BACKGROUND AND PURPOSE: The aim of this study was to elucidate the clinical features, prothrombotic risk factors, and outcome of pediatric Moyamoya patients. METHODS: Patients diagnosed with Moyamoya disease at a tertiary center between January 2000 and December 2006 were enrolled in this study. The clinical presentations, underlying diseases, prothrombotic risk factors, family history of thrombosis, radiological findings, treatment, and outcome of the patients were reviewed retrospectively. RESULTS: Eight patients with angiographically proven Moyamoya disease were identified, one of whom had neurofibromatosis type I and one had Down syndrome. The age at diagnosis varied between 19 months and 11 years (73.4+/-41.8 months, mean+/-SD). The follow-up period after diagnosis was 52.5+/-14.8 months. In six patients, the initial clinical presentation was hemiparesis. None of the patients had any identifiable prothrombotic factors. Despite medical and surgical treatment, three patients had recurrences and one died. Only two patients recovered without sequelae. CONCLUSIONS: The value of prothrombotic risk factor evaluation appears to be limited in Moyamoya patients; the outcome for pediatric patients remains dismal.
Down Syndrome ; Follow-Up Studies ; Humans ; Moyamoya Disease ; Neurofibromatosis 1 ; Paresis ; Recurrence ; Risk Factors ; Thrombosis

OBJECTIVE: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. METHODS: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy. Their children were then investigated using echocardiography, urinary ultrasound, cranial magnetic resonance image, and examined by geneticists and pediatric dentists. RESULTS: One hundred and seventeen children were included in the study. Ninety one of these children were exposed to AED during pregnancy. The most commonly used AED were valproic acid and carbamazepine in monotherapy. The percentage of major anomaly was 6.8% in all children. Dysmorphic features and dental anomalies were observed more in children exposed especially to valproic acid. There were 26 mothers with two and four mothers with three pregnancies from the same fathers. No correlation was found between the distribution of malformations in recurring pregnancies and AED usage. CONCLUSION: Our study has the highest number of dysmorphism examined in literature, found in all the children exposed to valproic acid, which may account for the higher rate of facial dysmorphism and dental anomalies. On lower doses of valproic acid, major malformations are not seen, although the risk increases with polytherapy. Our data also indicate possible effects of genetic and environmental factors on malformations.
Ambulatory Care Facilities ; Anticonvulsants* ; Carbamazepine ; Child ; Dentists ; Echocardiography ; Fathers ; Female ; Heart Defects, Congenital ; Humans ; Mothers ; Neural Tube Defects ; Pregnancy ; Pregnancy, Multiple ; Retrospective Studies ; Teratogenesis ; Ultrasonography ; Valproic Acid