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

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. Pre...

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Detalles Bibliográficos
Autores principales: Baothman, Abdullah A., AlSobhi, Enaam, Khayat, Hassan A., Alsulami, Raed E., Alkahtani, Abdulaziz S., Al‐Thobyani, Abdelraheem A., Marzouk, Yousef I., Abdelaal, Mohammad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331256/
https://www.ncbi.nlm.nih.gov/pubmed/28265398
http://dx.doi.org/10.1002/ccr3.699
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author Baothman, Abdullah A.
AlSobhi, Enaam
Khayat, Hassan A.
Alsulami, Raed E.
Alkahtani, Abdulaziz S.
Al‐Thobyani, Abdelraheem A.
Marzouk, Yousef I.
Abdelaal, Mohammad A.
author_facet Baothman, Abdullah A.
AlSobhi, Enaam
Khayat, Hassan A.
Alsulami, Raed E.
Alkahtani, Abdulaziz S.
Al‐Thobyani, Abdelraheem A.
Marzouk, Yousef I.
Abdelaal, Mohammad A.
author_sort Baothman, Abdullah A.
collection PubMed
description 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.
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spelling pubmed-53312562017-03-06 A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects Baothman, Abdullah A. AlSobhi, Enaam Khayat, Hassan A. Alsulami, Raed E. Alkahtani, Abdulaziz S. Al‐Thobyani, Abdelraheem A. Marzouk, Yousef I. Abdelaal, Mohammad A. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-02-06 /pmc/articles/PMC5331256/ /pubmed/28265398 http://dx.doi.org/10.1002/ccr3.699 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Baothman, Abdullah A.
AlSobhi, Enaam
Khayat, Hassan A.
Alsulami, Raed E.
Alkahtani, Abdulaziz S.
Al‐Thobyani, Abdelraheem A.
Marzouk, Yousef I.
Abdelaal, Mohammad A.
A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title_full A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title_fullStr A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title_full_unstemmed A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title_short A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
title_sort delayed presentation of homozygous protein c deficiency in a series of children: a report on two molecular defects
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331256/
https://www.ncbi.nlm.nih.gov/pubmed/28265398
http://dx.doi.org/10.1002/ccr3.699
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