Uncrossed epileptic seizures in Joubert syndrome

Pedro López Ruiz, Maria Eugenia García García, Daniela Dicapua Sacoto, Alberto Marcos-Dolado

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

7 Citas (Scopus)


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.

Idioma originalInglés
PublicaciónBMJ Case Reports
EstadoPublicada - 22 may. 2015
Publicado de forma externa


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