Cerebral strokes in childhood: haematological screening protocol and thrombophilic risk factors

Introduction. Childhood stroke survivors can have a different disabilities caused by their stroke, which can include epilepsy, hemiplegia, hemiparesis, hypotonia, speech and language difficulties, vision deficits and so on. They may require physiokinetic and speech therapy, medications, special education, orthotics and more. The earlier therapy is started, the better chance their disabilities will be less severe. Objective. To assess the role of thrombophilia risk factors, both acquired and hereditary, in a cohort of children with idiopathic central nervous system (CNS) ischaemia followed in our institute between 1998 and 2005. Methods. In order to diagnose an ischemic event we consider: i) careful personal and family history, haematologic disease, mental retardation; ii) physical exam including vascular skin abnormalities. In the first instance CT scan and then MRI. If the CT scanand/or MRI show an ischaemia, then we consider the following diagnostic tests: blood studies (thrombophilia screening), echocardiogram, EKG, cardiac evaluation, carotid artery exam, holter monitor. Now we consider the blood studies performed in these last 6 years. The thrombophilia screening includes: PT, PTT, fibrino gen, measurement of factors VIII: c, VIIIR: Ag, VII, XII, AT III, protein C, protein S, APCR, plasminogen, Born Test, lipoprotein A, prothrombin G20210 mutation, MTHFR mutation, LAC, ACA, homocysteinemia and lipid profile. Since October 1998 we have diagnosed and studied 14 patients (8 females and 6 males) whose age ranges between 7 months and 13 years showing idiopathic arterious CNS ischaemia (average: 72 months; median: 56.5 months; SD: 50.7). They were submitted to the protocol for thrombophilia and a sample of blood has been stored for further genetic analysis. Results. 36% were positive for anticoagulant antibodies In 12 cases (86%) we found a thrombotic risk factor: 5 –3 (21%) in heterozygosys, 2 (14%) in homozigosys– for C677T MTHFR mutation, 1 (7%) for prothrombin polymorphism, 7 (50%) had dyslipidaemia. Four patients received rehabilitation treatment for neurological outcome and 1 for motor disorder; 5 took antiepileptic drugs, and 3 are actually on AED therapy. Three children are currently receiving secondary prophylactic treatment with ASA because thrombotic risk factors were assessed, confirmed and persist in the follow-up controls. Conclusions. We underline the importance of a complete thrombophilia screening protocol in children with CNS ischaemia, since we demonstrate a high incidence of risk factors. We underline the need of a careful neurologic diagnosis and extensive follow-up for a better knowledge of the disease and a prevention of further episodes.