Loeys – Dietz syndrome

Loeys Dietz syndrome is a connective tissue disorder. It is characterized by aortic aneurysms in children. In Loeys –Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller size than other aneurysm, putting children with Loeys –Dietz at great risk for dying if the aneurysm is not identified and treated early. Loeys – Dietz syndrome is inherited genetic syndrome that tends to run in families.

loeys dietz syndrome

 

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Age/sex prevalance of Loeys Dietz Syndrome

Individuals of any age and sex can be affected by loeys-dietz syndrome.

Causes of Loeys Dietz syndrome

TGF – beta is a signaling molecule produced in the body that influence the growth , movement and activity of cells as well as the death of the cells by changing the way many genes within the cells . TGF – beta brings about the changes within the cells by binding to receptors on the surfaces of the cells .It is also known as result of mutations in the TGF –beta receptor I or TGF –beta receptor II. It cause changes in the receptor that prevent TGF –beta from working on the cells.

Loeys Dietz syndrome Signs and symptoms

Aortic aneurysms and abnormal organization of blood vessels.
There is presence or the absence of cranio-facial involvement. Early fusion of the skull bones called craniosynostosis, widely spaced eyes, cleft palate or split.
Physical abnormalities include defects at birth in the heart and brain, osteoporosis, skin changes and defects of the spine.

Investigation for Loeys Dietz syndrome

The diagnosis of Loeys –Dietz syndrome by X-ray, CT scan, MRI of the blood vessels.

Treatment for Loeys Dietz syndrome

To prolong the life expectancy the treatment for Loeys –Dietz syndrome is surgical repair of the aortic aneurysm.

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