Mucolipidosis Type II (I-Cell Disease)

Date

2016-03-23

Brautbar, Ariel

Hamilton, Luke

Wilson, Don

Our case is unusual because ML II does not generally present with fractures. This case demonstrates the importance of considering ML II in infants presenting with in-utero fractures.
Athena was used to access the patient's medical chart to collect information on this case presentation.
We describe a 10-month-old, Hispanic male of non-consanguineous parents with a history of in- utero fractures. In addition to multiple fractures, osteopenia, congenital heart defect, and jaundice were also present. The infant’s clinical presentation initially suggested osteogenesis imperfecta (OI), however genetic testing found no evidence of known mutations of OI. A careful review of the skeletal survey was suspicious for ML II, and further genetic sequencing at approximately 5 months of age confirmed the diagnosis.
Currently, there is no cure for ML II. Treatment focuses on palliative care including physical therapy to alleviate joint stiffness, speech therapy to assist in language acquisition, and surgery to correct conductive deafness. Continued research is needed to reduce morbidity and improve mortality.