Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

Arquivos de Neuro-Psiquiatria

Marilisa M. Guerreiro²  Edwaldo E. Camargo²  Mery Kato¹  Antonia P. Marques-de-faria²  Sylvia M. Ciasca²  Carlos A.m. Guerreiro²  Jose R. Menezes Netto¹  Maria Valeriana L. Moura-ribeiro² 

[1] ,Universidade Estadual de Campinas Faculdade de Ciências Médicas Departamentos de Neurologia, Radiologia e Genética Médica

关键词: fragile X syndrome;    MRI;    SPECT;    autism;    síndrome do X frágil;    RM;    SPECT;    autismo;   

DOI  :  10.1590/S0004-282X1998000100003

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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