Homozygous Protein C Deficiency in a Premature Infant- A Case Report
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 p...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2017-12-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/10953/32141_CE(RA1)_F(AP)_PF1(MJ_GG)_PFA(MJ_SS).pdf |
| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |