Uncrossed epileptic seizures in Joubert syndrome

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 seiz...

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Bibliographic Details
Published in:BMJ case reports 2015-05, Vol.2015, p.bcr2014207719
Main Authors: López Ruiz, Pedro, García García, Maria Eugenia, Dicapua Sacoto, Daniela, Marcos-Dolado, Alberto
Format: Article
Language:English
Subjects:
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
Europe (West)
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
Unusual Association of Diseases/Symptoms
White
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Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-207719