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KMID : 0352119930090030318
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Journal of Kyung Hee University
1993 Volume.9 No. 3 p.318 ~ p.322
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Two Cases Suspicious of Sandhoff's Diseases
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Abstract
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Sandhoff's disease is a disorder characterized by irritability, hyperacusia, hypotonia, opisthotonos, megalencephaly, seizure and cherry-red spot in macula, which is caused by the deficiency of hexosaminidase A and B. The mean age at presentation
is
about 3 to 6 months and the patient expires from a respiratory infection before 5 years. Hepatosplenomegaly, when presented, is characteristic of sandhoff's diseases.
We expierenced two caes of suspicious Sandhoff's disease, presented with irritability, hyperacusia, hypotonia, megalencephaly, seizure and hepatosplenomegaly. Fundoscopy showed cherry-red spot, brain MRI cerebral and cerebellar atrophy with
prominent
ventricle, EEG periodic polyspikes, which was compatible with Sandhoff's disease.
We presented two cases of suspicious of Sandhoff's disease with brief review of the literatures.
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KEYWORD
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