Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body.
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.
Herman
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Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA.
McAlister
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WH
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009081:Mucolipidoses / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000503:physiopathology; D009999:Ossification, Heterotopic / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000209:etiology; D011859:Radiography; D013904:Thoracic Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging*