A Case Refort of Sandhoff Disease
Korean Journal of Ophthalmology
; : 68-72, 2005.
Article
in En
| WPRIM
| ID: wpr-226710
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Optic Disk
/
Retinal Diseases
/
Sandhoff Disease
/
Atrophy
/
Thalamus
/
Beta-N-Acetylhexosaminidases
/
Magnetic Resonance Imaging
/
Ocular Motility Disorders
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Cerebral Cortex
/
Isoenzymes
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Korean Journal of Ophthalmology
Year:
2005
Document type:
Article