| Literature DB >> 19278800 |
Tomomi Hayase1, Jun Shimizu, Tamako Goto, Yasuyuki Nozaki, Masato Mori, Naoto Takahashi, Eiji Namba, Takanori Yamagata, Mariko Y Momoi.
Abstract
We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and marked swelling in the white matter and basal nucelei of the right hemisphere. Her seizures and right hemisphere lesion improved with glycerol and dexamethasone treatment. When dexamethasone was discontinued, her symptoms worsened and lesions later appeared in the left hemisphere. Her cerebrospinal fluid showed elevated levels of the cytokines TNF-alpha and IL-5. It is considered that inflammation contributes to disease progression in Tay-Sachs disease.Entities:
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Year: 2009 PMID： 19278800 DOI： 10.1016/j.braindev.2009.01.007
Source DB: PubMed Journal: Brain Dev ISSN： 0387-7604 Impact factor: 1.961