Myoclonic Epilepsy in Lysosomal Storage Disorders
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چکیده
منابع مشابه
Metabolic Causes of Epileptic Encephalopathy
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and generalized epilepsies which in pa...
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Myoclonic epilepsies are frequently related to mitochondrial disorders, lysosomal disorders and proteinopathic neurodegenerative diseases. Familial cortical myoclonic tremor with epilepsy (FCMTE) is a genetic form of myoclonic epilepsy. FCMTE is defined by an autosomal dominant inheritance, adult onset cortical myoclonic tremor and inconstant seizures. Electrophysiologic examinations show corti...
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A 15-year-old boy presented with progressive myoclonic epilepsy and unbalance gaits for 4 years. Slit lamp examination showed a punctate cataract and funduscopic examination revealed bilateral macular cherry-red spots. Macular scan of spectral domain optical coherence tomography (SD-OCT) showed hyperreflectivity of the inner retinal layer and apparent hyperreflectivity of the photoreceptor laye...
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تاریخ انتشار 2017