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Revista Cubana de Pediatría
On-line version ISSN 1561-3119
Abstract
PATARROYO VELASQUEZ, David Alberto and MARTINEZ ESTEVEZ, Nancy. Clinical manifestations of factor XII deficiency in an infant. Rev Cubana Pediatr [online]. 2022, vol.94, n.1 Epub Apr 08, 2022. ISSN 1561-3119.
Introduction:
Factor XII or Hageman factor belongs to the contact system as it is the initiator of the intrinsic coagulation pathway. Low concentrations of this factor are associated with prolonged activated partial thromboplastin time, however, hemorrhagic manifestations do not occur as occurs in the deficiency of other factors.
Objective:
Describe the clinical manifestations of an infant diagnosed with coagulation factor XII deficiency.
Case presentation:
A 10-month-old infant who had spontaneous onset of ecchymosis and a factor XII deficiency was diagnosed.
Conclusions:
Although not common, factor XII deficiency may be associated with hemorrhagic manifestations such as ecchymosis, as described in the present case.
Keywords : factor XII; factor XII deficiency; activated partial thromboplastin time; ecchymosis.