Macular cherry red spot is an important diagnostic marker in children with myoclonic epilepsies

We present a case series highlighting the importance of a detailed fundoscopic eye examination; particularly when occurring in conjunction with a clinical history of myoclonus, developmental regression and other systemic features in clinching an etiologic diagnosis of storage disorder, specifically, gangliosidosis and sialidosis in children with suspected progressive myoclonus epilepsies. The causes of macular cherry red spot (CRS) on fundoscopic examination are limited and in a given child may provide an important clue for narrowing the differential diagnoses and finally making an accurate diagnosis. Current literature on symptomatic myoclonus, cherry red spot and their occurrence in PME/PMA syndromes is also reviewed.

Source: International Journal of Epilepsy - October 29, 2016 Category: Neurology Source Type: research