Significance of platelet function diagnostics for clarification of suspected battered child syndrome.
The manifestation of an unclear bleeding tendency in childhood calls for an extended coagulation work-up, particularly when a battered child syndrome is suspected and typical concomitant injuries are absent. The chosen diagnostic tests should be able to detect the presence of relatively common coagulation defects such as von Willebrand syndrome or hemophilia, but also rare diseases such as inherited thrombocytopathies. The PFA-100® test does not help to provide a definite diagnosis especially in cases of mild inherited thrombocytopathies, since in most cases the PFA-100® test results are normal. For this purpose, specific platelet function testing is needed. However, the methods are only available in some coagulation laboratories. Also, other limitations need to be taken into consideration such as pre-analytical problems and difficulties in the interpretation of test results especially in infants. We present two cases that were diagnosed with an aspirin-like defect as an inherited thrombocytopathy, even though their PFA-100 closure times were within the normal range. Based on pathological findings in the platelet aggregometry test, this diagnosis could be made.
Priv.-Doz. Dr. med. Ralf Knöfler, Medizinische Fakultät der TU Dresden, Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Pädiatrische Hämostaseologie, Fetscherstr. 74, Tel. +49/(0)351/458 47 99, Fax +49/(0)351/458 57 88, E-mail: ralf.knoefler@uniklinikum-dresden.de.
R
R
Knöfler
J
J
Lohse
J
J
Stächele
A
A
Heilmann
F
F
Schwier
U
U
Schmidt
C
C
Erfurt
D001497:Battered Child Syndrome / Q000097:blood* / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005554:Forensic Medicine / Q000379:methods; D006470:Hemorrhage / Q000097:blood* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D010979:Platelet Function Tests / Q000379:methods*
Battered child; bleeding symptoms; inherited thrombocytopathy; platelet function tests