Hala Abdullatif1, Nabil Mohsen2, Rokaya El-Sayed3, Fatma El-Mougy4, Hanaa El-Karaksy5. 1. Department of Pediatrics, Kasr Alainy Medical School, Cairo University, El Saray Street, El Manial, Cairo 11956, Egypt. Electronic address: halamohsen@kasralainy.edu.eg. 2. Department of Pediatrics, Kasr Alainy Medical School, Cairo University, El Saray Street, El Manial, Cairo 11956, Egypt. Electronic address: mohsennabil2000@yahoo.com. 3. Department of Pediatrics, Kasr Alainy Medical School, Cairo University, El Saray Street, El Manial, Cairo 11956, Egypt. Electronic address: rokaya_mohsen@kasralainy.edu.eg. 4. Department of Clinical and Chemical Pathology, Kasr Alainy Medical School, Cairo University, El Saray Street, El Manial, Cairo 11956, Egypt. Electronic address: fatma.elmougy@kasralainy.edu.eg. 5. Department of Pediatrics, Kasr Alainy Medical School, Cairo University, El Saray Street, El Manial, Cairo 11956, Egypt. Electronic address: hanaakaraksy@kasralainy.edu.eg.
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 acute 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 triglyceride 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 ferritin levels, and low fibrinogen levels were present in all patients. The fourth patient had a serum ferritin level >10,000ng/ml, favouring the diagnosis of HLH, despite fulfilling 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.
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 acute 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 triglyceride 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 ferritin levels, and low fibrinogen levels were present in all patients. The fourth patient had a serum ferritin level >10,000ng/ml, favouring the diagnosis of HLH, despite fulfilling 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.