Chronic myeloid leukemia (CML) is rare in children, accounting for 2-3% of pediatric leukemias. We present a case of a 10-year-old with acute appendicitis leading to the incidental discovery of CML. Due to concerns about leukostasis and tumor lysis syndrome, immediate surgical intervention was deferred in favor of medical management with antibiotics and hydroxyurea, followed by appendectomy once the leukocytosis improved. This case highlights the successful use of medical management as a bridge to surgery, providing novel insights into management of co-occurring appendicitis and CML in pediatric patients.

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.