title: Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.
abstract: The phenotype of mucolipidosis type II (ML II), a disorder of lysosomal enzyme transport, includes mucopolysaccharidosis type I (Hurler syndrome)-like features and dysostosis multiplex, usually apparent after 6 months of age. We describe here the natural history of neonatal hyperparathyroidism, a recently described presentation of ML II. A female neonate presented with multiple fractures and radiological features of osteopenia and 'rickets-like' changes. Longitudinal evaluation, while the patient was treated with vitamin D 800-3,000 IU/day orally, indicated secondary hyperparathyroidism which resolved, biochemically and radiologically, by age 4 months. Neonatal hyperparathyroidism in ML II is severe, transient, and probably secondary to impaired placental calcium transport, simulating a condition observed in the offspring of chronically hypocalcemic mothers.
authors.affiliation: Medicine/Pediatrics, Newark Beth Israel Medical Center, NJ, USA.
authors.forename: Anpalakan
authors.initials: A
authors.lastname: Sathasivam
authors.forename: Luigi
authors.initials: L
authors.lastname: Garibaldi
authors.forename: Robyn
authors.initials: R
authors.lastname: Murphy
authors.forename: Jennifer
authors.initials: J
authors.lastname: Ibrahim
mesh_terms: D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging; D002118:Calcium / Q000172:deficiency; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging; D006801:Humans; D006962:Hyperparathyroidism, Secondary / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D007231:Infant, Newborn; D009081:Mucolipidoses / Q000175:diagnosis*; D011859:Radiography; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D014807:Vitamin D; D002118:Calcium