Bruises in a 3-month-old infant. The importance of differential diagnosis

Introduction: the presenting complaint in a paediatric visit may or not be related to an important underlying disease, so performing an exhaustive physical examination in search of warning signs is essential.

Clinical case: we present the case of a 3-month-old infant in whom little bruises in thorax were detected during a visit to our emergency room. Several tests were performed to assess the initial suspicion of physical child abuse, after which the final diagnosis was Glanzmann thrombasthenia.

Discussion: Glanzmann thrombasthenia is an inherited platelet function disorder. It is a rare disorder with autosomal recessive inheritance. Complete blood count and basic coagulation tests are normal, and the diagnosis is performed by platelet function testing and light transmission aggregometry.

Conclusions: the presence of bruises in infants is always a reason for investigation. Although, given its frequency, child abuse is one of the leading causes, we must not forget that it is a diagnosis of exclusion. Therefore, other pathologies should be ruled out based on the presenting signs and symptoms.