Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases

Abstract

Three unrelated southern Italian children manifested I-cell within the first month of life, but it was not recognized initially. Radiologic findings of osteopenia, subperiosteal new bone formation and resorption, and irregular metaphyses suggested systemic bone disease. Premature suture synostosis was evident at age 2-4 weeks. Review of the literature and experience with these cases establish these findings as valuable and specific clue to the diagnosis of I-cell disease. By 6-10 months of age, the clinical and radiologic features were similar to those in Hurler syndrome. Cardiorespiratory death occurred in two cases.