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Acute progression of neuromuscular findings in infantile Pompe disease.
Pediatr Neurol 2010; 42(6):455-8PN

Abstract

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.

Authors+Show Affiliations

Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20472203

Citation

Burrow, T Andrew, et al. "Acute Progression of Neuromuscular Findings in Infantile Pompe Disease." Pediatric Neurology, vol. 42, no. 6, 2010, pp. 455-8.
Burrow TA, Bailey LA, Kinnett DG, et al. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010;42(6):455-8.
Burrow, T. A., Bailey, L. A., Kinnett, D. G., & Hopkin, R. J. (2010). Acute progression of neuromuscular findings in infantile Pompe disease. Pediatric Neurology, 42(6), pp. 455-8. doi:10.1016/j.pediatrneurol.2010.02.006.
Burrow TA, et al. Acute Progression of Neuromuscular Findings in Infantile Pompe Disease. Pediatr Neurol. 2010;42(6):455-8. PubMed PMID: 20472203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acute progression of neuromuscular findings in infantile Pompe disease. AU - Burrow,T Andrew, AU - Bailey,Laurie A, AU - Kinnett,Douglas G, AU - Hopkin,Robert J, PY - 2009/12/04/received PY - 2010/01/21/revised PY - 2010/02/22/accepted PY - 2010/5/18/entrez PY - 2010/5/18/pubmed PY - 2010/8/14/medline SP - 455 EP - 8 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 42 IS - 6 N2 - 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. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/20472203/Acute_progression_of_neuromuscular_findings_in_infantile_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(10)00086-X DB - PRIME DP - Unbound Medicine ER -