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Tuberous Sclerosis Complex in Adult Women FREE

[+] Article and Author Information

The full report is titled “Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences.” It is in the 21 June 2011 issue of Annals of Internal Medicine (volume 154, pages 806-813). The authors are D. Seibert, C.H. Hong, F. Takeuchi, C. Olsen, O. Hathaway, J. Moss, and T.N. Darling.


Ann Intern Med. 2011;154(12):I-48. doi:10.7326/0003-4819-154-12-201106210-00004
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What is the problem and what is known about it so far?

Tuberous sclerosis complex (TSC) is caused by tumors that grow in multiple organs. It is often recognized in children who develop characteristic skin lesions, seizures, and cognitive deficiencies. How the disease manifests in adults is less understood.

Why did the researchers do this particular study?

To understand the presentation and manifestations of TSC in adult patients.

Who was studied?

79 women who enrolled in an observational study at the National Institutes of Health.

How was the study done?

A careful history and physical examination were performed, along with x-rays and measurements of lung function.

What did the researchers find?

Approximately two thirds of the women with TSC reported problems during childhood that were consistent with the disease but were not recognized at the time. In the remaining women, some features of TSC may have been present earlier in life but were not sufficient to make a diagnosis. Life-threatening problems occurred in some women with TSC, including tumors that damaged the lungs or kidneys.

What were the limitations of the study?

Full medical records during childhood were not available to confirm what abnormalities were present or recognized. The women in this study may have had fewer or milder neurologic problems (such as seizures) but more severe problems in other organs (such as the lungs or kidneys) than did other patients with TSC.

What are the implications of the study?

Tuberous sclerosis complex may not be recognized or may cause problems until adulthood in some patients. Delays in recognizing the problem may delay therapy.

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