Ataxia telangiectasia

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

↑ ^1.0 ^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.
↑ 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.
↑ URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.

[Ref_PBoD8_1323-1] 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.

[Ref_PCPBoD8.7C679-2] 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.

[1]

[2]

[3]

Ataxia telangiectasia

Microsopic

References

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