Abstract
Background
Although mucolipidosis type II has similar metabolic abnormalities to those found in all the mucopolysaccharidoses and mucolipidoses, there are distinctive diagnostic radiographic changes of mucolipidosis II in the perinatal/newborn/infant period.
Objective
To describe the early characteristic radiographic changes of mucolipidosis II and to document when these changes manifest and resolve.
Materials and methods
We retrospectively reviewed radiographs and clinical records of 19 cases of mucolipidosis II from the International Skeletal Dysplasia Registry (1971–present; fetal age to 2½ years). A radiologist with special expertise in skeletal dysplasias evaluated the radiographs.
Results
The most common abnormalities were increased vertebral body height (80%, nonspecific), talocalcaneal stippling (86%), periosteal cloaking (74%) and vertebral body rounding (50%). Unreported findings included sacrococcygeal sclerosis (54%) and vertebral body sclerosis (13%). Rickets and hyperparathyroidism-like (pseudohyperparathyroidism) changes (rarely reported) were found in 33% of cases. These changes invariably started in the newborn period and resolved by 1 year of age. The conversion from these early infantile radiographic features to dysostosis multiplex changes occurred in 41% of cases, and within the first year after birth.
Conclusion
Several findings strongly suggest the diagnosis of mucolipidosis II, including cloaking in combination with one or more of the following radiographic criteria: talocalcaneal stippling, sacrococcygeal or generalized vertebral body sclerosis, vertebral body rounding, or rickets/hyperparathyroidism-like changes in the perinatal/newborn/infancy period. These findings are not found in the other two forms of mucolipidosis nor in any of the mucopolysaccharidoses.
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Acknowledgments
The authors wish to thank Tess Batchelder for her diligent help on the manuscript and the creation of the tables and other associated research.
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The authors wish to dedicate this work to Dr. Walter Berdon, teacher and mentor but especially good friend.
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Lai, L.M., Lachman, R.S. Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol 46, 1713–1720 (2016). https://doi.org/10.1007/s00247-016-3673-0
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DOI: https://doi.org/10.1007/s00247-016-3673-0