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