Hurler’s disease—an illustrative case report

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HURLER’S disease is the most common and also the most severe form of the mucopolysaccharidoses, a group of inherited diseases characterized by abnormalities in acid mucopolysaccharide (AMP) metabolism. The metabolic fault causes an excess of one or more types of AMP to appear in the serum,1 the urine,2 and tissues.3 A comprehensive classification of the mucopolysaccharidoses, based on clinical, genetic, and biochemical characteristics, has emerged as a result of the studies by McKusick and his associates (Table 1).4

This paper concerns a clinicopathologic study of a patient with Hurler’s disease. Emphasis is placed on those studies that were most helpful in diagnosis and in revealing the underlying biochemical abnormality.

Report of a Case

A 10-month-old Caucasian girl was first examined at the Cleveland Clinic Hospital on May 15, 1966, because of a hump on the back. She was the only child of healthy parents. No known consanguinity existed between the parents. Pregnancy and delivery had been normal and at birth the patient weighed 8 pounds 6 ounces and was 20 inches long. At 8½ months she sat unassisted, and at 10 months she stood with support. On physical examination, the patient had the characteristic appearance of Hurler’s disease: thick dark eyebrows joined in the midline, eyelashes exceptionally long and dense, definite corneal clouding, flatness of the nose exaggerated by unusually prominent supraorbital ridges, thick lips, a large tongue, and no teeth. The upper and lower extremities were short and plump; the hands were clawed, with broad palms, and short stubby. . .



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