Macular cherry red spot is an important diagnostic marker in children with myoclonic epilepsies
نویسندگان
چکیده
منابع مشابه
Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.
THE typical ophthalmoscopic picture of a "cherry-red spot" is only one of the pathognomonic elements of infantile amaurotic idiocy, or Tay-Sachs' lipoidotic ganglioside disease (Danis, Begaux, and Decock, 1957). A similar picture was also observed in Niemann-Pick disease (sphingomyelin lipoidosis disease) in about 60 per cent. of cases (Videbaek, 1949) and even in two cases of Gaucher's cerebro...
متن کاملAdult Onset Familial Cherry-Red Spot Myoclonus
We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive...
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متن کاملProgressive myoclonic epilepsies
The causal disease Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder that has the highest incidence among the progressive myoclonus epilepsies worldwide (Berkovic et al. 1986; Marseille Consensus Group 1990). It is characterized by stimulussensitive myoclonus, and tonic-clonic epileptic seizures. As EPM1 progresses, patien...
متن کاملTreatment of myoclonic epilepsies
Despite the fact that there are many descriptions of the pathophysiology of myoclonic seizures, and some clear descriptions of the different myoclonic epilepsy syndromes, relatively little has been written on their treatment. However, when reviewing clinical data, the limitations of such in the treatment of myoclonus have to be considered. Myoclonus is often not the only seizure type within an ...
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ژورنال
عنوان ژورنال: International Journal of Epilepsy
سال: 2016
ISSN: 2213-6320,2213-6339
DOI: 10.1016/j.ijep.2016.10.002