSTRACT

Joubert syndrome is a genetic disease with autosomal recessive inheritance, which belongs to a set of diseases catalogued as congenital ciliopathies, which have low, but not yet correctly estimated incidence. It is characterized by a broad spectrum of alterations, which may include agenesis of the cerebellar vermis and clinical presence of hyperpnea, abnormal eye movements, ataxia, and intellectual disability; however, diagnosis is by image study and is given by the “molar tooth sign” in axial slices of magnetic resonance images of the mesencephalon; once identified it is pathognomonic and there is no differential diagnosis. The different combinations of alterations reported constitute the broad spectrum of the syndrome.


REFERENCES

  1. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet Journal of Rare Diseases. 2010;5(1):20.

  2. Sattar S, Gleeson JG. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Developmental Medicine & Child Neurology. 2011;53(9):793-8.

  3. Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, et al. KIAA0586 is Mutated in Joubert Syndrome. Human Mutation. 2015;36(9):831-5.

  4. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. The Lancet Neurology. 2013;12(9):894-905.

  5. McGraw P. The Molar Tooth Sign. Radiology. 2003;229(3):671-2. PubMed PMID: 14657304.

  6. Poretti A, Boltshauser E, Valente EM. The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome! Pediatric Neurology. 2014 6//;50(6):e15-e6.

  7. Papanagnu E, Klaehn LD, Bang GM, Ghadban R, Mohney BG, Brodsky MC. Congenital ocular motor apraxia with wheel-rolling ocular torsion a neurodiagnostic phenotype of Joubert syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2014 8//;18(4):404-7.

  8. Manley AT, Maertens PM. The Shepherd’s Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome. Journal of Neuroimaging. 2015;25(3):510-2.

  9. Elhassanien AF, Alghaiaty HA-A. Joubert syndrome: Clinical and radiological characteristics of nine patients. Annals of Indian Academy of Neurology. 2013;16(2):239-44.

  10. Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, et al. Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome. Ultrasound in Obstetrics & Gynecology. 2011;38(5):598-602.




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