Hemophagocytic Lymphohistiocytosis Presenting as Neonatal Cholestasis: A Case Report

. Hemophagocytic lymphohistosis (HLH) is a life-threatening clinical syndrome that involves liver dysfunction and can range from mild dysfunction to severe fulminant insufficiency. Cholestasis, which is a frequent finding in many severe newborn illnesses, may also be a symptom of HLH. Therefore, HLH should be considered in the differential diagnosis of all cholestatic patients with cytopenia. In this report, we identified a case of HLH with cholestasis. The patient met at least seven out of the eight requirements of the HLH-2004 criteria. The infant had a stable fever, jaundice (conjugated hyperbilirubinemia), cytopenia, elevated liver enzymes, high ferritin, low fibrinogen, and triglyceride. Although urine, blood, and cerebrospinal fluid (CSF) culture tests were negative, CSF analysis revealed 80 WBCs, including 68% polymorphonuclear neutrophils (PMNs), more than 100000 RBCs, 71 mg/dL sugar, 82 mg/dL protein and 102 U/L lactate dehydrogenase. Coagulation tests and TORCH screen were normal. We confirmed the diagnosis of HLH with a bone marrow aspiration test and started treatment with dexamethasone. An intravenous dose of dexamethasone (4 mg) was administered, followed by 1.5 mg daily with pressure control, which stopped the fever after 24 hours.

Case report:

 The patient was a 21-day-old infant with a birth weight of 3450 g. He developed fever and jaundice 10 days after a normal delivery, and he was referred to Sarakhs Hospital when he was 14 days old and hospitalized for 3 days. Later, he was sent to Ghaem Hospital and admitted to the Neonatal Intensive Care Unit. The infant had a stable fever, jaundice (conjugated hyperbilirubinemia), cytopenia, elevated liver enzymes, high ferritin, low fibrinogen, and triglyceride. According to his mother, there was no history of any problems from birth, and the baby's jaundice started after the first week. Examinations showed abdominal distention and hepatosplenomegaly. Due to neonatal cholestasis and fever, he underwent a complete sepsis workup with vancomycin and cefotaxime. Although urine, blood, and cerebrospinal fluid (CSF) culture tests were negative, CSF analysis revealed 80 WBCs, including 68% polymorphonuclear neutrophils, more than 100000 RBCs, 71 mg/dL sugar, 82 mg/dL protein, and 102 U/L lactate dehydrogenase. Coagulation tests and TORCH screen were normal. We confirmed the diagnosis of hemophagocytic lymphohistiocytosis (HLH) with a bone marrow aspiration test and started treatment with dexamethasone. An intravenous dose of dexamethasone (4 mg) was administered, followed by 1.5 mg daily with pressure control, which stopped the fever after 24 hours.

HLH is uncommon in the neonatal stage, and aberrant clinical and laboratory findings suggestive of HLH can be found in a variety of conditions. The severity of this condition makes it crucial to get a diagnosis as soon as possible. In the presence of additional variables, such as cytopenia and hyperferritinemia, HLH should be considered in the differential diagnosis of cholestasis in a neonate.