As in adults, acquired and inherited prothrombotic risk factors increase th
e risk of thrombosis in neonates, infants and children. Duplex sonography,
venography, computed tomography and magnetic resonance imaging can be used
to diagnose childhood thromboembolism, but venography is the recommended me
thod to confirm vascular occlusion of the upper venous system. After suffer
ing thrombosis, patients should be screened for factor V G1691A, prothrombi
n G20210A and MTHFR C677T genotypes, deficiencies of protein C, protein S,
and antithrombin, elevation of lipoprotein (a) and fasting homocysteine con
centrations (3 to 6 months after thrombotic onset: plasma-based assays). Da
ta interpretation is based on age-dependent reference ranges and the identi
fication of causative gene mutations/polymorphisms with respect to the indi
vidual ethnic background. Paediatric treatment protocols for acute thromboe
mbolism, including thrombolytic and anticoagulant therapy, are hampered by
the lack of appropriate clinical trials. Thus, recommendations from small-s
cale studies in paediatric patients and guidelines adapted from adult patie
nt protocols may be helpful in the management of paediatric patients on an
individual patient basis.