The infantile-onset form of Pompe disease: an autopsy diagnosis
DOI:
https://doi.org/10.4322/acr.2015.022Keywords:
Autopsy, Glycogen Storage Disease Type II, GAA protein, human, Cardiomyopathy, DiagnosisAbstract
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disabling disease with cardiomegaly, hepatomegaly, weakness, generalized hypotonia, and death within the first year of life, to a mild presentation characterized by slowly progressive myopathy predominantly involving the skeletal muscles. The laboratory diagnostic gold standard is represented by the determination of the alphaglucosidase activity. However, the muscle histology may also yield the diagnosis by evaluating the tissular glycogen accumulation. Until recently, supportive measures constituted the unique available therapy. Currently, the administration of the recombinant GAA is being used with promising results. The authors present the case of a 5-month-old boy, previously diagnosed with hypertrophic cardiomyopathy since the age of 2 months, who presented acute heart failure accompanied by biventricular dilation followed by refractory shock and death. The autopsy findings confirmed the glycogen-accumulation diseaseDownloads
Download data is not yet available.
Downloads
Published
2015-12-10
Issue
Section
Article / Autopsy Case Report
License
Copyright
Authors of articles published by Autopsy and Case Report retain the copyright of their work without restrictions, licensing it under the Creative Commons Attribution License - CC-BY, which allows articles to be re-used and re-distributed without restriction, as long as the original work is correctly cited.
How to Cite
Santos, O. C. C. dos. (2015). The infantile-onset form of Pompe disease: an autopsy diagnosis. Autopsy and Case Reports, 5(4), 45-51. https://doi.org/10.4322/acr.2015.022