Uncrossed epileptic seizures in Joubert syndrome

BMJ Case Rep. 2015 May 22:2015:bcr2014207719. doi: 10.1136/bcr-2014-207719.


Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncles do not decussate. Epileptic seizures are uncommon. We present a case of a 28-year-old man with a background of Leber's congenital amaurosis with nephronophthisis, requiring kidney transplantation, and mental retardation, who developed epileptic seizures consisting of a short muffled cry and involuntary shaking movements of the extremities beginning in the left upper limb; these episodes lasted several seconds and occurred in clusters. Simultaneous video-EEG recording showed an ictal pattern in the left frontal lobe. Brain MRI revealed the pathognomonic 'molar tooth sign'; diffusion tensor imaging (DTI)-tractography showed a lack of decussation of both corticospinal tracts. To the best of our knowledge, this is the first time that DTI-tractography has been used to uncover the anatomical substrate underlying the semiology of epileptic seizures.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Adult
  • Brain Stem / abnormalities*
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Diffusion Magnetic Resonance Imaging*
  • Epilepsy / etiology
  • Epilepsy / pathology*
  • Epilepsy / physiopathology
  • Eye Abnormalities / complications
  • Eye Abnormalities / pathology
  • Eye Abnormalities / physiopathology
  • Humans
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / pathology
  • Kidney Diseases, Cystic / physiopathology
  • Male
  • Mesencephalon / pathology*
  • Neuroimaging
  • Pyramidal Tracts / abnormalities*
  • Retina / abnormalities*
  • Retina / pathology
  • Retina / physiopathology

Supplementary concepts

  • Agenesis of Cerebellar Vermis