Author/Authors :
Seylanian Toosi, Farrokh Department of Radiology - Mashhad University of Medical Sciences, Mashhad, Iran , Boloursaz, Samineh Department of Radiology - Mashhad University of Medical Sciences, Mashhad, Iran , Abbasi, Bita Department of Radiology - Mashhad University of Medical Sciences, Mashhad, Iran , Hekmat, Reza Department of Nephrology - Mashhad University of Medical Sciences, Mashhad, Iran , Mortazavi Ardestani, Reihaneh Department of Radiology - Mashhad University of Medical Sciences, Mashhad, Iran , Mohajerzadeh, Mina Department of Radiology - Mashhad University of Medical Sciences, Mashhad, Iran
Abstract :
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.
