Bilateral leukocoria in a patient with homozygous protein C deficiency.
We describe a bilateral leukocoria and neonatal purpura fulminans in a male infant, born at full term after an unremarkable pregnancy to a healthy consanguineous married couple. Multiple hemorrhagic skin bullae were found at birth on various parts of the body with bilateral leukocoria, organized vitreous hemorrhage, retinal detachment, and intracranial hemorrhage with undetectable levels of protein C activity. We report a clinical case of homozygous protein-C deficiency with severe purpura fulminans and bilateral leukocoria.
Khan
Nasrat M
NM
Department of Ophthalmology, Strabismus and Pediatric Ophthalmology Service, Riyadh Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
Al-Dohayan
Noura D
ND
Al-Batiniji
Fatima S
FS
D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications; D007231:Infant, Newborn; D008297:Male; D020151:Protein C Deficiency / Q000150:complications*; D011681:Pupil Disorders / Q000150:complications*