Uncrossed epileptic seizures in Joubert syndrome
| Autor: | M.E. García, Pedro López Ruiz, Alberto Marcos-Dolado, Daniela Dicapua Sacoto |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Decussation Pyramidal Tracts Neuroimaging Ciliopathies Article Retina Joubert syndrome Involuntary shaking Mesencephalon Pathognomonic Nephronophthisis Cerebellum medicine Humans Abnormalities Multiple Ictal Eye Abnormalities Epilepsy business.industry General Medicine Anatomy Kidney Diseases Cystic medicine.disease Diffusion Magnetic Resonance Imaging nervous system Corticospinal tract medicine.symptom business Brain Stem |
| Zdroj: | Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid |
| ISSN: | 1757-790X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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