Abstract
Haemophagocytic Lympho-Histiocytosis (HLH) includes variety of life-endangering conditions caused due to defective immunity and represented as uncontrolled hyperinflammatory response. HLH is mostly instigated by infection. Familial form is due to genetic defects in cytotoxic T cells & natural killer cells. HLH mostly goes unrecognized, and hence has high morbidity and mortality. Prompt diagnosis is critical to ensue curative treatment. Diagnosis of familial Haemophagocytic Lymphohistiocytosis is ellusive due to variable presentation, coexistence with other diseases, & select availability of confirmatory tests. We present a case of a 3-yearold girl child, with organomegaly, fever and pancytopenia diagnosis could not be reached for a long period.
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