RESUMO
OBJECTIVE: To study the effect of folic acid-containing multivitamin supplementation in epileptic women before and during pregnancy in order to determine the rate of structural birth defects and epilepsy-related side effects. STUDY DESIGN: First a randomised trial, later periconception care including in total 12225 females. RESULTS: Of 60 epileptic women with periconceptional folic acid (0.8 mg)-containing multivitamin supplementation, no one developed epilepsy-related side effects during the periconception period. One epileptic woman delivered a newborn with cleft lip and palate. Another patient exhibited with a cluster of seizures after the periconception period using another multivitamin. This 22-year-old epileptic woman was treated continuously by carbamazepine and a folic acid (1 mg)-containing multivitamin from the 20th week of gestation. She developed status epilepticus and later symptoms of systemic lupus erythematodes. Her pregnancy ended with stillbirth. CONCLUSIONS: The epileptic pregnant patient's autoimmune disease (probably drug-induced lupus) could damage the blood-brain barrier, therefore the therapeutic dose (> or =1 mg) of folic acid triggered a cluster of seizures. Physiological dose (<1 mg) of folic acid both in healthy and 60 epileptic women, all without any autoimmune disease, did not increase the risk for epileptic seizures.
Assuntos
Epilepsia/induzido quimicamente , Ácido Fólico/efeitos adversos , Lúpus Eritematoso Sistêmico/induzido quimicamente , Complicações na Gravidez , Aborto Espontâneo , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/uso terapêutico , Suplementos Nutricionais , Método Duplo-Cego , Interações Medicamentosas , Epilepsia/tratamento farmacológico , Feminino , Ácido Fólico/administração & dosagem , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Gravidez , Vitaminas/administração & dosagemRESUMO
The authors report mother and her daughter affected with intracranial aneurysm and arteriovenous malformation. The anomalies of cerebral vascular system, as intracranial aneurysms, cavernous hemangiomas and arteriovenous malformations are considered to originate from congenital maldevelopments of the brain vessels. The importance of the early diagnosis in the familial cases and the prevention due to surgery and genetic counselling are stressed.
Assuntos
Malformações Arteriovenosas/genética , Artérias Cerebrais/anormalidades , Transtornos Cerebrovasculares/genética , Hemangioma Cavernoso/genética , Aneurisma Intracraniano/genética , Adolescente , Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Evolução Fatal , Feminino , Genes Dominantes , Humanos , Lactente , LinhagemRESUMO
Three affected members of a family with olivopontocerebellar atrophy IV (Schut-Haymaker type) of autosomal dominant inheritance are presented. The five types of olivopontocerebellar atrophy are differentiated on the basis of clinical symptoms and the mode of inheritance. Its clinical symptoms are varied but the cerebellar ataxia of different extent is present in every case which may be followed by pyramidal and extrapyramidal symptoms. Clear differentiation from the other types is based on the destruction of the nuclei of cranial cerebral nerves (IX, X, XII).
