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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency.

Recent studies have suggested that a deficiency of alpha 1-antitrypsin may be a genetic risk factor for the development of intracranial aneurysms and arterial fibromuscular dysplasia. The authors report a 16-year-old girl with a history of lung disease who suffered a cerebral hemorrhage due to the rupture of a giant intracranial aneurysm arising from the middle cerebral artery. This fusiform aneurysm was associated with fibromuscular dysplasia of the intimal type. She was found to have an unusual alpha 1-antitrypsin deficiency (PiMP phenotype). This case provides further evidence of an underlying arteriopathy in alpha 1-antitrypsin deficiency.[1]

References

  1. Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency. Schievink, W.I., Puumala, M.R., Meyer, F.B., Raffel, C., Katzmann, J.A., Parisi, J.E. J. Neurosurg. (1996) [Pubmed]
 
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