Familiar hemophagocytical lymphohistiocytosis.A case report

Abstract

The hemophagocytic syndrome, also known as macrophage activation syndrome or reactive histiocitosis, is a heterogeneous nosological entity that was described more than 60 years ago. Its etiology isstill unknown, but it has been related to a decontrol and exaggerated response of the immunological system. It has a 1-2 incidence forevery million children without predominance of age or sex. The clinical manifestations include the presence of a febrile syndrome,hepatosplenomegaly, coagulation alterations, hepatic dysfunction,neurological disorders and multiple organic failures. Paraclinicalstudies show pancitopenia and a clear hemophagocytosis especiallyin bone marrow aspirate smear. The treatment can vary, dependingon the triggering cause, and the prognosis also will depend directlyupon the kind of hemophagocytic syndrome involved. Average deathrate can be 60%. It was presented a case of a male 7 month old still on milk child who after of presenting several infections, is admitted in the Hospital due to a serius sepsis product of a Pneumonia, the Complete Blood Count reveled severe decrease of all the hemopoietic lines being diagnosed with Secondary Hemophagocytic syndrome, it was ordered a genetic study and the doctor acted in consequence of the disease, the patient didn´t respond to the treatment and died days before, arriving postmortem the genetic diagnose of Familiar hemophagocyticlymphohistiocytosis.