A Case Refort of Sandhoff Disease
Korean Journal of Ophthalmology
;
: 68-72, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-226710
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Disco Óptico
/
Doenças Retinianas
/
Doença de Sandhoff
/
Atrofia
/
Tálamo
/
Beta-N-Acetil-Hexosaminidases
/
Imageamento por Ressonância Magnética
/
Transtornos da Motilidade Ocular
/
Córtex Cerebral
/
Isoenzimas
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
2005
Tipo de documento:
Artigo
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