Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency

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• 作者：Masako Ichiyama^a ; ^{ichiyama.m@fcho.jp" class="auth_mail" title="E-mail the corresponding author} ; Shouichi Ohga^b ; ^{ohgas@yamaguchi-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Masayuki Ochiai^a ; ^{ochimasa@pediatr.med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Kotaro Fukushima^c ; ^{kfuku@med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Masataka Ishimura^a ; ^{ischii@pediatr.med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Michiko Torio^a ; ^{michiko0111@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Michiyo Urata^d ; ^{maourata@med.kyusyu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Taeko Hotta^d ; ^{thotta@cclm.med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Dongchon Kang^d ; ^{kang@cclm.med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Toshiro Hara^a ; ^{harat@pediartr.med.kyushu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}
• 关键词：AT ; antithrombin ; CSF ; cerebrospinal fluid ; CT ; computed tomography ; MRI ; magnetic resonance imaging ; PC ; protein C ; PS ; protein S
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：38
• 期：2
• 页码：253-256
• 全文大小：399 K

文摘

Severe protein C-deficiency is a rare heritable thrombophilia of the newborn. Infants with biallelic PROC mutations present purpura fulminans and intracranial thromboembolism, while the prenatal onset of mutated heterozygotes remains unclear. We herewith present the first case of fetal ventriculomegaly and neonatal stroke associated with heterozygous PROC mutation. The infant was born to a healthy mother at 38 gestational weeks. The fetal growth had been normal, but the routine ultrasound screening had indicated mild hydrocephalus at 28 weeks of gestation. He developed convulsions two days after birth. Computed tomography of the brain revealed multiple hemorrhagic infarctions and ventriculomegaly. Dissociated levels of the plasma activity between protein C (21%) and protein S (42%) reached to determine the heterozygote of PROC c.574_576delAAG, a common thrombophilic predisposition in Asian ancestries. PC-mutant heterozygotes may have a limited high risk of cerebral thromboembolism during the perinatal course.