| A Case Refort of Sandhoff Disease. |
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Yie Min Yun, Su Na Lee |
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Department of Ophthalmology, College of Medicine, Chungnam National University, Daejeon, Korea. irismd@cnuh.co.kr |
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| Abstract |
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Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures. Ophthalmologic examination revealed that the patient could not fixate her eyes on objects nor follow moving targets. A pale optic disc and a cherry red spot in the macula were seen in both eyes. Low signal intensity at the thalamus and high signal intensity at the cerebral white matter were noted in a T2-weighted brain MR image. A lysosomal enzyme assay using fibroblasts showed the marked reduction of both total beta-hexosaminidases, A and B. Based on the above clinical manifestations and laboratory findings, we diagnosed the patient as having Sandhoff disease. |
| Key Words:
beta-hexosaminidase A and B;Cherry red spot;Optic atrophy;Sandhoff disease |
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