Homozygous Protein C Deficiency in a Premature Infant- A Case Report ED11-ED12
Dr. Febe Renjitha Suman,
Professor, Department of Pathology, Sri Ramachandra Medical College and Research Institute,
Chennai-600116, Tamil Nadu, India.
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.