Ataxia telangiectasia

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Ataxia telangiectasia, abbreviated AT, is rare autosomal recessive disorder,[1] characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the neurocutaneous syndromes. Death is typically in the teens.[2]

AT is characterized by:[3]

  • Immunodeficiency.
  • High propensity to develop malignancy.
  • Ataxia.
  • Telangiectasias - conjunctiva, skin.[1]

Microsopic

Features:

  • Cerebellum:[1]
    • Loss of Purkinje cells.
    • Loss of granule cells.
  • Peripheral nerves:
    • Amphicytes - key feature.
      • Schwann cells with "bizarre" nuclear enlargement (2-5X normal).

References

  1. 1.0 1.1 1.2 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1323. ISBN 978-1416031215.
  2. Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 679. ISBN 978-1416054542.
  3. URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.