Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body

Abstract

I-cell (mucolipidosis 2) is a rare, autosomal recessive neurodegenerative lysosomal storage disease. Neonatal skeletal radiographs are distinctive; a transient osteopathy that has features resembling hyperparathyroidism and rickets is present during the first year of life. The case of a 3-week old infant with I-cell disease is presented. Additional radiographic findings in this case include a butterfly vertebral body and dysharmonic epiphyseal ossification.