Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I

L Van Den Broek, APCM Backx, H Coolen… - …, 2011 - publications.aap.org
A previously healthy 10-month-old boy was referred to our hospital because of coarse facial
features that were suggestive of lysosomal storage disease. Apart from noisy respiration,
there was no medical history. Elevated levels of urinary glycosaminoglycans and complete
deficiency of leukocyte α-l-iduronidase indicated severe mucopolysaccharidosis type I. A
chest radiograph revealed a markedly enlarged heart, and echocardiography revealed
hypertrophic cardiomyopathy. While hematopoietic stem cell transplantation was being …