$Unique_ID{BRK03835}
$Pretitle{}
$Title{Hydranencephaly}
$Subject{Hydranencephaly Hydroanencephaly Hydrocephalus }
$Volume{}
$Log{}

Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.

369:
Hydranencephaly

** IMPORTANT **
It is possible the main title of the article (Hydranencephaly) is not the
name you expected.  Please check the SYNONYMS listing to find the alternate
names, disorder subdivisions, and related disorders covered by this article.

Synonyms

     Hydroanencephaly

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

     Porencephaly
     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.


Hydranencephaly is a central nervous system disorder inherited through an
unknown mode of transmission.  This extremely rare form of Porencephaly
involves almost total absence of portions of the brain.  Results of
neurologic examination in newborns may be normal or abnormal.  The head can
appear enlarged at birth in some children.  Vision impairment, lack of growth
and intellectual deficits are symptomatic of this disorder.

Symptoms

Hydranencephaly can usually be detected at birth due to an enlarged head.
Some infants may appear healthy at birth but may later fail to grow at a
normal rate.  Irritability and spasticity or rigidity of arms and legs are
symptomatic of this disorder.  Poor body temperature regulation, vision
impairment and mental retardation may also occur.

Causes

Hydranencephaly is suspected to be an inherited disorder although the mode of
transmission remains unknown.  Some researchers believe that prenatal
blockage of the carotid artery where it enters the cranium may be a cause of
this disorder.  However, the reason for the blockage is not known.

Affected Population

Hydranencephaly is present at birth.  The disorder affects males and females
in equal numbers.

Related Disorders

Porencephaly is a disorder of the central nervous system involving cerebral
cysts or cavities in cortical brain tissue.  The disorder can occur before or
after birth.  Fluid which can accumulate in the head can be drained through a
surgical shunt procedure.  The prognosis is variable.  Some patients with
this disorder may develop only minor neurological problems and have normal
intelligence, while others may be severely disabled.

Hydrocephalus is a term describing an accumulation of fluid in the brain
cavity which usually causes increased pressure inside the skull.  It is
characterized by enlargement of the head and prominence of the forehead.
This disorder may begin suddenly and can be congenital or acquired; it can be
a symptom of another disorder or a primary condition.  Treatment with a
surgical shunt procedure is generally successful in relieving pressure on the
brain by draining the fluid out of the head.  (For more information on this
disorder, choose "hydrocephalus" as your search term in the Rare Disease
Database.)

Therapies:  Standard

Treatment of Hydranencephaly is symptomatic and supportive.  When increased
intracranial pressure is involved a shunt may be surgically implanted to
drain the fluid from the brain.  Infection and blockage of the shunt should
be carefully guarded against.  Services which benefit handicapped people and
their families can be of benefit to those disabled by this disorder.

Therapies:  Investigational

Research into Hydranencephaly and other inherited central nervous system
disorders is ongoing.  Understanding the role of genetics in fetal
development is a major goal of scientists studying congenital neurological
disorders.

This disease entry is based upon medical information available through
March 1987.  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 Hydranencephaly, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5751
     (800) 352-9424

     For Information about Shunts:
     Association for Brain Tumor Research
     2910 West Montrose Ave.
     Chicago, IL  60618
     (312) 286-5571

     The Children's Brain Disease Foundation For Research
     350 Parnassus,  Suite 900
     San Francisco, CA  94117
     (415) 566-5402
     (415) 565-6259

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

HYDROANENCEPHALY:  S. Gabrovski, et. al.; Ah Vopr Reirokhir (Sept.-Oct.
1984, issue 5) Pp. 32-38.

HYDRANENCEPHALY:  PRENATAL AND NEONATAL ULTRASONOGRAPHIC APPEARANCE:  D.J.
Coady, et. al.; Am J Perinatol (July 1985, issue 2(3).  Pp.228-230.

ULTRASONOGRAPHIC PRENATAL DIAGNOSIS OF HYDRANENCEPHALY.  A CASE REPORT:
H.A. Hadi, et. al.; J Reprod Med (April 1986, issue 31(4)).