There are several known forms of congenital erythrocytosis. Secondary forms are usually associated with increased erythropoietin levels and recognize heterogeneous genetic basis. Despite the use of NGS technologies, more than 50% of congenital erythrocytosis cases are still classified as idiopathic. Identifying the underling molecular cause appears to be crucial when a therapeutic option is available, especially if erythrocytosis is combined with progressive dysfunction of other organs. Herein, we describe the case of a patient with a rare form of congenital erythrocytosis due to bi-allelic mutations of SLC30A10 gene, responsible for a rare disease known as hypermanganesemia with dystonia 1 (HMNDYT1).

We report 2 cases of infants with acute and persistent Immune Thrombocytopenic Purpura (ITP) treated with Eltrombopag. Since ITP is rare in infants, robust evidence about how to treat these patients is not available. Both children underwent multiple lines of treatment without success and were successfully managed with off-label use of Eltrombopag. We did not observe any of the reported adverse effects of the drug and complete remission was achieved in both cases. In one child, we were able to discontinue treatment without any ITP relapse. This is the first report of an off-label use of Eltrombopag in infants.