A newborn baby presented with profuse bleeding from the umbilical stump after bih. Other physical examination are normal. PT and APTT are within normal limits. What is the most probable diagnosis you would consider?
Correct Answer: Factor X deficiency
Description: Bleeding from umbilical stump is an early manifestation of factor X deficiency. Congenital factor X deficiency is an autosomal recessive disease. Homozygous patients shows markedly prolonged PT and APTT, and heterozygous individuals show mildly prolonged or normal PT and APTT. Since this child is presenting with bleeding from umbilical stump with normal PT and PTT, most likely diagnosis is Factor X deficiency. In Von Willibrand disease: PT is normal, PTT is increased. In factor XIII deficiency: PT and PTT are normal, minimally prolonged thrombin time, increased fibrin degradation products. Diagnosis is established by increased clot solubility in 5M urea, dilute monochloroactic acid or acetic acid. In Bernard soulier sydrome: abnormally large platelets, moderate thrombocytopenia and prolonged bleeding time. Platelet aggregation studies shows defective response to ristocetin and normal response to other agonists. Addition of normal platelets corrects abnormal aggregation. In Glanzmann's thrombasthenia: Platelet aggregation studies shows marked impairment of aggregation in response to stimulation with typical agonists.
Category:
Pediatrics
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