Early pathologic changes and responses to treatment in patients with later-onset Pompe disease

Pediatric Neurology
Yin-Hsiu ChienWuh-Liang Hwu

Abstract

The treatment of later-onset Pompe disease with enzyme replacement therapy may not lead to significant improvement in muscle function, probably because of the irreversible muscle destruction caused by glycogen storage. A prospective study was performed to understand early muscle pathology in patients and the response of these pathologic changes to treatment. Five newborns and one child with later-onset Pompe disease but no signs at time of diagnosis were prospectively followed, and treatment was initiated when signs appeared. Six pretreatment biopsies taken at ages 1.5 months to 7 years indicated glycogen storage, lipid storage, stage 4 myocytes, and autophagic debris. Four 6-month posttreatment biopsies revealed glycogen clearance, but stage 4 myocytes and autophagic debris were still evident in three. In conclusion, among patients with later-onset Pompe disease and very mild signs, advanced pathologic changes were evident in a small portion of their myocytes. Because these pathologic changes may not respond to treatment, early treatment is necessary to achieve the best outcomes.

References

Jan 8, 2005·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Colleen M LynchBeth L Thurberg
Sep 1, 2005·Journal of Neurology·Léon P F WinkelAns T van der Ploeg
Jul 24, 2007·Neuromuscular Disorders : NMD·Wolfgang Müller-FelberBenedikt Schoser
May 30, 2008·Neuromuscular Disorders : NMD·C I van CapelleA T van der Ploeg
Sep 26, 2008·Muscle & Nerve·John H J WokkePascal Laforet
Oct 22, 2008·Molecular Genetics and Metabolism·Laura E CasePriya S Kishnani
Mar 17, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marc NicolinoPriya S Kishnani
May 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Lara R DeRuisseauBarry J Byrne
Sep 25, 2009·Molecular Genetics and Metabolism·Priya S KishnaniY-T Chen
Jan 15, 2011·The Journal of Pediatrics·Yin-Hsiu ChienWuh-Liang Hwu

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Citations

Feb 5, 2013·Journal of Biomedical Optics·Wenhua LiuEvelyn Ralston
Sep 24, 2019·Neuropathology and Applied Neurobiology·M KulessaA Schänzer
Sep 22, 2017·Diseases·Joaquin Bobillo LobatoLuis M Jiménez Jiménez

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