Biomaterial Database

Diffuse Intracerebral Hemorrhage in an Infant With a Novel Homozygous Variant Leading to Severe Protein C Deficiency. 2021

Georgina Martin, and Mary Ann Thomas, and Xing-Chang Wei, and Doan Le

Departments of Pediatric Hematology & Oncology.

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.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011486	Protein C	A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation.
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D055665	Purpura Fulminans	A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by DISSEMINATED INTRAVASCULAR COAGULATION.	Fulminans, Purpura
D020151	Protein C Deficiency	An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)	Deficiency, Protein C,Hereditary Thrombophilia Due To Protein C Deficiency,Deficiencies, Protein C,Protein C Deficiencies
D020300	Intracranial Hemorrhages	Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.	Brain Hemorrhage,Hemorrhage, Intracranial,Posterior Fossa Hemorrhage,Brain Hemorrhages,Hemorrhage, Brain,Hemorrhage, Posterior Fossa,Hemorrhages, Brain,Hemorrhages, Intracranial,Hemorrhages, Posterior Fossa,Intracranial Hemorrhage,Posterior Fossa Hemorrhages