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Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia
L Y Chan1, S Balasubramaniam, R Sunder
1Hospital Kuala Lumpur, Ophthalmology Department, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan, 50586, Malaysia. lupins_17@hotmail.com
The Medical Journal of Malaysia
|March 7, 2012
Summary
We report a rare case of Tay-Sachs disease in a child, identified by a distinctive
Area of Science:
- Medical Genetics
- Ophthalmology
- Metabolic Disorders
Background:
- Tay-Sachs disease is a rare, inherited lysosomal storage disorder.
- It is caused by mutations in the HEXA gene, leading to a deficiency of the enzyme beta-hexosaminidase A.
- This deficiency results in the accumulation of GM2 gangliosides in cells, particularly neurons.
Observation:
- A 19-month-old Malay child presented with clinical signs suggestive of a lysosomal storage disorder.
- Ophthalmic examination revealed the characteristic 'cherry-red spot' in the retina.
- This finding is a significant clinical sign in certain metabolic diseases.
Findings:
- Molecular genetic studies were performed to confirm the diagnosis.
- The genetic analysis identified mutations consistent with Tay-Sachs disease.
- The presence of the 'cherry-red spot' was a key diagnostic indicator.
Implications:
- The 'cherry-red spot' is a valuable clinical sign for diagnosing Tay-Sachs disease and other lysosomal storage disorders.
- This case underscores the importance of ophthalmological examination in identifying inborn errors of metabolism.
- Early recognition through clinical clues like the 'cherry-red spot' can facilitate timely diagnosis and management.
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