Isolated thrombocytopenia in children: thinking beyond idiopathic thrombocytopenic purpura and leukaemia

The commonest cause of isolated thrombocytopenia in an otherwise well child is idiopathic thrombocytopenic purpura (ITP). The inherited thrombocytopenias such as Bernard-Soulier syndrome are rare but often misdiagnosed as ITP owing to a similar clinical presentation. We describe a child with Bernard-Soulier syndrome who presented with isolated thrombocytopenia, mimicking ITP. Features which help to differentiate these two conditions are discussed with a brief literature review.