Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation

Abstract This report presents the case of a 19-year-old female with longstanding polycythemia identified in childhood and systemic symptoms, including fatigue, reduced appetite, and chronic joint pain. Neurological examination was unremarkable. Genetic testing revealed a homozygous pathogenic variant in the SLC30A10 gene, consistent with hypermanganesemia with dystonia. This condition, an autosomal recessive disorder, typically involves hematological, neurological, and hepatic systems. This case highlights the diagnostic and therapeutic challenges associated with managing systemic features in patients with SLC30A10 mutations.