Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II Academic Article uri icon

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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

  • Eminoglu, Tuba Fatma
  • Özkan, Mehpare
  • Igdoura, Suleiman
  • Dursun, Arzu
  • Zenciroğlu, Ayşegül

publication date

  • January 1, 2013