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Washington University Experience | METABOLIC | Mucopolysaccharidosis | 5A0 Case 5 History
Case 5 History ---- This 20 year old patient was diagnosed as having mucopolysaccharidosis, type VII (Sly syndrome) when he presented to SLCH with hypertelorism, small epicanthal folds, a depressed nasal bridge, hepatosplenomegaly, an umbilical hernia and a thoracolumbar gibbus. Skin fibroblasts showed a beta glucuronidase deficiency. A skeletal series showed changes common in classical mucopolysaccharidoses. He had multiple episodes of pneumonia. His IQ was diminished in the range of 50-60 at age 12 years. He developed fine punctate corneal opacities peripherally. Hearing was diminished later in his course. Aortic and mitral valve thickening and distortion were identified. His neurologic evaluation showed no focal abnormalities and at 12 years had enlargement of the skull, brain and ventricles. At autopsy his brain weighed 1260 grams.
