منابع مشابه
Adult 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...
متن کاملCherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.
A 22 year old patient with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence is described. The myoclonus began at the age of 18 years. Focal myoclonus could easily be elicited by voluntary and passive movements, and by touch and electrical stimulation of median nerve. Somatosensory evoked potentials showed a high voltage early comp...
متن کاملCherry red spot in sialidosis (mucolipidosis type I).
tial for posterior dislocation of the donor corneal disc in aphakic eyes must be taken into consideration. Longer-lasting, higher-buoyancy gases (such as SF6) could be used as alternatives to air, but the possible toxic effect to endothelial cells should be elucidated. Correspondence: Dr Yoo, Cornea and External Diseases, Bascom Palmer Eye Institute, 900 NW 17th St, Miami, FL 33136 (syoo@med .m...
متن کاملTypical 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 کاملBilateral maculopathy simulating 'cherry-red spot' in a patient with Crohn's disease.
A 23-year-old man suffering from Crohn's disease developed a bilateral maculopathy simulating 'cherry-red spot' with vision impairment and normal electroretinogram during total parenteral hyperalimentation, when copper and zinc serum levels were considerably decreased. The maculopathy rapidly subsided after cessation of the parenteral hyperalimentation and the addition of cooper and zinc. The c...
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ژورنال
عنوان ژورنال: Neuro-Ophthalmology
سال: 2019
ISSN: 0165-8107,1744-506X
DOI: 10.1080/01658107.2019.1676264