DFCPS Postgraduate Trainee, Dow University of Health Sciences, Karachi, Pakistan
Case Report
Thinking of Rare Bleeding Disorders in the Emergency Room: A Diagnosis of Glanzmann Thrombasthenia in a Pakistani Child
Author(s): Salma Mainosh, Ayesha Akbar Khalid*, Mushtaq Ahmed and Syeda Shaheera Hashmi Riaz
Introduction: Glanzmann thrombasthenia is a rare inherited bleeding disorder, with a global prevalence of about one in one million. It is an
autosomal recessive condition characterised by episodes of mucocutaneous bleeding. A defect in the membrane protein results in a defective
platelet aggregation.
Case presentation: A fifteen-month-old female child presented to the emergency department with nosebleed for the last two days. The patient had
two similar episodes of epistaxis in previous few months which were managed at home. There was an accompanying complaint of easy bruising
since birth. After emergency management and anterior nasal packing, extensive blood tests were ordered to determine the cause for recurrent
haemorrhages. Platelet aggregation study concluded a diagnosis of Glanzmann thrombasthenia and the patient was tr.. Read More»
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