Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

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.

Bibliographic Details

Main Authors:	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.
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 1998
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100003
Tags:	Add Tag No Tags, Be the first to tag this record!