Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder. ML II is usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex.