title: Uncrossed epileptic seizures in Joubert syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, Hospital Clínico San Carlos, Madrid, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: López Ruiz
authors.affiliation: Department of Neurology, Hospital Clínico San Carlos, Madrid, Madrid, Spain.
authors.forename: Maria Eugenia
authors.initials: ME
authors.lastname: García García
authors.affiliation: Department of Neurology, Hospital Clínico San Carlos, Madrid, Madrid, Spain.
authors.forename: Daniela
authors.initials: D
authors.lastname: Dicapua Sacoto
authors.affiliation: Department of Neurology, Hospital Clínico San Carlos, Madrid, Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Marcos-Dolado
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D001933:Brain Stem / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging; D004827:Epilepsy / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D005124:Eye Abnormalities / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008636:Mesencephalon / Q000473:pathology*; D059906:Neuroimaging; D011712:Pyramidal Tracts / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology