Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Arquivos de Neuro-Psiquiatria

Rafael Fabiano Machado Rosa²  Carla Graziadio²  Rene Lenhardt¹  Ronnie Peterson Marcondes Alves¹  Giorgio Adriano Paskulin²  Paulo Ricardo Gazzola Zen² 

[1] ,Federal University of Health Sciences of Porto Alegre Santa Casa Hospital Complex of Porto Alegre Porto Alegre RS ,Brazil

关键词: Goldenhar syndrome;    facial asymmetry;    central nervous system;    eye abnormalities;    síndrome de Goldenhar;    assimetria facial;    sistema nervoso central;    anormalidades do olho;   

DOI  :  10.1590/S0004-282X2010000100021

来源: SciELO

【 摘 要 】

OBJECTIVE: To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. METHOD: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. RESULTS: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%). CONCLUSION: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms.

【 授权许可】

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