Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia
Chan, L.Y.; Balasubramaniam, S.; Sunder, R.; Jamalia, R.; Karunakar, T.V.N.; Alagaratnam, J.
Medical Journal of Malaysia 66(5): 497-498
2011
ISSN/ISBN: 0300-5283 PMID: 22390110 Document Number: 649259
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.
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