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An Unusual Case of Ataxia: Joubert Syndrome
Author(s):
1. ANITA KUMARI: Department of Pediatrics, SRMS Institute of Medical Sciences, BAREILLY 243202 (UP), INDIA
2. SATISH C. AGRAWAL: Department of Pediatrics, SRMS Institute of Medical Sciences, BAREILLY 243202 (UP), INDIA
Abstract:
Chronic or progressive ataxia in children may be caused by a number of conditions, including brain tumors, malformations and hereditary disorders. We report here a case of a 5 year old boy who presented with ataxia and developmental delay and on investigation was found to be a case of Joubert syndrome. MRI of the brain shows the characteristic molar tooth sign. Although, Joubert syndrome is not a common condition, yet it has clinical features which are very commonly found; that is why a high index of suspicion is needed, as such children are frequently misdiagnosed.
Page(s): 185-187
DOI: DOI not available
Published: Journal: Pakistan Paediatric Journal, Volume: 37, Issue: 3, Year: 2013
Keywords:
Ataxia , Joubert syndrome , Molar tooth sign
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