home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 1026      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2011  |  Volume : 6  |  Issue : 1  |  Page : 44-47

A report of Joubert syndrome in an infant, with literature review


1 Department of Radiodiagnosis, Dayanand Medical College and Hospital, Ludhiana, Punjab, India
2 Department of Pediatrics, Dayanand Medical College and Hospital, Ludhiana, Punjab, India

Correspondence Address:
Paramdeep Singh
Department of Radiodiagnosis, Dayanand Medical College and Hospital, Ludhiana - 141 001, Punjab
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.84407

Rights and Permissions

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. The exact diagnosis is often not made for several years after birth. This report shows that with the availability of magnetic resonance imaging (MRI), especially in developing countries like India, it is quite feasible to make an early diagnosis which may positively affect the subsequent management and outcome. We present a case of JS in a 7-month-old girl who presented to the pediatric outpatient clinic with developmental delay and abnormal eye movements. MRI showed molar tooth configuration of superior cerebellar peduncles, the fourth ventricle shaped like a bat wing and hypoplasia of the vermis which resulted in median approach of the two cerebellar hemispheres.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed3193    
    Printed136    
    Emailed4    
    PDF Downloaded218    
    Comments [Add]    
    Cited by others 1    

Recommend this journal