Résumé
We report a case of Congenital peri-sylvian syndrome with intractable seizures, hypotonia and feeding problems since birth. MRI brain helped in making an early diagnosis and counselling parents.
Sujets)
Souffrance cérébrale chronique/congénital , Aqueduc du mésencéphale/malformations , Troubles de l'alimentation/étiologie , Électroencéphalographie , Épilepsie/diagnostic , Femelle , Humains , Nourrisson , Imagerie par résonance magnétique , Hypotonie musculaire/étiologie , Syndrome , Résultat thérapeutiqueRésumé
Moyamoya is probably an inherited vasocclusive disease first described in Japan and now reported from all over the world. Genetic linkage studies and study of the factors possibly involved in its pathogenesis have shed new light on this disease. There is some suggestion that the pathogenesis may vary between races. A number of revascularization procedures have been devised. There is still controversy regarding the timing and the type of surgery. Functional MRI and PET scanning may provide more objective criterion on the outcome of these procedures. Neuropsychological studies may also be of use in judging the benefits of surgery. In this review, some of the recent advances in the study of the genetics and pathogenesis of the disease are reviewed and the clinical manifestation and the role of surgery are discussed. Relative lack of literature from outside Japan and the Korean peninsula has hampered the understanding of the disease in other countries.