1. Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.
- Author
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Del Borrello G, Guardo D, Micalizzi C, Ceccherini I, Miano M, Gattorno M, and Dufour C
- Subjects
- Abnormalities, Multiple, Anemia, Hemolytic, Congenital blood, Anemia, Hemolytic, Congenital drug therapy, Atrophy diagnostic imaging, Atrophy drug therapy, Blood Transfusion, Brain diagnostic imaging, Brain pathology, C-Reactive Protein analysis, Chronic Disease, Developmental Disabilities drug therapy, Facies, Failure to Thrive drug therapy, Fever urine, Hepatomegaly diagnostic imaging, Hepatomegaly drug therapy, High-Throughput Nucleotide Sequencing, Humans, Infant, Lymphadenopathy drug therapy, Male, Pancytopenia, Phenotype, Rare Diseases blood, Rare Diseases drug therapy, Reticulocyte Count, Splenomegaly diagnostic imaging, Splenomegaly drug therapy, Syndrome, Adaptor Proteins, Signal Transducing genetics, Cytoskeletal Proteins genetics, Hemolysis drug effects, Interleukin 1 Receptor Antagonist Protein therapeutic use, Rare Diseases genetics
- Abstract
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 a unique case of PAMI syndrome in a toddler with transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, developmental delay, and multiple malformations. Because of acute inflammatory-driven decompensation, anakinra was started with dramatic improvement of both the hematologic and neurologic involvement. A customized next-generation sequencing panel later identified a de novo pathogenic variant in the PSTPIP1 gene, confirming the diagnosis. Our case illustrates the broad spectrum of phenotypes associated with PAMI syndrome, which should be considered in any case of unexplained cytopenias associated with autoinflammatory stigmata. It is also one of the few reports of neurologic involvement in PSTPIP1 -associated inflammatory diseases. Increased awareness of this rare disease and early performance of genetic testing can correctly diagnose PAMI syndrome and prevent disease complications., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2021 by the American Academy of Pediatrics.)
- Published
- 2021
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