Joubert syndrome: large clinical variability and a unique neuroimaging aspect

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...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2010-04, Vol.68 (2), p.273-276
Main Authors: Leão, Emília Katiane Embiruçu, Lima, Marcília Martyn, Maia, Jr, Otacílio de Oliveira, Parizotto, Juliana, Kok, Fernando
Format: Article
Language:English
Subjects:
Adolescent
Cerebellum - abnormalities
Cerebellum - pathology
Child
Child, Preschool
Female
Humans
Intellectual Disability
Kidney Diseases - congenital
Kidney Diseases - genetics
Kidney Diseases - pathology
Magnetic Resonance Imaging
Male
NEUROSCIENCES
Ocular Motility Disorders - congenital
Ocular Motility Disorders - genetics
Ocular Motility Disorders - pathology
PSYCHIATRY
Syndrome
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Summary: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.
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/S0004-282X2010000200023