title: Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.
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.
authors.affiliation: Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors.forename: Tomomi
authors.initials: T
authors.lastname: Hayase
authors.forename: Jun
authors.initials: J
authors.lastname: Shimizu
authors.forename: Tamako
authors.initials: T
authors.lastname: Goto
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Nozaki
authors.forename: Masato
authors.initials: M
authors.lastname: Mori
authors.forename: Naoto
authors.initials: N
authors.lastname: Takahashi
authors.forename: Eiji
authors.initials: E
authors.lastname: Namba
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002675:Child, Preschool; D016207:Cytokines / Q000378:metabolism*; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005990:Glycerol / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D013661:Tay-Sachs Disease / Q000188:drug therapy / Q000378:metabolism* / Q000473:pathology*
chemical_list: D000893:Anti-Inflammatory Agents; D016207:Cytokines; D003907:Dexamethasone; D005990:Glycerol