Bernard-Soulier Syndrome with Unusual Presentation of Splenic Infarct

Anjali Shankar, Gosavi Siddharth, Tracey Austin Anne, Anjitha Uthamarajan Nair

Research output: Contribution to journalShort surveypeer-review


A 26-year-old male presented to general medicine department on 16th March 2020 with complaints of 3 episodes of epistaxis for 2 days. The epistaxis was
spontaneous, sudden in onset, recurring in nature, copious in amount, not relieved on its own. No history of nasal trauma, head injury, fever, joint pain, cough, breathlessness, difficulty in swallowing, pain abdomen, haematuria, rashes. No history of bleeding diathesis from any other site. Past history revealed similar complaints of nasal bleeding for past 2 - 3 months for which he used to get admitted and administered platelets transfusions after which the symptoms used to subside. No history of any bleeding disorders or other comorbidities. Family history revealed that the younger brother is a known case of Bernard-Soulier syndrome diagnosed at the age of 15 years. Drug history was insignificant. Based on patient’s presentation and family history, a congenital bleeding disorder was considered as provisional diagnosis. On clinical examination pallor was observed in lower palpebral conjunctiva and dorsum of tongue and crusts were present in nose. Moderate splenomegaly was also observed. His laboratory data revealed presence of microcytic hypo-chromic anaemia with hyponatremia, with prolonged bleeding time, normal clotting time and coagulation time. Complete blood count revealed severe microcytic hypochromic anaemia (haemoglobin - 5.8 gram / decilitre) (Figure 1) and giant platelets (Figure 2). Bleeding time was 12 minutes and clotting time was 8 minutes. Factor VIII levels were normal in the patient. Prothrombin time was prolonged with 13.9 seconds. Liver function test revealed only hypoalbuminemia with no derangement of liver enzymes. Renal function tests were normal. Serum electrolytes revealed hyponatremia with 130 millimole / litre. Ultrasound abdomen and pelvis revealed a heterogeneous focus which was noted in spleen with peripheral colour uptake and necrotic areas within it suggesting of splenic abscess / splenic haematoma / infarct. Contrast enhanced computed tomography of abdomen and pelvis revealed mild splenomegaly with heterogeneous foci with peripheral colour uptake and necrotic areas within it measuring 6.4 * 4.8 centimeters, areas were hypo dense and few enlarged retroperitoneal lymph nodes noted in para-aortic region. Computed tomography of brain plain was normal. Contrast enhanced computed tomography of thorax was normal. Platelet function tests revealed normal aggregation with adenosine diphosphate, collagen and arachidonic acid and markedly reduced with ristocetin. Flow cytometry could not be assessed. His clinical examination revealed findings suggestive of anaemia and splenomegaly was also present with vital parameters within normal limits. He underwent thorough work-up with working diagnosis of bleeding disorder under evaluation.
Original languageEnglish
JournalJournal of evidence based medicine and health care
Issue number7
Publication statusPublished - 15-02-2021


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