| Neuroradiologic findings in Sengers syndrome. | |
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MedLine Citation:
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PMID: 18639755 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Sengers syndrome is characterized by a constellation of congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis. Two forms of the disease have been described: a fatal neonatal form, and a more benign form in which patients live into their second or third decades. With the exception of time to death, no findings have distinguished these two forms. We present 3 cases of neonatal Sengers syndrome with significant central nervous system involvement, a finding not previously described. We suggest that the fatal neonatal form of Sengers syndrome would be more accurately described as a mitochondrial encephalomyopathy. Cranial imaging may help distinguish the two types of this syndrome. |
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Authors:
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M Scott Perry; John T Sladky |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 39 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-07-21 Completed Date: 2008-11-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 113-5 Citation Subset: IM |
Affiliation:
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Division of Pediatric Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA. scott_perry@oz.ped.emory.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis, Lactic
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complications,
radiography* Adult Cardiomyopathy, Hypertrophic / complications, radiography* Fathers Humans Infant Male Microscopy, Electron, Transmission / methods Muscle, Skeletal / pathology*, ultrastructure Muscular Diseases / complications, radiography* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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