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A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
Journal article   Open access  Peer reviewed

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Abdullah A. Baothman, Enaam AlSobhi, Hassan A. Khayat, Raed E. Alsulami, Abdulaziz S. Alkahtani, Abdelraheem A. Al-Thobyani, Yousef I. Marzouk and Mohammad A. Abdelaal
Clinical case reports, Vol.5(3), pp.315-320
03/2017
PMCID: PMC5331256
PMID: 28265398

Abstract

Case Report Case Reports Deficiency genotype homozygous presentation protein C purpura fulminans
Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.
url
https://doi.org/10.1002/ccr3.699View
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