title: Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: ichiyama.m@fcho.jp.
authors.forename: Masako
authors.initials: M
authors.lastname: Ichiyama
authors.affiliation: Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan. Electronic address: ohgas@yamaguchi-u.ac.jp.
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: ochimasa@pediatr.med.kyushu-u.ac.jp.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Ochiai
authors.affiliation: Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: kfuku@med.kyushu-u.ac.jp.
authors.forename: Kotaro
authors.initials: K
authors.lastname: Fukushima
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: ischii@pediatr.med.kyushu-u.ac.jp.
authors.forename: Masataka
authors.initials: M
authors.lastname: Ishimura
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: michiko0111@hotmail.com.
authors.forename: Michiko
authors.initials: M
authors.lastname: Torio
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan. Electronic address: maourata@med.kyusyu-u.ac.jp.
authors.forename: Michiyo
authors.initials: M
authors.lastname: Urata
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan. Electronic address: thotta@cclm.med.kyushu-u.ac.jp.
authors.forename: Taeko
authors.initials: T
authors.lastname: Hotta
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan. Electronic address: kang@cclm.med.kyushu-u.ac.jp.
authors.forename: Dongchon
authors.initials: D
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: harat@pediartr.med.kyushu-u.ac.jp.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011486:Protein C / Q000235:genetics / Q000378:metabolism*; D020151:Protein C Deficiency / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D017293:Protein S / Q000378:metabolism; D020521:Stroke / Q000235:genetics / Q000378:metabolism*; D019851:Thrombophilia / Q000235:genetics / Q000378:metabolism
chemical_list: D011486:Protein C; D017293:Protein S
keywords: Heritable thrombophilia; Perinatal stroke; Ventriculomegaly