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 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 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...
متن کاملTay-Sach disease with "cherry-red spot"--first reported case in Malaysia.
We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.
متن کامل'Cherry red spot' in a patient with Tay-Sachs disease: case report.
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs d...
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ژورنال
عنوان ژورنال: Journal of Postgraduate Medicine
سال: 2008
ISSN: 0022-3859
DOI: 10.4103/0022-3859.39196