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Review
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Korean J Med. 2006;71(1):284-284.
- A Case of Glycogen Storage Disease with Hypertrophic Cardiomyopathy
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김동희&#;강상욱&#;박원종&#;장경애&#;최준혁 &#;김웅&#;홍그루
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- A Case of Glycogen Storage Disease with Hypertrophic Cardiomyopathy
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1Department of Internal Medicine, Hanyang University College of Medicine, Seoul; 2Department of Life Science, Postech Biotech Center, Pohang University of Science and Technology, Pohang, Korea
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- Abstract
- Glycogen storage diseases are heterogeneous group of metabolic disorder affecting in liver, skeletal muscle, heart, brain, etc.
Clinical feature are short status, hepatomegaly,hypoglycemia, dyslipidemia, etc. Rarely involving myocardium, but Type II (Acid
maltase deficiency), type III (debranching enzyme deficiency), type IV(branching enzyme deficiency) and type V
(myophosphoylase deficiency) involve myocardium.These glycogen storage diseases are usually diagnosed in inborn or childhood
and poor outcome. Except type III, glycogen storage disease with hypertrophic cardiomyopathy in adult are extremely rare! We
experience a case that unknown cause hypertrophic cardiomyopathy with hepatomegaly patient was diagnosed glycogen storage
disease.; a 46-year old women was transferred by dyspnea on exertion and abnomal LFT. She was diagnosed hypertrophic
cardiomyopathy by echocardiography but there was non sepecific cause of hypertrophic cardiomyopathy.
Furthermore,hepatopathy cause was undetectable though evaluation of liver. For the last time, the patient was performed liver
biopsy.(figure:swollen hepatocyte with pyknotic nuclei and rarefied cytoplasm and steastosis, macrovesicular are shown (PAS,Χ
100).) The result is glycogen storage disease possible type III, IV or IX. In conclusion unknown cause hypertrophic
cardiomyopathy and hepatopathy must be consider glycogen storage disease. Key Words: Glycogen storage disease, Hypertrophic
cardiomyopathy, Hepatopathy
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