Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value.
We report herein a case of Factor XIII deficiency that remained undiagnosed until 2 years of age. Part of the delay in diagnosis was a consequence of testing that was performed on a blood sample obtained after plasma transfusion therapy for a life-threatening bleeding episode. Due to insufficient family follow-up after discharge from the hospital, the diagnosis was delayed 1 year until the child was rehospitalized and a pre-transfusion plasma sample was tested. The commonly accepted approach of using only a qualitative test for the diagnosis of factor XIII deficiency is challenged by this case report.
Newman
Richard S
RS
Department of Pathology, University of California, Irvine, Orange, USA. rsnewman@uci.edu
Jalili
Mehrdad
M
Kolls
Bradley J
BJ
Dietrich
Rosalind
R
D001497:Battered Child Syndrome / Q000097:blood / Q000175:diagnosis*; D001780:Blood Coagulation Tests; D016913:Blood Component Transfusion; D003937:Diagnosis, Differential; D005177:Factor XIII Deficiency / Q000097:blood / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome