Protein S Deficiency in a Term Neonate

Introduction: Protein S deficiency is a rare condition that leads to blood clotting. These blood clots disrupt normal blood flow and can lead to death of body tissue and necrosis. protein deficiency is estimated to occur in approximately ۱ in ۵۰۰ individuals.Case report: term boy from unrelated parents was born by caesarean section hospitalized in neonatal intensive care unit when he was ten days old with sepsis and pneumonia symptom like cough, fever, poor feeding and dehydration. The history of any disease in the family was negative. CRP= ۲۸ and Na=۱۶۶ was noticeable in laboratory tests. PT = ۱۴, PTT= ۵۶ was reported. Due to the color change of the left upper limb (cyanosis), Doppler ultrasound was performed that reported subclavian artery thrombosis. According to the consultation with the vascular surgeon, TNG spray was used to dilate the artery. According to consultation with the hematologist, dose of Enoxaparin was adjusted and FFP was injected. C-reactive protein, protein S, Antithrombin lll and v- liden factor were checked that the protein s was not normal. Despite use of very high doses of heparin, necrosis progressed and amputation was required. According to the clear gangrene of the fingers and after the marking the ischemia level, left hand under elbow amputation was performed. Doppler ultrasound was performed that reported normal arterial and venous flow. Genetic counseling was done according to the appearance of Down syndrome. Due to the TSH= ۲۲, hypothyroid treatment was also done. Karyotype was recommended and finally he was discharged.

کلیدواژه ها:

protein S deficiency ، neonatology ، amputation