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$Unique_ID{BRK03701}
$Pretitle{}
$Title{Empty Sella Syndrome}
$Subject{Empty Sella Syndrome Empty Sella Turcica Achard-Thiers Syndrome
Craniopharyngioma Meningioma of the Tuberculum Sella Optic Glioma}
$Volume{}
$Log{}

Copyright (C) 1989 National Organization for Rare Disorders, Inc.

635:
Empty Sella Syndrome

** IMPORTANT **
It is possible that the main title of this article (Empty Sella Syndrome)
is not the name you expected.  Please check the SYNONYM list to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Empty Sella Turcica

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

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

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your physician and/or the agencies listed in the "Resources" section
of this report.

Empty Sella Syndrome is a genetic brain disorder transmitted through
autosomal dominant genes.  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.
This disorder affects mostly obese, middle-aged women.

Primary and a secondary types of the disorder are distinguished by the
exact cause.

Symptoms

Empty Sella Syndrome is characterized by attacks of unconsciousness
(syncope), recurrent headaches in the forehead and temple areas, impairment
of vision, obesity, and diabetes mellitus.  Abnormally elevated blood
pressure (hypertension), and intolerance to cold usually also occur.
Enlarged hands and feet, discharge of cerebrospinal fluid through the nose,
excessive body hair (hirsutism) in women, and unusual sexual features in men
may occur including a lower than normal sex drive and excessive development
of male breast tissue (gynecomastia).

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 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 Population

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.)

Craniopharyngiomas 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.

Therapies:  Standard

Empty Sella Syndrome is diagnosed by testing hormone levels, neurological
tests and CT (computed tomography) scanning.  Treatment is symptomatic and
supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through April
1989.  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.

Resources

For more information on Empty Sella Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

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.

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick;  Johns
Hopkins University Press, 1988.  P. 226.