Mucolipidosis I. Roentgenographic follow-up

Abstract

A patient with mucolipidosis I (ML I) is presented. The roentgenographic findings in the skull, hands, ribs, vertebral column, pelvis, and tubular bones are described. Special emphasis is laid on the evaluation of the skeletal alterations during a 13-years follow-up. The similarities to and the differences from the so-called dysostosis multiplex (DM) are outlined. Some peculiarities which may be specific to ML I are discussed. Attention is given to an exceptional feature in our case of this very rare condition, namely, the marked thickening which developed on the frontal portions of the base of the skull, including the sellar region.