Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.

Congenital thrombocytopenia in childhood and adolescence requires an extensive diagnostic workup to find the underlying reason. We report on a 13-year-old female patient who was incidentally found to have moderate thrombocytopenia which was also diagnosed in her father and brother. Within the microscopic evaluation of a peripheral blood smear macrothrombocytes were found. Immunofluorescence microscopy of the patient's platelets detected the lack of ß1-tubulin. Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the ß1-tubulin defect.

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.

Successful thrombolytic treatment of neonatal arterial thromboses.

Compared to children of other age groups neonates show an increased thrombotic risk. The acute therapy depends on thrombus age, the localisation of vascular occlusion and the severity of the underlying disease. The treatment of choice is represented by the administration of unfractionated (UFH) or low molecular weight heparin (LMWH). If loss of limbs or organs is imminent, the application of thrombolytic treatment with recombinant tissue-type plasminogen activator (rt-PA) should be considered whilst taking into account the associated bleeding risk. We report on two patients in which thrombolytic therapy has been conducted successfully.