Page-247 JBUMDC 2019; 9(3):247-249 Syed Parvez Asghar, Rida Ali, Syed Sajid Abbas Jaffari, Zehra Akhtar, Naveed Siddique ABSTRACT: Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation). They may be life-threatening and demand immediate attention. Congenital bleeding disorders especially pose a diagnostic challenge to the clinician because of their rarity and the need to be differentiated from the other common causes of bleeding in children. We present a case of young male presenting with generalized weakness, high grade fever with chills, dry cough and black tarry stools (2-3 stools/day). No response to steroids and further evaluation by platelet, ADP, collegen, epinephrine and defective response to ristocetin led to the correct diagnosis – Bernard soulier syndrome (BSS). However, it is imperative to have arrived at correct diagnosis in order to save unnecessary therapy and to take due precautions for prevention of bleeding. Key Words: Bernard Soulier Syndrome, Bleeding Disorder, Decrease expression of glycoprotein. cytometry, and platelet aggregation studies. His BCP shows Hb:6.9g/dl, TLC:12.8×/L,LFTs: bilirubin:18µ/L,ALT:49µ/L, ALK.PHOSPHATASE:108µ/L, PT/APTT are normal. Bleeding time : more than 7.00min/sec, retic count:05% to11%, combs test direct/indirect: -ve,HbsAg: -ve ,Anti HCV : -ve, ferritin:83.5ng/ml, ANA: -ve , D-DIMER: normal , stool for occult blood : +ve, DENGUE VIRUS IgM: -ve. Peripheral blood film shows: Dimorphic picture, anisocytosis, poikilocytosis. Polychromasia, few lymphoctes, microcytes, target cells,right shift neutrophills, spherocytes, large platelet seen. Oesogastoduodenoscopy shows multiple bleeding points at 1 st and 2 nd part of duodenum with multiple polyposis, which was found to be benign polyp. Ultrasound and CT-SCAN abdomen is normal. Platelet aggregation studies shows: normal response to ADP, Collagen, Epinephrine and Defective response to Ristocetin. Von-willebrand AG-factor=119%. Risticetin co-factor=115% All above findings are suggestive of BERBARD SOULIER SNDROME.(BSS) This patient was treated symptomatically with proton pump inhibitors, folic acids, iron supplements, antibiotics, electrolyte replacement and blood transfusion. Injection NOVASEVEN (1.2mg) vials 2.4mg IV at interval of 3 hrs, started after platelet aggregation study which did not responded by our patient. Desmopressin nasal spray was started twice a day and results were poitive. His BCP shows Hb:11.2g/dl, TLC:10.6×10^9/L, LFTs: serum biirubin:35, ALT:29, serum ALK.PHS:189µ/L, PT:16, APTT:34, stool for occult blood : -ve. Follow up at 6 monthly was advised that reveals good results. DISCUSSION: Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombo-cytopenia). People INTRODUCTION: It is congenital bleeding disorder, named after two physicians Dr. Jean Pierre Soulier in 1948. It was recognized to be familial and inherited in autosomal recessive manner. It is characterized by prolonged bleeding time, a low platelet count and giant platelet membrane glycoprotein GPIb. Patient usually present in neonate, infancy, early childhood with bruises, nose bleed (epistaxis) or gingival bleeding. Later in adolescence it may present as menorrhagia in females, stomach ulcer, trauma and surgery. CASE REPORT: An 18 year young male student of class X, presented on 19 DEC, 2009 with generalized weakness, high grade fever with chills, dry cough and black tarry stools (2-3 stools/day).His past medical history revealed prolonged bleeding after circumcision, sports injury, epistaxis and malena .He had various hospital admissions and blood transfusion history. Bleeding usually provoked by aspirin and panadol intake. Upon clinical examination, he was pale and rest of examination is unremarkable. The patient was thoroughly investigated by blood tests, radiological studies, flow Case Report Syed Parvez Asghar, Professor, Medicine Department Bahria University Medical and Dental College, Karachi Rida Ali, Registrar, Medicine Department Bahria University Medical and Dental College, Karachi Syed Sajid Abbas Jaffari, Professor, Head of Medicine Department Bahria University Medical and Dental College, Karachi Zehra Akhtar, Lecturer, Medicine Department Bahria University Medical and Dental College, Karachi Naveed Siddique Lecturer, Medicine Department Bahria University Medical and Dental College, Karachi Received: 22-01-2019 Accepted: 15-05-2019 Bernard Soulier Syndrome: Presenting As High-grade Fever In A Young Male DOI: https://doi.org/10.51985/JBUMDC2019005