I-Cell Disease (Mucolipidosis II) Presenting as Neonatal Fractures: A Case for Continued Monitoring of Serum Parathyroid Hormone Levels.
A severe form of I-cell disease (mucolipidosis II) can present in the newborn period as multiple fractures. The bone disease in these patients is believed to be due to hyperparathyroidism. We report a case where bone disease was present at birth but the parathyroid hormone levels were initially normal and did not increase until 37 d of age. Supplemention with vitamin D was needed to normalize the parathyroid hormone levels despite adequate intake of vitamin D, calcium and phosphorus. We suggest that in patients with I-cell disease, continued evaluation for hyperparathyroidism may be necessary despite initial normal parathyroid hormone levels.
Departments of Medical Genetics and Pediatrics, University of Calgary, Alberta Children's Hospital, Alberta, Canada.
Aneal
A
Khan
Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Alberta, Canada.
Josephine
J
Ho
Department of Pediatrics, McMaster Children's Hospital, Ontario, Canada.
Amy
A
Pender
Department of Radiology, University of Calgary, Alberta Children's Hospital, Alberta, Canada.
Xingchang
X
Wei
Departments of Pathology and Molecular Medicine, Health Sciences Centre, McMaster University, Ontario, Canada.
Murray
M
Potter
I-cell disease; hyperparathyroidism; mucolipidosis II; rickets; vitamin D