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

Authors : Saiprasad Onkareshwar Kavthekar, Namburu Sravanthi, Priti Bhimrao Kamble, Anil Bapurao Kurane, Rupali Naidu, Vilas Maruti Jadhav

DOI : 10.18231/j.ijmpo.2022.030

Volume : 8

Issue : 3

Year : 2022

Page No : 132-134

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.
 

Keywords: Children, Familial Hemophagocytic lymphohistiocytosis, Neurological presentation


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