Familial Hemophagocytic Lymphohistiocytosis (Type 2) with solitary neurological presentation due to PRF1 gene mutation

Abstract

Familial hemophagocytic lymphohistiocytosis (FHLH) clinically manifest with fever, hepatosplenomegaly, pancytopenia, hyperferritenemia, hypofibrinogenemia and/or neurological signs. We report a case of solitary neurological presentation and absence of systemic signs of inflammation which was initially thought to be genetic leukodystrophy but latter turn out to be FHLH type 2 due to mutation in PRF1 gene. Pediatricians should keep FHLH as a differential diagnosis in a patient with solitary neurological presentation due to neuroinflammation even if no signs of systemic inflammation or abnormal laboratory parameters.