Document Detail

Acute motor and sensory axonal neuropathy in LEOPARD syndrome.
MedLine Citation:
PMID:  20304339     Owner:  NLM     Status:  MEDLINE    
A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with LEOPARD syndrome (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness). The presentation was atypical for acute motor and sensory axonal neuropathy, in that this patient had progression of symptoms of more than 4 weeks and there were signs of reinnervation in the acute phase. Treatment response to intravenous immunoglobulins was excellent. In patients with LEOPARD syndrome and acute neuropathies, treatment with intravenous immunoglobulins should be considered.
Richard J Beukers; Annemarie C M van Bellegem; Mariken Gruppen; Wouterina C G Overweg-Plandsoen; Marinus Vermeulen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  42     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-03-22     Completed Date:  2010-07-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  301-3     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Elsevier Inc. All rights reserved.
Department of Neurology, Academic Medical Center, University of Amsterdam, 1100 D Amsterdam, The Netherlands.
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MeSH Terms
Action Potentials
Acute Disease
Axons / physiology
Disease Progression
Immunoglobulins, Intravenous / therapeutic use*
Immunologic Factors / therapeutic use*
LEOPARD Syndrome / complications*,  physiopathology
Motor Neurons / physiology
Muscle, Skeletal / physiopathology
Peripheral Nervous System Diseases / complications*,  drug therapy*,  physiopathology
Sensory Receptor Cells / physiology
Treatment Outcome
Reg. No./Substance:
0/Immunoglobulins, Intravenous; 0/Immunologic Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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