Síndrome do X frágil: características clínicas, eletrencefalográficas e de imagem

We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior portions of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum - basal frontal regions - parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.Estudamos 11 pacientes (9 do sexo masculino) com diagnóstico citogenético de síndrome do X frágil (SXF) com o objetivo de se investigar o circuito neuronal afetado nesta entidade. As idades variaram de 8 a 19 anos. Todos os indivíduos apresentaram pavilhões auriculares grandes, faces alongadas e traços autistas. Dez deles tinham retardo mental grave. Detectou-se a presença de distúrbio da atenção em 10 pacientes. O eletrencefalograma revelou-se anormal em 6 de 10 indivíduos examinados, mostrando descargas epileptiformes focais predominantemente em áreas frontais e parietais. Todos foram submetidos a ressonância magnética craniana que se revelou anormal em 8. As anormalidades mais importantes foram redução do verme cerebelar e aumento do IV ventrículo. Realizou-se tomografia por emissão de photon único (SPECT) em 7 pacientes. Todos os exames estavam alterados sendo o principal achado a hipoperfusão das porções inferiores dos lobos frontais. Com base no quadro clínico, achados neuropsicológicos e resultados dos exames funcionais e de imagem, sugerimos que a SXF apresenta disfunção de ampla rede neuronal: cerebelo regiões fronto basais lobos parietais. A literatura aponta para a presença de distúrbio envolvendo o mesmo circuito neuronal em pacientes autistas