Uncrossed epileptic seizures in Joubert syndrome.
BMJ Case Rep
; 20152015 May 22.
Article
em En
| MEDLINE
| ID: mdl-26002775
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tratos Piramidais
/
Retina
/
Tronco Encefálico
/
Mesencéfalo
/
Cerebelo
/
Imagem de Difusão por Ressonância Magnética
/
Epilepsia
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2015
Tipo de documento:
Article