Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene.
J Pediatr Hematol Oncol
; 41(1): e60-e62, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-29771863
ABSTRACT
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion. The patient is alive at 6-month post follow-up, and on regular plasma therapy. Congenital thrombotic thrombocytopenic purpura should be considered in the differential diagnosis of thrombocytopenia with hemolytic anemia in infants.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Plasma
/
Púrpura Trombocitopênica Trombótica
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Transfusão de Componentes Sanguíneos
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Mutação de Sentido Incorreto
/
Proteína ADAMTS13
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article