Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal entity with an incidence rate of 1.2 cases per million people per year. HLH is explained as a highly destructive inflammatory consequence of rampant hypercytokinemia due to excessive lymphocyte-mediated activation of macrophages and histiocytes. Primary HLH is a product of genetic dysfunction and could be familial (five subtypes), syndromic immunodeficiency, or as a consequence of mutations predisposing a person to Epstein Barr Virus (EBV) infection. With secondary HLH, there is an identifiable cause provoking the inflammatory reaction, whether it is an infection, an autoimmune disease, or malignancy (particularly hematological). As a result of widespread cytokine deposition, systemic manifestations are seen with a variety of manifestations that can vary between cases. This is a case of a patient who initially presented to the emergency department with fever, altered mentation, and gastroenteritis. Initial investigations showed non-anion gap metabolic acidosis, high white cell count, and deteriorating renal function. Further laboratory tests, bone marrow biopsies, and neurological imaging were conducted throughout the course of admission as the patient further deteriorated systemically. However, it's important to note the abundant neurological manifestations with a worsening level of consciousness and seizures, some of which were categorized as status epilepticus.
Keywords: general pediatrics; genetics; hematology; neurology; pediatric critical care medicine; pediatric intensive care unit; seizures; status epilepticus.
Copyright © 2020, Nassar et al.