Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series.
Z Geburtshilfe Neonatol
; 221(1): 39-42, 2017 Feb.
Article
em En
| MEDLINE
| ID: mdl-27383044
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Púrpura Trombocitopênica Trombótica
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Coagulação Intravascular Disseminada
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Sepse Neonatal
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article