Cowden syndrome is a rare autosomal dominant disease. It is characterized by multiple
noncancerous tumorlike growths called hamartomas, which typically are found in the
skin, oral mucosa, thyroid, breast, and gastrointestinal tract. It carries with it
a potential risk of malignant transformation, especially of the breast and thyroid.
In 80% of the cases, the human tumor suppressor gene, phosphatase and tensin homolog
(PTEN), is mutated in the germ line. We report a patient with Cowden syndrome who presented
with generalized seizure and left anterior temporal hemorrhage and a nontraumatic
subarachnoid hemorrhage due to multiple intracranial arteriovenous fistulas (AVFs).
We discuss previous reports about vascular malformations in patients with Cowden syndrome
and PTEN mutations. Importantly, we hypothesize that the production of multiple AVFs in our
patient was associated with PTEN mutation.
Key Words
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References
- Cowden syndrome: a critical review of the clinical literature.J Genet Couns. 2009; 18: 13-27
- Johns Hopkins University, Baltimore, MD.(MIM Number: {158350}: {03/14/2016}; World Wide Web URL)
- Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.Nat Genet. 1997; 16: 64-67
- PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Hum Mol Genet. 1999; 8: 1461-1472
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Article info
Publication history
Published online: April 19, 2016
Accepted:
March 27,
2016
Received in revised form:
March 20,
2016
Received:
February 19,
2015
Identification
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2016.03.048
Copyright
© 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.
