Radiological features of neonatal mucolipidosis II (I-cell disease): a case report

Abstract

A case of mucolipidosis II (I-cell disease) in the early neonatal period is reported. The infant showed severe skeletal changes including diffuse periosteal new bone formation of long bones and ribs, marked osteopenia, resorption of scapula, clavicula, and mandible, and irregular demineralization of metaphyses of long tubular bones. Early skeletal manifestation of mucolipidosis II is not well known and differentiation from congenital syphilis or congenital hyperparathyroidism may be difficult. In such cases, a radiologist should assist in the diagnosis, and the list of differential diagnoses should include mucolipidosis II.