Two cases of Pompe's disease: case report and review of literature.

Indian Heart Journal
A JegadeeswariS Balasubramanian

Abstract

Glycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. We are presenting two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy (CMP). The first case was a 1-year-old female child who presented with Ross Class III heart failure (HF) of 3 months duration. Echocardiography (ECHO) showed concentric left ventricular (LV) hypertrophy, with the posterobasal segment more hypertrophic than the inter-ventricular septum and moderate pericardial effusion. The second case was a 2-month-old male child who presented with Ross Class II HF. His ECHO showed eccentric hypertrophy of the posterobasal left ventricle, with thickening of the mitral valve leaflets and the chordae w...Continue Reading

References

Jan 1, 1973·Neurology·A G EngelE H Lambert
Oct 1, 1984·American Heart Journal·L E Alday, E Moreyra
May 6, 2004·The Journal of Pediatrics·Priya Sunil Kishnani, R Rodney Howell
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson

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Citations

Jun 25, 2014·World Journal for Pediatric & Congenital Heart Surgery·Soumya PatraManjunath Cholenahally Nanjappa
Mar 17, 2018·Neurology India·Neetu RamrakhianiAnkit Bansal
Mar 23, 2018·Ultrastructural Pathology·Aanchal KakkarChitra Sarkar
Mar 8, 2017·Journal of Neurodegenerative Diseases·Y SifiA Hamri
Nov 15, 2016·Frontiers in Physiology·Jessica KrakerSakthivel Sadayappan

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