Biomaterial Database

Homozygous protein C deficiency in a newborn. Clinicopathologic correlation. 1988

S Tarras, and C Gadia, and L Meister, and E Roldan, and J B Gregorios

Department of Neurology, University of Miami, FL 33101.

A rare case of homozygous protein C deficiency occurred in a newborn. The patient presented with purpura fulminans in the first few hours after birth and showed multiple hemorrhagic lesions on computed tomography of the brain at 5 days of age. Neurologic symptoms developed at two weeks and the patient died at 37 weeks. His protein C level was less than 5%. Autopsy revealed thrombosis of the dural sinuses, multiple cortical infarcts, intraparenchymal hemorrhages, and hydrocephalus. The pathologic findings are correlated with the neurologic deficits and previously documented cases are reviewed.

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
D008297	Male		Males
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.
D001778	Blood Coagulation Disorders	Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.	Coagulation Disorders, Blood,Disorders, Blood Coagulation,Blood Coagulation Disorder,Coagulation Disorder, Blood,Disorder, Blood Coagulation
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D002543	Cerebral Hemorrhage	Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.	Brain Hemorrhage, Cerebral,Cerebral Parenchymal Hemorrhage,Hemorrhage, Cerebral,Intracerebral Hemorrhage,Hemorrhage, Cerebrum,Brain Hemorrhages, Cerebral,Cerebral Brain Hemorrhage,Cerebral Brain Hemorrhages,Cerebral Hemorrhages,Cerebral Parenchymal Hemorrhages,Cerebrum Hemorrhage,Cerebrum Hemorrhages,Hemorrhage, Cerebral Brain,Hemorrhage, Cerebral Parenchymal,Hemorrhage, Intracerebral,Hemorrhages, Cerebral,Hemorrhages, Cerebral Brain,Hemorrhages, Cerebral Parenchymal,Hemorrhages, Cerebrum,Hemorrhages, Intracerebral,Intracerebral Hemorrhages,Parenchymal Hemorrhage, Cerebral,Parenchymal Hemorrhages, Cerebral
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
D006849	Hydrocephalus	Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.	Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral
D012851	Sinus Thrombosis, Intracranial	Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects.	Cranial Sinus Thrombosis,Intracranial Sinus Thrombophlebitis,Petrous Sinus Thrombosis,Sinus Thrombosis,Venous Sinus Thrombosis, Cranial,Petrous Sinus Thrombophlebitis,Cranial Sinus Thromboses,Intracranial Sinus Thrombophlebitides,Intracranial Sinus Thromboses,Intracranial Sinus Thrombosis,Petrous Sinus Thrombophlebitides,Petrous Sinus Thromboses,Sinus Thrombophlebitides, Intracranial,Sinus Thrombophlebitides, Petrous,Sinus Thrombophlebitis, Intracranial,Sinus Thrombophlebitis, Petrous,Sinus Thromboses,Sinus Thromboses, Cranial,Sinus Thromboses, Intracranial,Sinus Thromboses, Petrous,Sinus Thrombosis, Cranial,Sinus Thrombosis, Petrous,Thrombophlebitides, Intracranial Sinus,Thrombophlebitides, Petrous Sinus,Thrombophlebitis, Intracranial Sinus,Thrombophlebitis, Petrous Sinus,Thromboses, Cranial Sinus,Thromboses, Intracranial Sinus,Thromboses, Petrous Sinus,Thromboses, Sinus,Thrombosis, Cranial Sinus,Thrombosis, Intracranial Sinus,Thrombosis, Petrous Sinus,Thrombosis, Sinus