Z Geburtshilfe Neonatol 2017; 221(01): 39-42
DOI: 10.1055/s-0042-109404
Case Report
© Georg Thieme Verlag KG Stuttgart · New York

Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation – a Case Series

Hereditäre thrombotisch-thrombozytopenische Pupura (Upshaw-Schulman Syndrom) als Differenzialdiagnose zur neonatalen Sepsis mit disseminierter intravasaler Gerinnung – eine Fallserie
Kai Lehmberg
1   Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
,
Wolf A. Hassenpflug
2   Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany
,
Ilka Klaassen
3   Klinik für Kinder- und Jugendmedizin, Klinikum Itzehoe, Itzehoe, Germany
,
Georg Hillebrand
3   Klinik für Kinder- und Jugendmedizin, Klinikum Itzehoe, Itzehoe, Germany
,
Florian Oyen
1   Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
,
Ulrich Budde
4   Medilys Laboratory, Haemostaseology, Hamburg, Germany
,
Dominique Singer
2   Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany
,
Reinhard Schneppenheim
1   Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
› Author Affiliations
Further Information

Publication History

received 04 March 2016

accepted after revision 20 May 2016

Publication Date:
06 July 2016 (online)

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.

Zusammenfassung

Wir berichten über 3 männliche Neugeborene mit hereditärer ADAMTS13-Defizienz (Upshaw- Schulman Syndrom, USS), der hereditären Form der thrombotisch-thrombozytopenischen Purpura (TTP). 2 der Jungen wiesen kurz nach Geburt eine Thrombozytopenie auf, gefolgt von einer mikroangiopathischen Coombs-negativen hämolytischen Anämie. Unter dem Verdacht einer Infektions-assoziierten Thrombozytopenie erhielten initial beide eine antibiotische Therapie. Beim ebenfalls betroffenen jüngeren Bruder des einen Kindes traten die ersten Zeichen einer TTP-Episode erst mit 6 Monaten auf. Die Aktivität von ADAMTS13 betrug < 5% und compound heterozygote Mutationen wurden bei allen 3 Patienten gefunden. Das Upshaw-Schulman Syndrom stellt eine Differenzialdiagnose zur Thrombozytopenie im Rahmen einer disseminierten intravaskulären Gerinnung bei neonataler Sepsis dar. Die Verabreichung von fresh frozen plasma führt in der Regel zur zügigen Erholung der pathologischen Parameter. In Fällen von unklarer Thrombozytopenie im Säuglingsalter kann eine Besserung der Symptomatik nach Infusion von Plasma auf ein USS hinweisen.

 
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