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

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Case Report

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

Volume : 8, Issue : 3, Year : 2022

Article Page : 132-134

https://doi.org/10.18231/j.ijmpo.2022.030

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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.
 

Keywords: Children, Familial Hemophagocytic lymphohistiocytosis, Neurological presentation

How to cite : Kavthekar S O, Sravanthi N, Kamble P B, Kurane A B, Naidu R, Jadhav V M, Familial Hemophagocytic Lymphohistiocytosis (Type 2) with solitary neurological presentation due to PRF1 gene mutation. IP Int J Med Paediatr Oncol 2022;8(3):132-134

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