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 language | English |
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Pages (from-to) | 400-402 |
Number of pages | 3 |
Journal | Journal of Perinatology |
Volume | 16 |
Issue number | 5 |
State | Published - Sep 1996 |