Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics
Arq. neuropsiquiatr
;
56(1): 18-23, mar. 1998. ilus, tab
Article
in English
| LILACS
| ID: lil-212437
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Brain
/
Fragile X Syndrome
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
1998
Type:
Article
Similar
MEDLINE
...
LILACS
LIS