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Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia

Chan LY 1 , Balasubramaniam S 2 , Sunder R 1 , Jamalia R 1 , Karunakar TV 1 , Alagaratnam J 1

Affiliations 

  • 1 Hospital Kuala Lumpur, Ophthalmology Department, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan, 50586, Malaysia,
  • 2 Hospital Kuala Lumpur, Paediatrics Department, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan, 50586, Malaysia
Med J Malaysia, 2011 Dec;66(5):497-8.
PMID: 22390110

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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