ABSTRACT
Imerslund-Gräsbeck syndrome is an autosomal recessive disorder of vitamin B12 malabsorption presenting with megaloblastic anemia and mild proteinuria in childhood. The disorder is caused by biallelic pathogenic variants in the CUBN or AMN genes, which encode proteins involved in B12 absorption. We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers. His megaloblastic anemia was overlooked leading to unnecessary invasive testing. Findings on bone marrow biopsy prompted investigation for genetic disorders of B12 metabolism. Exome sequencing uncovered 1 known pathogenic variant and 1 novel likely pathogenic variant in CUBN, confirming the diagnosis of Imerslund-Gräsbeck syndrome.
Subject(s)
Anemia, Megaloblastic , Pancytopenia , Vitamin B 12 Deficiency , Anemia, Megaloblastic/genetics , Female , Humans , Infant , Malabsorption Syndromes , Male , Pancytopenia/genetics , Proteinuria , Vitamin B 12/metabolism , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/geneticsABSTRACT
E-cigarette-and vaping-associated lung injury (EVALI) is a new diagnosis with at least 2,807 hospitalizations and 68 deaths since 2019. This clinical observation describes one of the first cases of EVALI in a teenager who presented with nic-sick symptoms and developed acute respiratory distress syndrome and pneumomediastinum. The manuscript also reviews the presentation, work-up, recommended management, and proposed etiology of the condition and summarizes recent national vaping regulations enacted to address the EVALI epidemic.
