A case refort of Sandhoff disease.
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.
Yun
Yie-Min
YM
Department of Ophthalmology, College of Medicine, Chungnam National University, Daejeon, Korea.
Lee
Su-Na
SN
D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D015835:Ocular Motility Disorders / Q000175:diagnosis*; D009898:Optic Disk / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis*; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000201:enzymology; D013788:Thalamus / Q000473:pathology; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
D007527:Isoenzymes; D001619:beta-N-Acetylhexosaminidases