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NEURORADIOLOGY Table of Contents   
Year : 2006  |  Volume : 16  |  Issue : 4  |  Page : 765-766
Joubert`S syndrome


Department of Radiodiagnosis, V S HOSPITAL, Ellisbridge , Ahmedabad- 380016, India

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Date of Submission10-May-2006
Date of Acceptance10-Nov-2006
 

Keywords: Joubert`S Syndrome, Bat-Wing Sign, Molar-Tooth Sign

How to cite this article:
Shah R R, Agarwal H, Banuprakash S, Shah B, Shah J. Joubert`S syndrome. Indian J Radiol Imaging 2006;16:765-6

How to cite this URL:
Shah R R, Agarwal H, Banuprakash S, Shah B, Shah J. Joubert`S syndrome. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Aug 24];16:765-6. Available from: http://www.ijri.org/text.asp?2006/16/4/765/32342

   Introduction Top


Joubert`s syndrome is a rare autosomal recessive disorder that is characterized by agenesis or hypoplasia of the cerebellar vermis and malformed brainstem.


   Case report Top


A 16 year old female was referred to radiology department due to developmental delay and ataxia.CT and MRI Brain were performed.The axial MR images showed dysplasia of the superior cerebellar peduncle that resulted in molar tooth appearance(Fig-1).The more caudal images showed the 4th ventricle shaped like a bat-wing(CT-Fig-2).Lower down MR images showed midline cerebellar cleft as a result of severe hypoplasia of vermis(Fig-3).

The clinical history of delayed development and ataxia together with imaging findings is classic of Joubert`s syndrome.


   Discussion Top


This syndrome was named after the French neurologist who first described the clinical findings.The clinical features of Joubert`s syndrome consists of abnormal eye movements with nystagmus,episodes of hyperpnea/apnea, delayed motor development and ataxia[1].

The syndrome is associated with retinal coloboma with retinal dystrophy,tongue protrusion,multicystic kidney disease and polydactyly.

A classification into two groups has been proposed on the basis of the presence or absence of retinal dystrophy.In the group with retinal dystrophy there is high prevalence of multicystic kidney disease and the prognosis is poor[2].

Partial or complete agenesis of the cerebellar vermis has been described as an isolated anomaly or as part of Dandy-Walker syndrome or Down`s syndrome.

Patients with Joubert`s syndrome are extremely sensitive to the respiratory depressant effects of anaesthetics such as opioids and nitrous oxide.Therefore these agents should be avoided and close perioperative monitoring is essential[3].

The tretment of Joubert`s syndrome is symptomatic and supportive.Infant stimulation and physical occupational and speech therapy may benefit some children.Infants with abnormal breathing should be monitored[4].


   Imaging findings Top


The main imaging findings which are present in almost uniformly are partial or complete agenesis of the vermis ,hypoplastic cerebellar peduncles and 4th ventricular deformity.The cerebellar hemispheres are usually normal.The cerebrum is not affected.The absence of vermis leads to a midline cleft between the cerebellar hemispheres,which are both normal.The hypoplasia of cerebellar peduncles leads to molar-tooth sign.Severe hypoplasia of vermis gives a bat-wing appearance to the 4th ventricle[5].

 
   References Top

1.Saraiva JM,Baraitser M.Joubert`s syndrome;A review. Am.J.Med Gnet 1992;43:726-731 (Medline)  Back to cited text no. 1    
2.Kendell B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert`s syndrome; a clinicoradiological study.Neuroradiology 1990;31:502-506 (Medline)  Back to cited text no. 2    
3.Habre W, Sims C, D`Souze M, Anaesthetic management of children with Joubert`s syndrome.Paediatric anaesthesia 1997;7:251-253.  Back to cited text no. 3    
4.Steinlin M, et al. Follow up in children with Joubert`s syndrome. Neuropaediatrics 1997; 28:204-211  Back to cited text no. 4    
5.Barkovich, AJ Paediatric Neuroimaging 5:345-348. William and Wilkins 2000  Back to cited text no. 5    

Top
Correspondence Address:
R R Shah
B/11 Rangdeep Flats, Navrangpura, Ahmedabad-380009
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.32342

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    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

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    Introduction
    Case report
    Discussion
    Imaging findings
    References
    Article Figures

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