Severe factor V deficiency in infants

Abstract

The child was of Polish descent, born GV PIII on time, spontaneous delivery, Apgar 10, with a body weight of 4,040 g, and normal postnatal development. The family history revealed the death of the patient's brother on the fourth day of life; the autopsy examination showed a subcapsular hematoma of the left lobe of the liver, and kidney bleeds; the mother had had two spontaneous miscarriages. ResultsCranial ultrasound (CrUSS) and computed tomography (CT) of the head showed a focal lesion in the form of an intracerebral hematoma with a mass effect in the right frontal lobe.Basic coagulation parameters were urgently determined, showing platelet count 257.0 K/µL (N), activated partial thromboplastin time (APTT) 449.6 s (reference values: 27.2−53.3 s), prothrombin time (PT) 60.7 s (reference values: 9.1−12.1 s), prothrombin index 18.2% (reference values: 88−120%), international normalized ratio (INR) 5.71 (reference values: 0.9−1.39), and bleeding time 8 s (reference values: 4−8 s). Other laboratory test results were normal. The child had blood group 0 Rh (+).After a fresh frozen plasma (FFP) transfusion, the girl was urgently operated on; a right frontal craniotomy with the removal of the hematoma was performed. The diagnostics of coagulation disorders was extended to include the activity of coagulation factors. The first measurement was performed 48 hours after the FFP transfusion. Significantly decreased factor V (FV) activity (5.4%; reference values: 62−139%) and decreased ristocetin cofactor (vWFR:Co) activity (34.4%; reference values: 53−148%) were found.