Neonatal Mucolipidosis II (I-Cell Disease) with Dysharmonic Epiphyseal Ossification and Butterfly Vertebral Body

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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.

Original languageEnglish
Pages (from-to)400-402
Number of pages3
JournalJournal of Perinatology
Volume16
Issue number5
StatePublished - Sep 1996

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