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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation

Authors
 Myung Seop Lim  ;  Jung Eun Shin  ;  Soon Min Lee  ;  Ho Sun Eun  ;  Min Soo Park  ;  Kook In Park  ;  Ran Namgung  ;  Kyung A Lee  ;  Jin Sung Lee 
Citation
 Neonatal Medicine, Vol.23(4) : 233-237, 2016 
Journal Title
 Neonatal Medicine 
Issue Date
2016
Abstract
Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromosome 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5-day-old female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5℃ and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging revealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frameshift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, respectively. The patient recovered from purpura after undergoing ventriculoperitoneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC concentrate. This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.
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DOI
10.5385/nm.2016.23.4.233
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers
Yonsei Authors
남궁란(Namgung, Ran) ORCID logo https://orcid.org/0000-0001-7182-9535
박국인(Park, Kook In) ORCID logo https://orcid.org/0000-0001-8499-9293
박민수(Park, Min Soo) ORCID logo https://orcid.org/0000-0002-4395-9938
신정은(Shin, Jeong Eun) ORCID logo https://orcid.org/0000-0002-4376-8541
은호선(Eun, Ho Seon) ORCID logo https://orcid.org/0000-0001-7212-0341
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
이순민(Lee, Soon Min) ORCID logo https://orcid.org/0000-0003-0174-1065
이진성(Lee, Jin Sung) ORCID logo https://orcid.org/0000-0002-1262-8597
임명섭(Lim, Myung Seop)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/155767
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