Joubert syndrome: large clinical variability and a unique neuroimaging aspect

Arquivos de Neuro-Psiquiatria

Emília Katiane Embiruçu Leão¹  Marcília Martyn Lima¹  Otacílio De Oliveira Maia Júnior¹  Juliana Parizotto¹  Fernando Kok¹ 

[1] ,University of São Paulo Clinical Hospital Departments of Child Neurology and OphthalmologySão Paulo SP ,Brazil

关键词: Joubert syndrome;    molar tooth sign;    cerebellar malformation;    síndrome de Joubert;    sinal do dente molar;    malformação de cerebelo;   

DOI  :  10.1590/S0004-282X2010000200023

来源: SciELO

【 摘 要 】

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.

【 授权许可】

CC BY   
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