| Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy. | |
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MedLine Citation:
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PMID: 10788748 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. Magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system. |
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Authors:
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J Muneuchi; Y Tokunaga; R Kira; K Gondo; T Hara |
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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: 22 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2000 Apr |
Date Detail:
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Created Date: 2000-05-31 Completed Date: 2000-05-31 Revised Date: 2006-05-23 |
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: 302-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Charcot-Marie-Tooth Disease
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complications*,
genetics* Child Chromosomes, Human, Pair 17* Encephalomyelitis, Acute Disseminated / complications*, diagnosis Female Gene Deletion* Humans Magnetic Resonance Imaging Myelin Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/Myelin Proteins; 0/PMP22 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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