RESUMO
Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual-spatial learning deficits, consistent with nonverbal learning disability.
Assuntos
Aberrações Cromossômicas , Deficiências do Desenvolvimento/genética , Genes Dominantes/genética , Deficiências da Aprendizagem/genética , Heterotopia Nodular Periventricular/genética , Adulto , Ventrículos Cerebrais/patologia , Criança , Formação de Conceito , Deficiências do Desenvolvimento/diagnóstico , Dominância Cerebral/fisiologia , Lobo Frontal/patologia , Humanos , Inteligência/genética , Deficiências da Aprendizagem/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Matemática , Transtornos da Memória/diagnóstico , Transtornos da Memória/genética , Testes Neuropsicológicos , Orientação , Reconhecimento Visual de Modelos , Heterotopia Nodular Periventricular/diagnóstico , Resolução de Problemas , Escalas de WechslerRESUMO
Perinatal stroke may affect cognitive development, but few studies have addressed the details of cognitive function after perinatal stroke. The present study was designed to compare the neuropsychologic features of five sets of twins discordant for perinatal stroke. All of the affected children had unilateral middle cerebral artery infarction (two left, three right); four of the five infarcts were large-branch, affecting the entire M1 territory. Three of the five affected children had comorbid epilepsy. Measures of intelligence, memory, language, attention, executive function, visual-motor integration, and fine motor skills were administered to children at a median age of 5 years (range, 5-8 years). Relative to their unaffected co-twins, the twins with perinatal stroke exhibited lower levels of full scale (p=0.005), verbal (p=0.006), and nonverbal (p=0.005) intelligence. Children with perinatal stroke also showed significant deficits on tests of verbal memory (p=0.041), receptive language (p=0.011), verbal fluency (p=0.019), and visual attention (p=0.011), compared with their unaffected co-twins. Twin gestation may be a risk factor for poor cognitive outcome after perinatal stroke. Large infarct size and comorbid epilepsy may have contributed to some of the poor cognitive outcomes in this cohort.
