Mucolipidosis II. The clinical, radiological and biochemical features in three cases

We report on the clinical, radiological and biochemical features of mucolipidosis II in three infants. One with subtle phenotypical findings died at 2 weeks of age without a specific diagnosis. A sibling who died at 2 years of age and another infant, presently 3.5 years of age manifest all the characteristic features of mucolipidosis II: extreme psychomotor delay and failure to thrive, coarse facial features, gingival hyperplasia, joint …