Korean J Ophthalmol.  2005 Mar;19(1):68-72. 10.3341/kjo.2005.19.1.68.

A Case Refort of Sandhoff Disease

Affiliations
  • 1Department of Ophthalmology, College of Medicine, Chungnam National University, Daejeon, Korea. irismd@cnuh.co.kr

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.

Keyword

beta-hexosaminidase A and B; Cherry red spot; Optic atrophy; Sandhoff disease

MeSH Terms

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

Figure

  • Fig. 1 Ocular fundus photographs (A ~ C). Right eye shows a cherry red spot in the macula and a pale optic disc (A, B). Left eye also shows a cherry red spot in the macula and a pale optic disc (C).

  • Fig. 2 MRI of the brain (A~D). The T2-weighted MRI shows low signal intensity (black arrows) at the thalamus (A) and, scattered high intensity (white arrows) at the white matter (B). Diffuse cerebral cortex atrophy and cerebellar vermian atrophy appear on the T2-weighted MRI (C, D).


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