Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/11886
Type: Artigo de periódico
Title: Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics
Title Alternative: Síndrome do X frágil: características clínicas, eletrencefalográficas e de imagem
Author: GUERREIRO, MARILISA M.
CAMARGO, EDWALDO E.
KATO, MERY
MARQUES-DE-FARIA, ANTONIA P.
CIASCA, SYLVIA M.
GUERREIRO, CARLOS A.M.
MENEZES NETTO, JOSE R.
MOURA-RIBEIRO, MARIA VALERIANA L.
Abstract: 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.
Subject: síndrome do X frágil
RM
SPECT
autismo
fragile X syndrome
MRI
SPECT
autism
Editor: Academia Brasileira de Neurologia - ABNEURO
Rights: aberto
Identifier DOI: 10.1590/S0004-282X1998000100003
Address: http://dx.doi.org/10.1590/S0004-282X1998000100003
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100003
Date Issue: 1-Mar-1998
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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