Difference between revisions of "Ataxia telangiectasia"
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*Ataxia. | *Ataxia. | ||
*Telangiectasias - conjunctiva, skin.<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | *Telangiectasias - conjunctiva, skin.<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | ||
==Microsopic== | |||
Features: | |||
*Cerebellum:<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | |||
**Loss of Purkinje cells. | |||
**Loss of granule cells. | |||
*Peripheral nerves: | |||
**Amphicytes - '''key feature'''. | |||
***Schwann cells with "bizarre" nuclear enlargement (2-5X normal). | |||
==References== | ==References== | ||
Revision as of 03:42, 31 March 2011
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.
AT is characterized by:[2]
- 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).
- Amphicytes - key feature.
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.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.