Document Detail

Acute progression of neuromuscular findings in infantile Pompe disease.
MedLine Citation:
PMID:  20472203     Owner:  NLM     Status:  MEDLINE    
A 2-year-old girl with Pompe disease developed an acute worsening of muscle weakness during a hospitalization, and required intubation for an upper respiratory infection. Electromyography and nerve conduction studies produced results consistent with a severe chronic motor axonal peripheral polyneuropathy, with no evidence of reinnervation. Magnetic resonance imaging of the brain demonstrated generalized hypomyelination and parenchymal volume loss, whereas magnetic resonance spectroscopy suggested neuronal injury and hypomyelination. This case provides compelling evidence for a slowly progressive neurodegenerative process in patients with infantile Pompe disease, affecting the motor neurons. Routine electromyography, nerve conduction studies, and cranial magnetic resonance imaging should be considered to delineate the presence of a neurodegenerative process in infantile-onset Pompe disease.
T Andrew Burrow; Laurie A Bailey; Douglas G Kinnett; Robert J Hopkin
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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 Jun 
Date Detail:
Created Date:  2010-05-17     Completed Date:  2010-08-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  455-8     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Elsevier Inc. All rights reserved.
Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
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MeSH Terms
Brain / pathology*
Disease Progression
Fatal Outcome
Glycogen Storage Disease Type II / pathology,  physiopathology*
Magnetic Resonance Imaging
Muscle Weakness / pathology,  physiopathology*
Muscle, Skeletal / pathology,  physiopathology
Nerve Fibers, Myelinated / pathology*
Respiratory Paralysis / pathology,  physiopathology

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

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