Hereditary antithrombin III deficiency with a superior sagittal sinus thrombosis: evidence for a possible mutation starting in the mother of the propositus.
A patient with a superior sagittal sinus thrombosis (SSST) which occurred during the postpartum period is reported. Coagulation studies revealed persistently decreased antithrombin III (AT III) activity. Studies of AT III activity in her family revealed a hereditary AT III deficiency. Since AT III activity was normal in the grandparents of the propositus, the disorder in this family appears to be due to a spontaneous mutation occurring in the mother of the propositus.
Muramatsu
S
S
Department of Neurology, Jichi Medical School, Tochigi, Japan.
Mizuno
Y
Y
Murayama
H
H
Ikemoto
S
S
D000328:Adult; D000990:Antithrombin III / Q000235:genetics; D020152:Antithrombin III Deficiency; D001778:Blood Coagulation Disorders / Q000150:complications / Q000235:genetics*; D001789:Blood Group Antigens; D004198:Disease Susceptibility; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011644:Puerperal Disorders / Q000000981:diagnostic imaging / Q000209:etiology*; D011859:Radiography; D012851:Sinus Thrombosis, Intracranial / Q000000981:diagnostic imaging / Q000209:etiology*
D001789:Blood Group Antigens; D000990:Antithrombin III