Homozygous Protein C Deficiency in a Premature Infant- A Case Report
Published: December 1, 2017 | DOI: https://doi.org/10.7860/JCDR/2017/32141.10953
Ravi Teja Juloori, Febe Renjitha Suman, Rithika Rajendran, B Uma Maheswari
1. Postgraduate, Department of Pathology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.
2. Professor, Department of Pathology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.
3. Senior Research Fellow, Department of Pathology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.
4. Professor, Department of Neonatology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.
Correspondence
Dr. Febe Renjitha Suman,
Professor, Department of Pathology, Sri Ramachandra Medical College and Research Institute,
Chennai-600116, Tamil Nadu, India.
E-mail: febemd@gmail.com
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.
[
FULL TEXT ] | [ PDF]