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Editor,—Protein C is a plasma inhibitor protein that, once activated, inhibits clot formation and enhances fibrinolysis. Protein C deficiency has two forms. The homogeneous form presents in the neonatal period with ecchymotic-necrotic skin lesions and widespread thrombosis in major blood vessels with very low or undetectable protein C activity. Heterozygote individuals have protein C levels of approximately 50% and usually remain asymptomatic until adolescence.1
We present a neonate with homozygous protein C deficiency whose initial finding was leucocoria.
A 2 day old female infant was referred to Gazi University Hospital Division of Newborn Medicine with bullous haemorrhagic lesions on both heels and left leg and leucocoria of the left eye. At the time of birth she was noted to be completely normal other than the ocular finding. On the second day of life blue-black necrotic lesions appeared on the left leg at the injection site of vitamin K and both heels at the venesection sites. Family history was remarkable for a first degree consanguinity between the parents. Physical examination revealed purpuric necrotic lesions on her left thigh, and both heels, and leucocoria was present on the left eye.
Laboratory findings were as follows: haemoglobin: 16.7 g/dl, platelets: 46 000/mm3, prothrombin time: 24.4 seconds, partial thromboplastin time: 66 seconds, fibrinogen: 41mg/dl,d-dimer: 8 ng/ml, fibrin degradation product <5 ng/ml. Coagulation tests were abnormal and consistent with disseminated intravascular coagulation. Protein C activity: 1.65%, maternal protein C activity: 18.6%, paternal protein C activity: 50.5%. TORCH screen: negative. Abdominal and cranial ultrasound were both within normal limits.
Ophthalmological examination and eye ultrasound revealed leucocoria, and 10×7 mm hyperechogenic structure underneath retina of the left eye consistent with subretinal haemorrhage.
With these findings the patient was diagnosed to have homozygous protein C deficiency and disseminated intravascular coagulation and was treated with fresh frozen plasma, sodium warfarin, and low molecular weight heparin. No other intrauterine infections or reasons were found to explain ocular findings.
Primary causes of leucocoria in children are cataract, persistent hyperplastic primary vitreous, cicatricial retinopathy of prematurity, retinal detachments, and retinoblastoma. Retinal vascular or vitreal haemorrhages have been infrequently reported to result in leucocoria in infants with protein C deficiency.
Ophthalmological manifestations of protein C deficiency result from retinal arterial or venous occlusions, retinal, preretinal, or vitreous haemorrhages.2 The lesions may be intrauterine events or occur postnatally.3 At birth neonates can present with non-reactive pupils, periorbital oedema, and chemosis. To our knowledge earliest leucocoria due to protein C deficiency was reported in a 2 months old infant.4 However, in our patient leucocoria was present at birth and the skin lesions appeared on the second day of life showing that the infant actually suffered from protein C deficiency in utero. Therefore, we conclude that leucocoria by itself can be the first manifestation of homozygous protein C deficiency; this should alert the physician to the problem since these infants can also have severe cerebral complications which are preventable if treated on time.