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.
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