Diffuse Intracerebral Hemorrhage in an Infant With a Novel Homozygous Variant Leading to Severe Protein C Deficiency.
J Pediatr Hematol Oncol
; 43(6): e763-e765, 2021 08 01.
Article
em En
| MEDLINE
| ID: mdl-33165188
ABSTRACT
Protein C is a circulating anticoagulant that inhibits factor Va and VIIIa and promotes fibrinolysis. Compound heterozygous or homozygous variants in the Protein C gene (PROC) lead to severe deficiency of protein C and affected neonates typically present shortly after birth with purpura fulminans. We describe an infant who suffered a diffuse intracranial hemorrhage as a neonate and presented with purpura fulminans as an older infant which led to investigations that were consistent with severe protein C deficiency. We demonstrate subacute findings on neuroimaging and suggest this condition should be considered with neonatal presentations of bilateral intraparenchymal hemorrhage.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiência de Proteína C
/
Hemorragias Intracranianas
/
Púrpura Fulminante
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article