567 THE CHERRY RED SPOT-MYOCLONUS SYNDROME DUE TO NEUR-1 AMINIDASE DEFICIENCY
نویسندگان
چکیده
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 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...
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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 کاملCompartment Syndrome of the Calf Due to Nicolau Syndrome
We report a case of Nicolau syndrome in a 15 months old girl following of an intramuscular injection of penicillin 6.3.3 in her left buttock. This case is unique because she developed compartment syndrome in her left calf far from her injection site. Her toe’s tips gangrened in the course of her ailment. We hypothesized that the compartment syndrome might be produced by a probable intra-arteri...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00572