Nisha Bhaskar Meshramm1 , Rasika Uday Gadkari2 , Fatema Akbar Kamal3
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.
