Document Detail


Radiological Clue to Diagnosis of Canavan Disease.
MedLine Citation:
PMID:  22660905     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and blindness. The authors present an infant with these clinical features. MRI brain shows white matter changes with characteristic involvement of subcortical U fibres and MR spectroscopy shows the characteristic peak of N- acetyl aspartate. The importance of specific clinical features and imaging in the diagnosis of different leukodystrophies in resource and access limited settings is suggested.
Authors:
Priya Sreenivasan; K K Purushothaman
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-2
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  -     ISSN:  0973-7693     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Pediatrics, Government Medical College, Thrissur, Kerala, India, priyavineed@yahoo.co.in.
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