Abstract
Sialidosis, a rare lysosomal storage disorder is caused by a deficiency of the enzyme α-N-acetyl neuraminidase, resulting from mutations in the NEU1 gene1-5. Its main phenotypes are Sialidosis types I (milder form) and II (earlier onset)1 -5. Sialidosis type II is characterized by developmental delay, macular cherry-red spot, viscero-megaly, coarse facies, dysostosis multiplex, and myoc-lonus1-5 . We report a case of status epilepticus (SE) in a patient with Sialidosis type II which had good response to topiramate […] Topiramate is effective for status [...]
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