Homozygous protein C deficiency in a newborn. Clinicopathologic correlation.
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.
Tarras
S
S
Department of Neurology, University of Miami, FL 33101.
Gadia
C
C
Meister
L
L
Roldan
E
E
Gregorios
J B
JB
D001778:Blood Coagulation Disorders / Q000151:congenital / Q000209:etiology / Q000235:genetics; D001921:Brain / Q000473:pathology*; D002543:Cerebral Hemorrhage / Q000473:pathology; D006720:Homozygote; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D011486:Protein C / Q000032:analysis* / Q000235:genetics; D012851:Sinus Thrombosis, Intracranial / Q000473:pathology; D013927:Thrombosis / Q000209:etiology / Q000235:genetics / Q000473:pathology
D011486:Protein C