Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
نویسندگان
چکیده
منابع مشابه
Cherry 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...
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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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BACKGROUND Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and ...
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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...
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ژورنال
عنوان ژورنال: Journal of Movement Disorders
سال: 2021
ISSN: 2005-940X,2093-4939
DOI: 10.14802/jmd.20119