Bilateral Retinal Dysplasia and Secondary Glaucoma Associated with Homozygous Protein C Deficiency

PURPOSE: Protein C deficiency is an autosomal recessive disorder, which predisposes the patient to potentially blinding and widespread lethal thromboembolic complications, especially in the homozygous type. We here report the first Korean case of ophthalmic involvement and its surgical treatment in homozygous protein C deficiency. METHODS: A 3.4kg, full term girl was born by normal delivery but showed bilateral leukocoria on day 2. Laboratory results disclosed a very low protein C activity level (10%) in the patient and moderately decreased levels in the other family members. Ophthalmic examination showed bilateral corneal opacity and shallow anterior chamber. B-scan ultrasonography which showed intravitreal mass lesions without microphthalmos and a funnel-shaped retinal detachment suggested bilateral retinal dysplasia. RESULTS: As the eyes were under progression of secondary glaucoma, bilateral lensectomies were performed at 2 months old and corneal opacity was regressed to some degree. However, at 14 months old, the left eye showed moderate corneal opacity with a band keratopathy. CONCLUSIONS: Although visual outcome was very poor after surgery, we could impede or slow down the progression of secondary glaucoma and save the eyeballs in the infant with homozygous protein C deficiency.

A Case of Neonatal Purpura Fulminans Due to a Homozygous Protein C Deficiency / 대한피부과학회지

Homozygous protein C deficiency is a rare hereditary coagulation disorder that occurs most often in childhood and is characterized by widespread thrombosis of capillaries and venules, abrupt onset of ecchymoses and necrosis. The hematological feature corresponds with disseminated intravascular coagulation. Protein C is a natural anticoagulant and also has important anti-inflammatory activity. For confirmation of homozygous protein C deficiency, the infant should have undetectable protein C activity and both parents should be heterozygous for protein C deficiency. We experienced a case of purpura fulminans in the newborn infant in whom we identifed homozygosity for familial protein C deficiency. Fresh frozen plasma for replacement of protein C, early debridement and full-thickness skin graft induced a remission. Administration of warfarin was used to prevent recurrence of attacks. This report emphasizes the need for early diagnosis and adequate replacement therapy in patient with purpura fulminans.

A Case of Neonatal Purpura Fulminans Due to Homozygous Protein C Deficiency

Homozygous Protein C deficiency is a rare genetic disease with catastrophic and fatal purpura fulminans like or thrombotic complication occurring during the neonatal period. Purpura fulminans is characterized by microvascular thrombosis in the dermis followed by perivascular hemorrhage, necrosis, and minimal inflammation. Laboratory findings are consistent with disseminated intravascular coagulopathy: We report a case of purpura fulminans in a neonate with the findings of disseminated intravascular coagulopathy and an undetectable level of protein C activity, whose parents proved to be heterozygous protein C deficiency.

Neonatal purpura fulminans due to homozygous protein C deficiency

No abstract available.