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October 1964

Congenital Muscular Hypertrophy: An Association With Increased Urinary Mucopolysaccharides

Author Affiliations

Henry K. Silver, MD, Department of Pediatrics, University of Colorado School of Medicine, 4200 E Ninth Ave, Denver, Colo 80220.; From the Department of Pediatrics, University of Colorado School of Medicine.

Am J Dis Child. 1964;108(4):406-412. doi:10.1001/archpedi.1964.02090010408011

Marked hypertrophy of muscle in infancy is unusual but has been described as a manifestation of a number of disorders. In almost all reported instances, the hypertrophy has involved many muscle groups and has been associated with abnormal function of the muscles. This report describes a 2-year-old girl in whom congenital, symmetrical, localized muscular enlargement was limited to the forearms and tongue. On two occasions during the first 6 months of life, the ratio of acid mucopolysaccharide:creatinine in the urine was elevated. This type of localized muscular hypertrophy in association with an increased excretion of mucopolysaccharides has not been previously reported.

Report of a Case  This Caucasian female was born after an uneventful labor, pregnancy, and delivery to a 23-year-old primigravida. Birth weight was 2,840 gm (6 lb, 4 oz). At birth, it was noted that she had a large tongue and muscular hypertrophy of the forearms; maximum circumference of