Mucolipidosis III: two patients displaying genetic pleiotropism
The original publication is available at http://www.samj.org.za
Two Cape Colored siblings with typical features of Hurler's syndrome, but without mucopolysacchariduria or mucopolysaccharide accumulation in tissues, are presented. The clinical features, in conjunction with raised β D galactosidase and α L fucosidase levels in fibroblast cultures from 1 of the patients, suggest the diagnosis of a mucolipidosis. Theories relating to the intracellular deficiency and extracellular excess of lysosomal enzymes in these conditions are reviewed. Phenotypical and cell culture differences between 2 siblings who display the same overall clinical syndrome, illustrate the genetic pleiotropism inherent in this group of diseases.