A Case Refort of Sandhoff Disease.
- Author:
Yie Min YUN
1
;
Su Na LEE
Author Information
- Publication Type:Case Report
- Keywords: beta-hexosaminidase A and B; Cherry red spot; Optic atrophy; Sandhoff disease
- MeSH: Atrophy; Cerebral Cortex/*pathology; Child, Preschool; Female; Humans; Isoenzymes/deficiency; Lipid Metabolism, Inborn Errors/*diagnosis/enzymology; Magnetic Resonance Imaging; Ocular Motility Disorders/*diagnosis; Optic Disk/*pathology; Retinal Diseases/*diagnosis; Sandhoff Disease/*diagnosis/enzymology; Thalamus/pathology; beta-N-Acetylhexosaminidase/deficiency
- From:Korean Journal of Ophthalmology 2005;19(1):68-72
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
