| Acute progression of neuromuscular findings in infantile Pompe disease. | |
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MedLine Citation:
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PMID: 20472203 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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T Andrew Burrow; Laurie A Bailey; Douglas G Kinnett; Robert J Hopkin |
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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: 42 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-08-13 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: 455-8 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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pathology* Disease Progression Electromyography Fatal Outcome Female Glycogen Storage Disease Type II / pathology, physiopathology* Humans Infant 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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