I-cell disease: A clinical picture

Abstract

Eight patients are presented who have a particular type of “Hurler”-like bodyconfiguration, severe skeletal dysplasia, severe psychomotor retardation, and normal urinary excretion of acid mucopolysaccharides, constituting in the sum a new entity, here designated as “I-cell” disease (or mucolipidosis II). The condition is evident from birth, with gradual accentuation of clinical features, complicated by respiratory infections, and with a fatal outcome. Familial occurrence in two instances and parental consanguinity in one, make autosomal recessive mode of inheritance most likely. Fibroblasts of these patients show an abundance of special cytoplasmic inclusions (“I cells”), have numerous deficiencies in lysosomal hydrolases, and contain excessive amounts of lipids and mucopolysaccharides. Results obtained on analysis of liver and brain specimens have less notable abnormalities. The pathogenesis of this new syndrome remains unknown. It must be differentiated especially from the Hurler's disease, GM1-gangliosidosis type 1, and lipomucopolysaccharidosis. Eight patients are presented who have a particular type of “Hurler”-like bodyconfiguration, severe skeletal dysplasia, severe psychomotor retardation, and normal urinary excretion of acid mucopolysaccharides, constituting in the sum a new entity, here designated as “I-cell” disease (or mucolipidosis II). The condition is evident from birth, with gradual accentuation of clinical features, complicated by respiratory infections, and with a fatal outcome. Familial occurrence in two instances and parental consanguinity in one, make autosomal recessive mode of inheritance most likely. Fibroblasts of these patients show an abundance of special cytoplasmic inclusions (“I cells”), have numerous deficiencies in lysosomal hydrolases, and contain excessive amounts of lipids and mucopolysaccharides. Results obtained on analysis of liver and brain specimens have less notable abnormalities. The pathogenesis of this new syndrome remains unknown. It must be differentiated especially from the Hurler's disease, GM1-gangliosidosis type 1, and lipomucopolysaccharidosis.