ABSTRACT
Background and study aim: Haemophagocytic lymphohistiocytosis [HLH] is a life-threatening clinical syndrome with liver involvement varying from mild dysfunction to severe fulminant failure. The aim of this study was to present a case series of four HLH patients presenting with acuw liver failure [ALF] in the neonatal period
Patients and methods: All four patients were neonates at the onset of symptoms. They presented to Cairo University Pediatric Hospital with ALF; they underwent prompt investigations including determination of ferritin, fibrinogen, and higlyceride levels as part of our ALF workup. Further investigations were tailored according to the associated clinical features and the results of preliminary investigations
Results: HLH was diagnosed according to HLH-2004 criteria. Three patients fulfilled at least five out of eight criteria. Fever, splenomegaly, elevated ferktin levels, and low fibrinogen levels were present in all patients. The fourth patient had a serum ferritin level >10,000 nglml, favouring the diagnosis of HLH, despite fullilling only four out of eight criteria. For three patients, positive consanguinity and previous sibling death were reported, suggesting a genetic aetiology of HLH
Conclusion: ALF can be the presenting feature of HLH; thus, a high index of suspicion is necessary. Fever is a hallmark, especially in neonates. Diagnosis is important for this potentially treatable condition