Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?

Year 2016, Volume: 7 Issue: 27, 0 - 0, 30.09.2016

Kaba Sultan , Murat Doğan , Keziban Aslı Bala Kaan Demirören , Nihat Demir , Nesrin Ceylan

https://doi.org/10.17944/mkutfd.41900

Abstract

Gaucher’s disease-related hypoparathyroidism is a condition that hasn’t been previously described. Here, we presented a ten years old boy referred to our clinic due to hypocalcemic convulsion who was found to have splenomegaly, bicytopenia and hypoparathyroidism. Gene muatation analysis was result in two mutation; (c.(1192C>T);(1226A>G) and p.(Arg359Term);(Asn370Ser). In the context of this patient with Gaucher’s disease, we will discuss whether this association is co-incidence or a novel finding.

Keywords: Gaucher’s diease, Hypoparathyroidism, child

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