Document Detail

Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.
MedLine Citation:
PMID:  10788748     Owner:  NLM     Status:  MEDLINE    
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.
J Muneuchi; Y Tokunaga; R Kira; K Gondo; T Hara
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  22     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2000 Apr 
Date Detail:
Created Date:  2000-05-31     Completed Date:  2000-05-31     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  302-4     Citation Subset:  IM    
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
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MeSH Terms
Charcot-Marie-Tooth Disease / complications*,  genetics*
Chromosomes, Human, Pair 17*
Encephalomyelitis, Acute Disseminated / complications*,  diagnosis
Gene Deletion*
Magnetic Resonance Imaging
Myelin Proteins / genetics
Reg. No./Substance:
0/Myelin Proteins; 0/PMP22 protein, human

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