RÉSUMÉ
Sialidosis is a rare autosomal recessive genetic disorder, and has a series of clinical symptoms and signs caused by neuraminidase 1 ( NEU1) gene mutations. This article reviews the etiology, clinical features, diagnoses, treatments and prognoses of sialidosis in order to improve the understanding and diagnosis of this disease and reduce the misdiagnosis of this disease.
RÉSUMÉ
Jeavons syndrome is a rare type of childhood onset photosensitive epilepsy syndrome, which is characterized by eyelid myoclonic and absences seizure, photosensitivity, eye closure-induced seizure or eletroencephalographic (EEG) epileptiform discharges. Jeavons syndrome is often underdiagnosed and misdiagnosed. Jeavons syndrome has its unique epileptogenic mechanisms, and theclinical classification is always closely related to its treatments and prognoses. This article reviews the latest development of Jeavons syndrome in order to enhance the understanding of Jeavons syndrome.