| Radiological Clue to Diagnosis of Canavan Disease. | |
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MedLine Citation:
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PMID: 22660905 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Priya Sreenivasan; K K Purushothaman |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-6-2 |
Journal Detail:
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Title: Indian journal of pediatrics Volume: - ISSN: 0973-7693 ISO Abbreviation: - Publication Date: 2012 Jun |
Date Detail:
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Created Date: 2012-6-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417442 Medline TA: Indian J Pediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pediatrics, Government Medical College, Thrissur, Kerala, India, priyavineed@yahoo.co.in. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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