Sixty-three children with thrombosis were screened for factor V Leiden (FVL
) and the mutation was found in 20 patients, 5 of whom were homozygous for
FVL. The clinical features of 15 heterozygous and 5 homozygous patients wit
h factor V Leiden mutation were analyzed. Additional risk factors were foun
d in 19 of these 20 patients (95%) with FVL mutation. The most frequent pre
disposing exogenous factor was infection. The majority of children with FVL
mutation had had several associated disorders prior to their vascular occl
usion, such as homocystinuria, Behcet's disease, collagen tissue disorders,
and hypereosinophilia. Homozygous mutation in two children led to amputati
on of legs due to purpura fulminans. Cerebral thrombosis as cerebral infarc
t was frequent among children with FVL mutation.