Résumé
Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.
Sujets)
Humains , Atrophie , Encéphale , Imagerie par résonance magnétique , Muscles , Myotonie , Dystrophie myotonique , Ophtalmoplégie , Paralysie , TriplésRésumé
The Wallenberg's syndrome is produced by infarction of lateral medulla. Isolated ipsilateral axial lateropulsion without other common symptoms of Wallenberg syndrome has rarely been reported as manifestation of lateral medullary infarction. The responsible anatomical structure of ipsilateral axial lateropulsion is still uncertain. We describe a patient with lateral medullary infarction who present with isolated ipsilateral axial lateropulsion without other symptoms of Wallenberg syndrome.