title: Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series.
abstract: We report on 3 male neonates with hereditary ADAMTS13 deficiency (Upshaw Schulman syndrome, USS), the inherited form of thrombotic thrombocytopenic purpura (TTP). 2 presented shortly after birth with thrombocytopenia followed by microangiopathic Coombs-negative haemolytic anaemia. Both initially received antibiotic treatment for suspected infection-associated thrombocytopenia. In one patient's brother, the first bout of incipient TTP did not occur before 6 months of age, despite the same genetic defect. ADAMTS13 activity was<5%, compound heterozygous mutations were found in all patients. USS constitutes a differential diagnosis to thrombocytopenia caused by disseminated intravascular coagulation in neonatal septicaemia. Administration of fresh frozen plasma usually resolves acute bouts of the disease. In some cases of thrombocytopenia of unknown origin in infancy, the resolution of signs and symptoms after infusion of plasma may point towards the diagnosis.
authors.affiliation: Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
authors.forename: Kai
authors.initials: K
authors.lastname: Lehmberg
authors.affiliation: Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Wolf A
authors.initials: WA
authors.lastname: Hassenpflug
authors.affiliation: Klinik für Kinder- und Jugendmedizin, Klinikum Itzehoe, Itzehoe, Germany.
authors.forename: Ilka
authors.initials: I
authors.lastname: Klaassen
authors.affiliation: Klinik für Kinder- und Jugendmedizin, Klinikum Itzehoe, Itzehoe, Germany.
authors.forename: Georg
authors.initials: G
authors.lastname: Hillebrand
authors.affiliation: Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Oyen
authors.affiliation: Medilys Laboratory, Haemostaseology, Hamburg, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Budde
authors.affiliation: Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Dominique
authors.initials: D
authors.lastname: Singer
authors.affiliation: Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
mesh_terms: D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D016913:Blood Component Transfusion / Q000379:methods; D003131:Combined Modality Therapy / Q000379:methods; D003937:Diagnosis, Differential; D004211:Disseminated Intravascular Coagulation / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000628:therapy; D008297:Male; D000071074:Neonatal Sepsis / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D010949:Plasma; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000628:therapy
chemical_list: D000900:Anti-Bacterial Agents