Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease

Brain Dev. 2010 Mar;32(3):244-7. doi: 10.1016/j.braindev.2009.01.007. Epub 2009 Mar 10.

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.

Publication types

  • Case Reports

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use
  • Child, Preschool
  • Cytokines / metabolism*
  • Dexamethasone / therapeutic use
  • Female
  • Glycerol / therapeutic use
  • Humans
  • Magnetic Resonance Imaging / methods
  • Nerve Fibers, Myelinated / pathology*
  • Tay-Sachs Disease / drug therapy
  • Tay-Sachs Disease / metabolism*
  • Tay-Sachs Disease / pathology*

Substances

  • Anti-Inflammatory Agents
  • Cytokines
  • Dexamethasone
  • Glycerol