Abstract
Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations.
MeSH terms
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Abnormalities, Multiple
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Cerebellar Diseases / diagnosis*
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Cerebellar Diseases / genetics
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Cerebellar Diseases / pathology*
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Cerebellum / pathology*
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Cerebral Palsy / diagnosis*
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Diagnosis, Differential
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Eye Abnormalities / diagnosis*
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Eye Abnormalities / genetics
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Eye Abnormalities / pathology*
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Female
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Genes, Recessive
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Humans
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Infant
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Kidney Diseases, Cystic / diagnosis*
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Kidney Diseases, Cystic / genetics
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Kidney Diseases, Cystic / pathology*
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Magnetic Resonance Imaging
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Retina / abnormalities*
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Retina / pathology
Supplementary concepts
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Agenesis of Cerebellar Vermis