Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review

Ghassemi, Fariba; Abdi, Fatemeh; Esfahani, Mandana

doi:10.1186/s12886-020-01424-x

Cited by 14 publications

(14 citation statements)

References 27 publications

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“…10 There are many case reports of retinal artery thrombosis or branch retinal artery thrombosis due to protein C deficiency. 23 This case is unique because most of the case reports showed that Protein S deficiency is associated with venous and cerebral thrombosis followed by coronary circulation. However, retinal artery thrombosis due to Protein S deficiency is very rare.…”

Section: Discussionmentioning

confidence: 95%

Multiple arterial and venous thromboses due to protein S deficiency - a case report

Paul¹,

Rahman²,

Ahmed³

et al. 2023

Bangabandhu Sheikh Mujib Medical University Journal

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Section: Discussionmentioning

confidence: 95%

Multiple arterial and venous thromboses due to protein S deficiency - a case report

Paul¹,

Rahman²,

Ahmed³

et al. 2023

Bangabandhu Sheikh Mujib Medical University Journal

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“…Ghassemi et al reported a patient that had congenitally deficiency in pro C and presented with ocular manifestations. They suggested that protein C deficiency should be evaluated in all children with leukocoria because early detection can save their eyesight [5] .…”

Section: Discussionmentioning

confidence: 99%

Protein C deficiency: Report of a challenging case with recurrent multiorgan thrombosis

Afghani

Gharib

Kor

et al. 2021

International Journal of Surgery Case Reports

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Introduction and importance Protein C deficiency is a rare disorder associated with an increased risk of developing abnormal blood clots. Mild and heterozygous cases are usually asymptomatic and may present with recurrent thrombosis. These recurrent thrombi are usually associated with ischemic stroke or concomitant thrombosis during pregnancy and recurrent miscarriage, but arterial thrombosis is relatively uncommon. Case presentation In this case report, we introduce an interesting 21-year-old female patient with a protein C deficiency, which presented with a set of symptoms related to ischemia and thrombosis in several different systems, including the colon, brain, and lower extremities. Clinical discussion With the diagnosis of ischemic colitis, she underwent medical treatment with hydration, antibiotics, anticoagulant, and GI rest. She was discharged with a suitable response to medical treatment and good general condition. One month later, the patient presented with right upper limb paresis and speech disorder, and at the same time, he had swelling of the left lower limb. The patient was diagnosed with DVT of the common femoral vein and protein c deficiency and treated appropriately with anticoagulant (heparin 1000 lU/h) and was discharged with oral rivaroxaban after symptoms improved. Conclusion In young patients with ischemic colitis without a history of previous surgery, increased coagulation should be considered, including impaired fibrinolysis and impaired microcirculation and inflammatory processes. Protein C deficiency is one of several reasons for thrombotic disorders that should be considered in these people, especially if they have a history of DVT or other vascular thromboses.

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“…There have been previous reports of protein C deficiency, presenting with neonatal purpura fulminans; intracranial hemorrhage or infarctions; and ophthalmologic complications including non-reactive pupils; leukocoria; vitreous, retinal, and subretinal hemorrhage; retinal arterial and venous occlusion; kidney infarction; and rarely, colonic perforation [ 1 , 9 , 10 ]. In most cases, treatments such as FFP replacement, LMWH, warfarin, and protein C concentrates were used effectively.…”

Section: Discussionmentioning

confidence: 99%

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

et al. 2021

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Background Severe protein C deficiency is a rare and inherited cause of thrombophilia in neonates. Protein C acts as an anticoagulant, and its deficiency results in vascular thrombosis. Herein, we report a case of protein C deficiency with a homozygous pathogenic variant in a term neonate, with good outcomes after proper treatment. Case presentation A four-day-old male newborn was transferred to the Seoul National University Hospital on account of dark red to black skin lesions. He was born full-term with an average birth weight without perinatal problems. There were no abnormal findings in the prenatal tests, including intrauterine sonography. The first skin lesion was observed on his right toes and rapidly progressed to proximal areas, such as the lower legs, left arm, and buttock. Under the impression of thromboembolism or vasculitis, we performed a coagulopathy workup, which revealed a high D-dimer level of 23.05 μg/ml. A skin biopsy showed fibrin clots in most capillaries, and his protein C activity level was below 10%, from which we diagnosed protein C deficiency. On postnatal day 6, he experienced an apnea event with desaturation and an abnormal right pupillary light reflex. Brain computed tomography showed multifocal patchy intracranial hemorrhage and intraventricular hemorrhage with an old ischemic lesion. Ophthalmic examination revealed bilateral retinal traction detachments with retinal folds. Protein C concentrate replacement therapy was added to previous treatments including steroids, prostaglandin E1, and anticoagulation. After replacement therapy, there were no new skin lesions, and the previous lesions recovered with scarring. Although there were no new brain hemorrhagic infarctions, there was ongoing ischemic tissue loss, which required further rehabilitation. Ophthalmic surgical interventions were performed to treat the bilateral retinal traction detachments with retinal folds. Molecular analysis revealed a homozygous pathogenic variant in the PROC gene. Conclusion Severe protein C deficiency can manifest as a fatal coagulopathy in any organ. Early diagnosis and proper treatment, including protein C concentrate replacement, may improve outcomes without serious sequelae.

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Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review

Cited by 14 publications

References 27 publications

Multiple arterial and venous thromboses due to protein S deficiency - a case report

Multiple arterial and venous thromboses due to protein S deficiency - a case report

Protein C deficiency: Report of a challenging case with recurrent multiorgan thrombosis

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

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