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

Masako Ichiyama, Shouichi Ohga, Masayuki Ochiai, Kotaro Fukushima, Masataka Ishimura, Michiko Torio, Michiyo Urata, Taeko Hotta, Dongchon Kang, Toshiro Hara

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)253-256
Number of pages4
JournalBrain and Development
Volume38
Issue number2
DOIs
Publication statusPublished - Feb 1 2016

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Protein C Deficiency
Hydrocephalus
Heterozygote
Stroke
Thromboembolism
Purpura Fulminans
Mutation
Thrombophilia
Protein S
Fetal Development
Protein C
Infarction
Seizures
Tomography
Mothers
Parturition
Newborn Infant
Pregnancy
Brain

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. / Ichiyama, Masako; Ohga, Shouichi; Ochiai, Masayuki; Fukushima, Kotaro; Ishimura, Masataka; Torio, Michiko; Urata, Michiyo; Hotta, Taeko; Kang, Dongchon; Hara, Toshiro.

In: Brain and Development, Vol. 38, No. 2, 01.02.2016, p. 253-256.

Research output: Contribution to journalArticle

Ichiyama, Masako ; Ohga, Shouichi ; Ochiai, Masayuki ; Fukushima, Kotaro ; Ishimura, Masataka ; Torio, Michiko ; Urata, Michiyo ; Hotta, Taeko ; Kang, Dongchon ; Hara, Toshiro. / Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. In: Brain and Development. 2016 ; Vol. 38, No. 2. pp. 253-256.
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