Familial Hemophagocytic Syndrome in A Neonate??- A Rare Case Report

Background Hemophagocytic lymphohistiocytosis (HLH) is a rare life threatening disease of the immune system characterised by proliferation of activated T lymphocytes and macrophages which are morphologically benign. The onset of HLH occurs under the age of 1 year in ~70 % of cases & the estimated incidence is 1.2 cases per million children = 1 in 50, 000 births. It has 2 types Primary/Familial HLH & Secondary HLH which is associated with viral/ bacterial infections or Malignancy like lymphoma. Case report A 26 days old boy presented with fever, poor feeding, jaundice & Pancytopenia. On examination there is hepatosplenomegaly, lymphadenopathy, light coloured hair and a rash. The triglyceride level and serum ferritin were markedly increased & fibrinogen level was reduced. Bone marrow examination showed Hematophagocytosis & lymphohistiocytic proliferation. A diagnosis of HPS was made which was later confirmed by Molecular diagnostic techniques which showed Mutation in PRF1gene. Various studies on HLH gave the conclusions regarding ClinicoPathological features which was very well correlated with this case. Conclusion Familial HPS is a very rare entity. There is a considerable overlap of clinical & pathological findings of Familial HPS & Secondary HPS, Griscelli syndrome & Macrophage activation syndromes possessing a great diagnostic challenge. The very rare nature of the disease & its grave prognosis merits its Reporting.