Open AccessA delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects
Author(s) -
Baothman Abdullah A.,
AlSobhi Enaam,
Khayat Hassan A.,
Alsulami Raed E.,
Alkahtani Abdulaziz S.,
AlThobyani Abdelraheem A.,
Marzouk Yousef I.,
Abdelaal Mohammad A.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.699
Subject(s) - medicine , presentation (obstetrics) , pediatrics , purpura fulminans , dermatology , surgery
Key Clinical Message 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.