Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.

@article{Sathasivam2006TransientNH,
  title={Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.},
  author={Anpalakan Sathasivam and Luigi Garibaldi and Robyn C. Murphy and Jennifer Ibrahim},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2006},
  volume={19 6},
  pages={859-62}
}
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… CONTINUE READING