title: Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II.
abstract: Sialidosis is a lysosomal storage disease caused by deficiency of α-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.
authors.forename: Tuba Fatma
authors.initials: TF
authors.lastname: Eminoglu
authors.forename: Mehpare
authors.initials: M
authors.lastname: Ozkan
authors.forename: Suleiman
authors.initials: S
authors.lastname: Igdoura
authors.forename: Arzu
authors.initials: A
authors.lastname: Dursun
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Zenciroğlu
mesh_terms: D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology*; D007231:Infant, Newborn; D009081:Mucolipidoses / Q000209:etiology*