Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Cerebrovascular accidents with familial antithrombin III deficiency -Gene analysis study-

Shinya Tsukahara, M. D. , Takahiro Iizuka, M. D. , Norihiro Suzuki, M. D. and Fumuhiko Sakai, M. D.

Department of Internal Medicine (Neurology), School of Medicine, Kitasato University

We report two cases of the cerebral infarction with familial antithrombin III type I deficiency. Case1 is a 47-year-old woman presenting deep cerebral vein thrombosis. Case 2 is a 20-year-old man presenting the top of the basilar syndrome. Beside them, substantial number of members had cerebral infarction in this pedigree. We measured AT III activity and quantity for 18 persons in this pedigree. As a consequence, 6 of 18 persons in this pedigree had AT III type I deficiency. Analysis of PCR products of AT III gene derived from the case 1's leukocyte DNA revealed a novel frame shift insertion was demonstrated as mutant alleles with 4-base CTTT in nt 2,420 or nt 2,424 in exon 2 domain on the AT III gene. AT III type I deficiency caused by frame shift insertion has been reported only twelve pedigrees. This is the first case report of AT III type I deficiency caused by frame shift insertion in Japan.

(CLINICA NEUROL, 42: 207|211, 2002)
key words: familial antithrombin III deficiency, gene mutation, occlusion of cerebral vein, top of the basilar syndrome

(Received: 18-Sep-01)