A Case Refort of Sandhoff Disease
Korean Journal of Ophthalmology
; : 68-72, 2005.
Article
en En
| WPRIM
| ID: wpr-226710
Biblioteca responsable:
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.
Palabras clave
Texto completo:
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Índice:
WPRIM
Asunto principal:
Disco Óptico
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Enfermedades de la Retina
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Enfermedad de Sandhoff
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Atrofia
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Tálamo
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Beta-N-Acetilhexosaminidasas
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Imagen por Resonancia Magnética
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Trastornos de la Motilidad Ocular
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Corteza Cerebral
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Isoenzimas
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Korean Journal of Ophthalmology
Año:
2005
Tipo del documento:
Article