Nickan Research Institute Journal of Renal Injury Prevention 2345-2781 6 2 2017 06 01 Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review 76 79 10.15171/jrip.2017.14 EN Farrokh Seylanian Toosi Samineh Boloursaz Bita Abbasi Reza Hekmat Reihaneh Mortazavi Ardestani Mina Mohajerzadeh Journal Article 10.15171/jrip.2017.14 Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome. With a neonate with Joubert syndrome in a family, antenatal diagnosis by ultrasound is crucial for future siblings.