Joubert syndrome labeled as hypotonic cerebral palsy
نویسندگان
چکیده
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.
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Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review
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