Hypertrophy cardiomyopathy: A case of infantile-onset Pompe disease in cardiac magnetic resonance findings
نویسندگان
چکیده
There are two clinical types of Pompe disease: infantile-onset and late-onset, while the former is much more severe.We reported a typical case disease in 9-month infant who presenting with repeated pneumonia, growth retardation hypomyotonia, hepatomegaly, accompany elevated serum creatine kinase liver transaminase. Cardiac magnetic resonance (CMR) showed marked hypertrophy both ventricles including septum, extensive myocardial late enhancement. The gene testing result was confirmed finaly. Familiarity imaging findings can aid making an accurate diagnosis determining appropriate treatment.
منابع مشابه
infantile-onset pompe disease
how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf. refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...
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Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare autosomial recessive disease due to deficiency of lysosomal acid alpha-glucosidase (GAA). The infantile-onset form is the most severe, and most patients present with hypotonia and cardiomyopathy in early infancy. We report on a typical case of Pompe disease in a patient who died at 8 months of age due to aspiratio...
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ژورنال
عنوان ژورنال: Heliyon
سال: 2023
ISSN: ['2405-8440']
DOI: https://doi.org/10.1016/j.heliyon.2023.e18330