title: Hepatic hemangioendothelioma in an infant with severe congenital neutropenia.
abstract: Severe congenital neutropenia (SCN) is a rare disorder caused by heterogeneous genetic mutations. We describe here a rare association of SCN caused by a novel ELANE mutation and infantile hepatic hemangioendothelioma. In a 2-month-old infant, an abdominal ultrasound performed for omphalitis revealed a hepatic tumor, which was resected. Histopathology confirmed the diagnosis of hemangioendothelioma. Postoperatively, severe neutropenia was noted. Bone marrow examination showed myeloid maturation arrest, diagnostic of SCN. Mutation analysis for the neutrophil elastase gene identified a novel heterozygous de novo ELANE missense mutation in exon 2 (c.215T>A, p.Val72Glu). He was managed successfully with broad-spectrum antibiotics and high-dose granulocyte colony-stimulating factor.
authors.affiliation: Pediatric Hematology Oncology and BMT Unit, Department of Pediatrics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.
authors.forename: Veronique
authors.initials: V
authors.lastname: Dinand
authors.forename: Satya Prakash
authors.initials: SP
authors.lastname: Yadav
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: Sunila
authors.initials: S
authors.lastname: Jain
authors.forename: Manorama
authors.initials: M
authors.lastname: Bhargava
authors.forename: Anupam
authors.initials: A
authors.lastname: Sachdeva
mesh_terms: D006390:Hemangioendothelioma / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D019272:Leukocyte Elastase / Q000235:genetics*; D008113:Liver Neoplasms / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000151:congenital / Q000201:enzymology / Q000235:genetics / Q000628:therapy
chemical_list: D019272:Leukocyte Elastase