Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare early-onset autoinflammatory disease associated with various hematologic findings, including chronic neutropenia and pancytopenia. We report unique case of PAMI in toddler transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, developmental delay, multiple malformations. Because acute inflammatory-driven decompensation, anakinra was started dramatic improvement both the neurologic involvement. A customized next-generation sequencing panel later identified de novo pathogenic variant PSTPIP1 gene, confirming diagnosis. Our illustrates broad spectrum phenotypes syndrome, which should be considered any unexplained cytopenias stigmata. It also one few reports involvement diseases. Increased awareness this early performance genetic testing can correctly diagnose prevent complications.