CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0422/04229.txt

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$Unique_ID{BRK04229}
$Pretitle{}
$Title{Spina Bifida}
$Subject{Spina Bifida Rachischisis Posterior Neural Tube Defect SB Spina
Bifida Anterior Spina Bifida Cystica Spina Bifida Occulta Spina Bifida
Posterior Caudal Regression Syndrome Clubfoot Hydrocephalus}
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Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993
National Organization for Rare Disorders, Inc.

28:
Spina Bifida

** IMPORTANT **
It is possible that the main title of the article (Spina Bifida) is not
the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Rachischisis Posterior
     Neural Tube Defect
     SB

DISORDER SUBDIVISIONS:

     Spina Bifida Anterior
     Spina Bifida Cystica
     Spina Bifida Occulta
     Spina Bifida Posterior

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

     Caudal Regression Syndrome
     Clubfoot
     Hydrocephalus

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 personal physician and/or the agencies listed in the "Resources"
section of this report.


Spina Bifida is characterized by the lack of closure of the neural tube.
Part of the contents of the spinal canal may protrude through this opening.
In the most severe form, rachischisis, the opening is extensive.  Spina
Bifida may cause problems with bladder control, walking and a variety of
other problems, depending on the severity of the symptoms.

Symptoms

Patients with Spina Bifida can have a wide variety of symptoms and physical
findings based on the severity of the defect in the spine.   The mildest form
of the condition, Spina Bifida Occulta, causes few if any symptoms, and may
go undetected.  In this mild form, the lack of closure of the neural tube
affects only a small area of the spine and is found on x-rays.  The disorder
may be suspected because of a dimple or tuft of hair on the back overlying
the affected area.  Impaired bladder control is a common finding, even with
relatively mild forms of the condition.

In more severe forms of Spina Bifida a sac (meningocele or
miningomyelocele) may protrude from the lower back.  This sac may be small or
it may be as large as a grapefruit.  The meningocele may be covered with
skin, or the nerve tissue may be exposed.  Generally the sac contains
cerebrospinal fluid (CSF).

The malformation of the lower spinal cord causes abnormalities of the
lower trunk and extremities of varying severity.  If the condition is mild,
the person may only experience some muscle weakness and impaired skin
sensations.  In patients with meningocele, accumulation of cerebrospinal
fluid in the brain results in enlargement of the head (hydrocephalus) and
possible brain damage.

Although Spina Bifida is usually present at birth, it occasionally is
first seen during adolescence.   The rapid growth during this time stretches
the shortened nerves and may cause progressive weakness.

Causes

The exact cause of Spina Bifida is not known.  Hereditary and other prenatal
factors may contribute.   The role of vitamins and folic acid during
pregnancy is being investigated.  Prenatal medical care is important for the
development of a fetus.

Affected Population

Spina Bifida occurs in approximately 1 in 2,000 live births in the United
States.  The disorder is more frequent in Ireland and Wales and less common
in Israel and among the Jewish population in general.  Spina Bifida is also 3
to 4 times more common among lower socioeconomic groups of all cultures.

Related Disorders

Symptoms of the following disorder can be similar to those of Spina Bifida.
Comparison may be useful for a differential diagnosis:

Caudal Regression Syndrome is a rare disorder characterized by the
abnormal development of the lower (tail) end of the developing fetus.  A wide
range of abnormalities may occur.  There may be a partial absence of the
tail-bone at the lower end of the spine or there may be extensive
abnormalities of the lower vertebrae, pelvis and spine.  Symptoms may include
paralysis or numbness of the legs, underdeveloped muscles, clubfoot, kidney
abnormalities and pelvic swelling.  A less common abnormality associated with
Caudal Regression Syndrome is hydrocephalus.  (For more information on this
disorder, choose "Caudal Regression Syndrome" as your search term in the Rare
Disease Database).

The following disorders may be associated with Spina Bifida as secondary
characteristics.  They are not necessary for a differential diagnosis:

Hydrocephalus is a condition in which the dilated cerebral ventricles
(spaces in the brain) inhibit the normal flow of cerebrospinal fluid (CSF).
The fluid accumulates in the head and puts pressure on the brain.  The result
is an enlarged head.  Symptoms may include a thin, transparent scalp, a
bulging forehead and a downward gaze.  There may be convulsions, headache,
irritability, general weakness and problems with vision.  This disorder may
occur along with Spina Bifida.  (For more information on this disorder,
choose "Hydrocephalus" as your search term in the Rare Disease Database).

Clubfoot is a term used to describe several kinds of congenital ankle and
foot deformities.  Generally the heel turns outward from the midline and the
front part of the foot is elevated.  Clubfoot is not painful and generally
causes no problems until the infant begins to walk or stand.  At that point,
the defect causes the child to walk as if on a peg leg.  If both feet are
affected, the child usually walks on the balls of the feet.  This disorder
may occur along with Spina Bifida.  Muscle imbalance or spasticity may cause a
twisting of a normal foot in children with Spina Bifida.  (For more
information on this disorder, choose "Clubfoot" as your search term in the
Rare Disease Database).

Therapies:  Standard

The U.S. Public Health Service (PHS) advises women of childbearing age to
take 0.4 mg of Folic Acid daily, either through diet or low dose supplements.
Women are urged not to take more than 1.0 mg of folic acid daily unless
advised by a physician because high doses of folic acid can mask other
vitamin deficiencies.

The mildest cases of Spina Bifida may not require treatment.  The
moderate cases require a decision as to whether or not surgery is advisable.
Surgery may prevent the worsening of the condition in some instances, but
cannot restore the lost function.  In those extreme cases where the sac
(meningocele) breaks or appears about to break, immediate surgery becomes
essential.

Surgeons have operated on Spina Bifida patients of all ages beginning
from a few hours after birth.  When hydrocephalus is a complication, surgery
to shunt (drain) the excess cerebrospinal fluid (CSF) away from the brain is
extremely beneficial.  Some surgeons are now using a coiled catheter when the
shunt operation is performed on children to allow for catheter expansion as
the child grows.

It is quite common for patients with Spina Bifida to develop contractures
(shortening of the muscles) and abnormalities of posture.  This is due to the
paralysis of muscles in the legs.  A child with Spina Bifida should have the
necessary therapy (orthopedic and physical) beginning at an early age to
prevent such contractures.

The family doctor or the orthopedist may prescribe corrective shoes,
braces, crutches, or other devices.  These help the patient to make the most
effective use of their weakened muscles, and to prevent the arms and legs
from being maintained in an improper or awkward position.   Deformities from
"frozen" ankles, knees, or hips often can be prevented by range of motion
exercises.  These exercises may be started when the infant is only a few days
old, and are generally done 3 to 4 times a day initially under a doctor's
supervision.  The goal of this routine is to keep the joints movable and to
keep the leg muscles from shortening and causing contractures.  Parents and
care givers may learn these simple movements but always with their doctor's
advice.

In some cases of Spina Bifida, surgery involving the transfer of tendons
to restore proper muscle balance may be helpful.

Therapies:  Investigational

Spina Bifida, hydrocephalus, and related birth defects are constantly under
investigation.  Scientists are seeking answers to the cause, prevention, and
treatment of these disorders.  Researchers have been studying the effects of
drugs and chemicals on central nervous system development.  They are studying
how viruses, drugs, vitamins and other agents may influence the way the
nervous system develops and grows during the earliest stages of a fetal
development.

In July 1991, the Centers for Disease Control (CDC) in Atlanta, GA
reported cases of extreme life-threatening allergic reactions (anaphylactic
shock) to latex occuring in children who have undergone surgery for Spina
Bifida.  Children with Spina Bifida seem to have an extreme hypersensitivity
to latex.  Latex is commonly used in many medical products such as gloves,
endotracheal tubes, and urinary catheters.  It has been suggested that any
elective surgeries be postponed until the reason for the increased risk of
anaphalaxis in children with Spina Bifida can be determined.  If a surgical
procedure cannot be postponed, then caution should be taken to avoid or
minimize any contact with latex.

Other investigators are studying alternate methods of draining fluid from
the brain without surgery.  They also are studying biochemical changes in
parts of the brain affected by hydrocephalus, with the hope of preventing
possible brain damage.

A large project at the National Institute of Neurological Disorders and
Stroke (NINDS) is studying 55,000 mothers and their offspring.  The
conditions leading to Spina Bifida and other abnormalities of the newborn are
expected to be understood more clearly when the data are analyzed from this
large study.  The Institute is cooperating with 12 medical centers throughout
the Nation in collecting and analyzing detailed information.

Researchers in the United States, England and Hungary are investigating
the effects of folic acid and/or the use of multivitamins with folic acid as
a way of preventing the development of Neural Tube Defects in mothers who had
previous pregnancies with this defect.  The study suggests that folic acid
may play a role in preventing some Neural Tube Defects.

This disease entry is based upon medical information available through
January 1993.  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 Spina Bifida, please contact:

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

     Spina Bifida Association of America
     4590 Macarthur Blvd., NW, #250
     Washington, DC  20007-4226
     [phone]
     [phone]

     The National Easter Seal Society for Crippled Children and Adults
     70 E. Lake St.
     Chicago, Illinois  60601
     [phone] (voice)
     [phone] (TDD)

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

     Spina Bifida Association of Canada
     633 Wellington Crescent
     Winnepeg, Manitoba R3M 0A8
     Canada

     International Federation for Hydrocephalus and Spina Bifida
     c/o RBU
     Gata 3
     11138 Stockholm Sweden
     Contact:  David Bagares

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 MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 1951.

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:
Johns Hopkins University Press, 1992.  Pp. 1028-1029.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 2239-2240.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1120-1121.

PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice
Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989.  Pp.
976-977.

SPINA BIFIDA TODAY, D.G. McLone; Semin Neurol (Sept 1989; 9(3)):  Pp. 169-
175.

THE MANAGEMENT OF CHILDREN WITH SPINAL DYSRAPHISM, G.S. Liptak et al.; J
Child Neuro (Jan 1988; 3(1)):  Pp. 3-20.

Mortality Morbidity Weekly:  September 11, 1992; 41:Suppl RR 14:1-7.