A CASE PRESENTATION Faculty of Medicine Pediatrics Round

A CASE PRESENTATION Faculty of Medicine Pediatrics Round Department of Pediatrics Dr/ Alaa Abdellah

ACASE OF HEMOPHILIA

� Def: �a hereditary bleeding disorder due to deficiency or functional abnormality in coagulation factors marked by delayed clotting of the blood with prolonged or excessive internal or external bleeding after injury or surgery and in severe cases spontaneous bleeding into joints and muscles.

�Types Hemophilia A (classic): X-linked recessive involving a deficiency in factor VIII (8) represent 85 % of cases. � Hemophilia B : X-linked recessive involving a deficiency in factor IX (9) represent 10 -15 % � Hemophilia C : autosomal recessive involving a deficiency in factor XI (11) represent 2 -3%. �

� Mode of transmission of hemophilia A&B

Case senario

� Pesonal history � Name: moustafa Ahmed mohammed � Age: 6 months � Sex: male � Residence: Aswan � Informative person: mother

� Complaint � Bleeding after circumcision today

� History � The of present illness condition has been started today by bleeding from the site of circumcision stopped temporarily by compressing. � Bleeding reocured again after 2 to 3 hours so sought medical advise. � No history of bleeding from other any site. � No other systems affection

� Past history small bleeding from umbilical stump � Family history hemophilia in his uncle � Obstetric and neonatal history full term baby, normal vaginal delivery � Nutritional history breast feeding

� Vaccination history fully vaccinated according to his age � Developmental history normal for age

Examination � General ex. the pt. lying free flat comfortable in bed with no abnromal facies, averge built with no special decubitus ther is pallor with no cyanosis or jaundice

� Vital data pulse 150 RR 48 Temp 37. 3 BP 90/60 � Anthropometric measures WT 8 kg length 65 cm HC 45 cm

� Abdominal ex. unremarcable � Respiratory ex. unremarcable � Cardiac ex. unremarcable

� Investigation needed CBC anemia bleeding time normal PT, PC normal a. PTT prolonged factor VIII assay decreased

� Managment � During active bleeding -blood for anemia -fresh frozen plasma -factor VIII concentrate � Between bleeding episodes carefull observation avoid aspirin rcombinant factor VIII

Thank you