Homozygous Protein C Deficiency in a Premature Infant- A Case Report
Journal Title: Journal of Clinical and Diagnostic Research - Year 2017, Vol 11, Issue 12
Abstract
Homozygous protein C deficiency is a rare autosomal recessive inherited disorder manifesting as neonatal purpura fulminans. A two-day-old male baby delivered at 31 weeks developed purpuric lesions over the left medial malleolus progressing to other areas. Investigations done showed no detectable protein C activity. Genetic testing identified a homozygous mutation at PROC gene Exon 7; p.Arg211Gln. The diagnosis of inherited homozygous protein C deficiency was made. Heterozygous mutation was identified in the parents. Genetic analysis to detect the heterozygous state in the parents will help in prenatal diagnosis in future pregnancies and in genetic counseling.
Authors and Affiliations
Ravi Teja Juloori, FEBE Renjitha SUMA, Rithika Rajendran, B Uma maheswari
Keywords
Related Articles
- EP ID EP367440
- DOI 10.7860/JCDR/2017/32141.10953
- Views 54
- Downloads 0
Role of a Prosthodontist in Forensic Dentistry- A Step towards Evolution
ABSTRACT In Forensic odontology, dentistry plays a significant role in the identification of victims in the process of law and order. Dental identification serves as a primary mean for the identification of victim when o...
Analysis of 12 Months Clinical Outcomes Associated with Implantation of Ultrathin (60 μm) Bare Metal Stent in an Unselected Real-world Population with Coronary Artery Disease
Introduction: In the era of drug-eluting stents, Bare Metal Stent (BMS) has worked its way up to be recognized in several indications. Moreover, literature suggests that strut thickness has been directly related to the r...
Prevalence of blaCTX-M, blaCTX-M-2, blaCTX-M-8, blaCTX-M-25 and blaCTX-M-3 Genes in Escherichia coli Isolated from Urinary Tract Infection in Kermanshah City, Iran
ABSTRACT Introduction: Urinary Tract Infection (UTI) is one of the most common bacterial infections and Escherichia coli is the most common organism that causes UTI. However, the incidence of community acquired UTI cause...
A Report of Two Cases of “Giant Bartholin Gland Cysts” Successfully Treated by Excision with Review of Literature
Bartholin’s gland cysts are one of the common vulval masses that may start as asymptomatic cysts but if left untreated, may become large and infected requiring medical attention. We are presenting two interesting and rar...
Physical Activity in Building Stronger Community
Inadequate Physical Activity (PA) is one of the major risk factors contributing to global mortality. Community Wide Intervention (CWI) to increase PA at the community level is effective not only in the prevention but als...