Cloaked bones in Mucolipidosis II - A periosteal reaction in newborns

Abstract

On routine, antenatal ultrasound evaluation of a women at 35 weeks gestation showed a fetus (Case 1) with shortening of all the long bones (<5th percentile) with bowing and fuzzy margins. The baby was delivered full term. On physical examination, the baby had a fragile skull, narrow thorax, and short angulated limbs. Postnatal infantogram showed short long bones, periosteal cloaking, fractures, and bell shaped thorax. Another fetus (Case 2) with antenatal ultrasound done elsewhere was suggestive of short and bowed femur. At birth, the baby had angulated limbs. The infantogram shows the periosteal cloaking (thick periosteal reaction) and short long bones similar to the above-mentioned case. Both babies were positive for the I-cell screening test for Mucolipidosis II. Case 1 was confirmed for the same with whole exome sequencing.