Awareness of Hemophagocytic Lymphohistiocytosis as an Unusual Cause of Liver Failure in the Neonatal Period.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome that predominantly affects infants from birth to 18 months of age, characterized by fever and multiorgan failure. Liver injury has been rarely reported as a presenting sign in the neonatal period. This study reports a case with HLH in the neonatal period who presented with acute liver failure. CASE PRESENTATION: Herein, a 3-day-old female newborn was admitted with cytopenia, increased liver enzymes, hypofibrinogenemia, and markedly elevated serum ferritin. Hemophagocytosis of bone marrow biopsy confirmed the diagnosis of HLH. The newborn was treated with HLH-2004 protocol, but she finally died from multiorgan failure. CONCLUSION: Growing awareness of HLH as a cause of liver failure in the neonatal period can be associated with early treatment and reduces mortality in this group of patients.

Clinical and genetic features in patients with cystic fibrosis in southwestern iran.

OBJECTIVE: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory (CFTR) gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran. METHODS: Twenty nine common CFTR gene mutations were examined in 45 CF patients. FINDINGS: Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was ΔF508, with an allele frequency of 21%. The homozygous ΔF508 mutation was observed in eight patients (18%), and three patients (7%) were ΔF508 carriers. The 2183AA > G mutation was observed in four patients, one of whom was also a ΔF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a ΔF508 carrier. CONCLUSION: Out of 45 patients, 27 (60%) had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations.