Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II

EMİNOĞLU F. T., Ozkan M., Igdoura S., Dursun A., Zenciroglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.26, no.7-8, pp.767-769, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 7-8
  • Publication Date: 2013
  • Doi Number: 10.1515/jpem-2012-0329
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.767-769
  • Keywords: hyperparathyroidism, neonate, sialidosis type 2, MUCOLIPIDOSIS TYPE-II, CELL DISEASE
  • Ankara University Affiliated: Yes

Abstract

Sialidosis is a lysosomal storage disease caused by deficiency of alpha-N-acetyl neuraminidase-1. Sialidosis is classified into two main clinical variants: type I, the milder form of the disease, and type II, which can in turn be subdivided into three forms: congenital, infantile, and juvenile. We report a female patient with sialidosis type II, presenting with the congenital form of the disease with thrombocytopenia, pulmonary interstitial thickening, and transient secondary neonatal hyperparathyroidism.