Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics
Arq. neuropsiquiatr
; 56(1): 18-23, mar. 1998. ilus, tab
Article
em En
| LILACS
| ID: lil-212437
Biblioteca responsável:
BR1.1
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 austin.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Encéfalo
/
Síndrome do Cromossomo X Frágil
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
Idioma:
En
Revista:
Arq. neuropsiquiatr
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
1998
Tipo de documento:
Article
País de publicação:
Brasil