Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder presenting severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusion-dependant male newborn who required an intrauterine transfusion and presented at birth with severe hemolytic anemia. Genetic testing rapidly identified a KLF1 gene mutation, a CDAIV variant. This case highlights the advantages of next-generation sequencing testing for congenital hemolytic anemia: diagnostic speed, guidance on natural history, and optimized clinical management and anticipatory guidance for parents and clinicians. We reviewed the literature for all CDAIV cases.

Central nervous system (CNS) relapse in pediatric acute lymphoblastic leukemia (ALL) patients is uncommon. The cerebrospinal fluid (CSF) of patients with ALL is routinely sampled at each intrathecal chemotherapy treatment to screen for CNS relapse, which is both time-consuming and resource-intensive and must be completed approximately 30 times per patient throughout treatment. Our objective was to examine the cost-effectiveness of the routine screening on all CSF samples for CNS relapse in ALL patients, and to identify if CNS relapse can be detected clinically. We identified all patients diagnosed with ALL at the Children’s Hospital of Eastern Ontario (CHEO) between January 2001 and June 2021. We collected the total number of CSF samples in these patients and the number of CSF samples positive for CNS relapse. An in-depth chart review on the patients who relapsed in the CNS was completed to identify their symptoms at relapse. Over the study period, 351 patients were diagnosed with ALL and underwent a total of 6515 LPs, each of which examined a CSF sample. The cost of CSF sample analysis is $14.32, thus, the total cost for the study sample was $93,294.80. There were 14 CNS relapses and although symptoms including headache, vomiting and fatigue were common, two patients were asymptomatic at relapse. Given the marginal cost of routine CSF screening and the lack of specific and sensitive symptoms for CNS relapse, we conclude that the routine practice of sending all CSF samples for analysis of CNS relapse in ALL patients is cost-effective and beneficial.