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Immune Dysregulation Syndrome Associated with Inborn Errors of Metabolism – Hemophagocytic Lymphohistiocytosis in the Context of Isovaleric Acidemia: A Case Report

2026-02-02

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) remains one of the greatest diagnostic challenges in pediatric critical care because of its high mortality and the complexity of its clinical presentations. We report the case of an 18-month-old boy who presented with persistent fever, a respiratory tract infection, pancytopenia, hepatosplenomegaly, and progressive neurological deterioration, fulfilling the diagnostic crite...

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Literature Corpus work: d8567232-9f1c-5610-8076-6f3faac11421
DOI: 10.20944/preprints202601.2365.v1

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