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Empty Sella Syndrome

Important
It is possible that the main title of the report Empty Sella Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms

* Empty Sella Turcica

Disorder Subdivisions

* None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

* Achard-Thiers Syndrome
* Craniopharyngioma
* Meningioma of the Tuberculum Sella
* Optic Glioma

General Discussion

The primary from of empty sella syndrome is a rare inherited disorder of the brain that is transmitted as an autosomal dominant trait. The disorder is characterized by an empty space filled with cerebrospinal fluid in the sella turcica area of the brain. The area fills with fluid as a result of a defect in the sella diaphragm. Symptoms and findings may include unusual facial features, a highly-arched palate, moderate short stature, increased bone density (osteosclerosis), and normal pituitary function.

The secondary form of this disorder is caused by another underlying disorder or defect (e.g., surgery, radiation therapy, etc.). In the idiopathic form of the disease, the exact cause in not known. This form of the disorder affects mostly obese, middle-aged women.
Symptoms

Empty sella syndrome is characterized by attacks of unconsciousness (syncope), recurrent headaches in the forehead and temple areas, and impairment of vision. Pituitary function may be normal, elevated, or depressed. It may occur in association with obesity or diabetes mellitus. Abnormally elevated blood pressure (hypertension) and intolerance to cold may also be present.

Other symptoms and physical findings in the primary form of empty sella syndrome may include increased bone density (osteosclerosis), multiple protrusions of the membranes of the brain or spinal cord through a defect in the skull or spinal cord (meningocele), moderate short stature, unusual facial features (e.g., highly-arched palate, unusually small jaw, etc.).
Causes

In the primary form Empty Sella Syndrome is inherited through autosomal dominant genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Secondary Empty Sella Syndrome may have various causes: The empty sella may be a birth defect; it may be caused by a pituitary cyst or tumor (adenoma); radiation of the pituitary gland; surgical removal of a pituitary tumor or of the whole pituitary (hypophyseal) gland.

Affected Populations

Empty Sella Syndrome is a rare disorder that rarely affects males. It usually affects overweight middle-aged women, but in very rare cases it may be found in children.

Related Disorders

Symptoms of the following disorders can be similar to those of Empty Sella Syndrome. Comparisons may be useful for a differential diagnosis:

Achard-Thiers Syndrome is characterized by diabetes associated with male characteristics (virilization) in post-menopausal women. The adrenal gland's overproduction of male hormones (androgens) and other adrenocortical hormones causes the syndrome. Untreated, the disorder may occasionally lead to excessively high blood pressure (hypertension) and/or coronary artery disease. (For more information, choose "Achard" as your search term in the Rare Disease Database.)

Craniopharingiomas are derived from Rathke's pouch inside the brain and usually develop in a location above the sella turcica. These pouchlike (cystic) tumors can invade the hypothalamus; extend into and erode the sella turcica; and invade the third ventricle of the brain, producing obstructive hydrocephalus (water on the brain). This results in excessive pressure inside the skull with swelling of the optic disk (papilledema). Craniopharyngiomas may also involve the optic nerve and cause visual field abnormalities. The cyst fluid may accumulate and cause rapid enlargement of the cyst and progressive symptoms. Diabetes insipidus is initially present in 15 percent of patients and almost invariably follows attempted surgical removal of the tumor. Anterior pituitary hormone deficiency occurs. Craniopharyngiomas often occur during childhood and have a peak incidence during the second decade of life.

Meningiomas are benign, slow-growing tumors, classified as brain tumors, but actually growing in the protective membranes that surround the brain (meninges). Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body. Symptoms vary according to the size and location of the tumor. (For more information, choose "Meningioma" as your search term in the Rare Disease Database.)

Optic Glioma is a slow-growing tumor of the optic nerve or optic chiasm, usually occurring in children. It is characterized by visual loss in one eye, often with secondary strabismus (eyes not looking in parallel directions), followed by bulging of the eye (proptosis) and loss of eye movement. This tumor occasionally extends to the third ventricle of the brain.

Standard Therapies

Diagnosis:
Empty sella syndrome is diagnosed by testing certain hormone levels as well as tests involving the nervous system such as a CT (computed tomography) scan or magnetic resonance imaging (MRI).

Treatment:
Hormone replacement therapy may be instituted in individuals with empty sella syndrome. Other treatment is symptomatic and supportive.
References

References
THE "EMPTY SELLA" IN CHILDHOOD: D.C. Costigan, et al.; Clin Pediatr (Phila) (August 1984: issue 23(8)). Pp. 437-440.

SUBARACHNOID HEMORRHAGE WITH NORMAL CEREBRAL ANGIOGRAPHY: A PROSPECTIVE STUDY ON SELLAR ABNORMALITIES AND PITUITARY FUNCTION: P. Bjerre, et al.; Neurosurgery (December 1986: issue 19(6)). Pp. 1012-1015.

MRI AND CT OF SELLAR AND PARASELLAR DISORDERS: M.H. Naheedy, et al.; Radiol Clin North America (July 1987: issue 25(4)). Pp. 819-847.

ONLINE MENDELIAN INHERITANCE IN MAN. Victor A. McKusick, Editor; Entry number 130720. Last update 7/10/95. URL: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?130720.

EMPTY SELLA SYNDROME. Merle P, Georget A, Goumy P, Jarlot D. Primary empty sella turcica in children: report of two familial cases. Pediat Radiol (1979;8). Pp. 209-212.
Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
TDD: (914)997-4764
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/NINDS Brain Resources and Information Network
PO Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Internet: http://www.ninds.nih.gov/

Genetic Alliance
4301 Connecticut Avenue NW
Suite 404
Washington, DC 20008-2304
USA
Tel: 2029665557
Fax: 2029668553
Tel: 8003364363
Email: information@geneticalliance.org
Internet: http://www.geneticalliance.org

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 4/11/1999
Copyright 1989, 1998, 1999 National Organization for Rare Disorders, Inc.

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