The interesting reports recently published on atypical cases of glycolipidoses prompts us to describe a further I-cell phenomenon in a male child of Italian extraction. Typical face, x-ray films of the skeleton, mental retardation and slight opacities in the cornea favored a diagnosis of mucopolysaccharidosis. Yet the excretion of acid mucopolysaccharides in the urine was never increased.1 Liver biopsies failed to show a marked storage.2 White blood cells did not show typical vacuoles. Repeated analysis of the lysosomal enzymes in liver biopsies showed diminished activities of acid D-β-galactosidase,3 as in classic mucopolysaccharidoses. The child died of bronchopneumonia.
ASJC Scopus subject areas