The Unlikely Combination: Anderson-Fabry Disease and Congenital Dyserythropoietic Anemia Type Ii in a Pediatric Patient

Abstract

Anderson- Fabry disease (AFD) is a rare condition, characterized by a lysosomal storage disorder affecting lipid storage. It manifests in two forms: classic (early- onset) and nonclassic (late- onset). Conversely, congenital dyserythropoietic anemia (CDA) is a rare blood disorder caused by ineffective erythropoiesis, which results in the production of abnormal erythroblasts during the maturation of red blood cells, with CDA type II being the most frequent type. Both disorders have well- understood pathophysiologies, yet they are genetically distinct. AFD is inherited in an X- linked manner, whereas CDA type II follows an autosomal recessive pattern of inheritance. Although both AFD and CDA type II have been reported separately in the literature. The co- existence for both AFD and CDA type II has not been reported. We describe a 10- year- old boy, with both which is believed to be the first documented case.