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$Unique_ID{BRK03924}
$Pretitle{}
$Title{Leigh's Disease}
$Subject{Leigh's Disease Subacute Necrotizing Encephalopathy SANE SNE
Infantile Subacute Necrotizing Encephalopathy Adult Subacute Necrotizing
Encephalopathy Encephalomyelopathy Pyruvate Decarboxylase Deficiency Leigh
Necrotizing Encephalopathy PC Deficiency Ataxia with Lactic Acidosis II
Wernicke Encephalopathy Kuf Disease Neuronal Ceroid Lipofuscinosis Adult form
Batten Disease Neuronal Ceroid Lipofuscinosis Juvenile form Tay-Sachs Disease
Sandhoff Disease }
$Volume{}
$Log{}

Copyright (C) 1987, 1988, 1990, 1992 National Organization for Rare
Disorders, Inc.

392:
Leigh's Disease

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

Synonyms

     Subacute Necrotizing Encephalopathy
     SANE
     SNE
     Infantile Subacute Necrotizing Encephalopathy
     Adult Subacute Necrotizing Encephalopathy
     Encephalomyelopathy
     Pyruvate Decarboxylase Deficiency
     Leigh Necrotizing Encephalopathy
     PC Deficiency
     Ataxia with Lactic Acidosis II

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

     Wernicke Encephalopathy
     Kuf Disease (Neuronal Ceroid Lipofuscinosis, Adult form)
     Batten Disease (Neuronal Ceroid Lipofuscinosis, Juvenile form)
     Tay-Sachs Disease
     Sandhoff Disease

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.


Leigh's Disease is a genetic metabolic disorder characterized by lesions
of the brain, spinal cord, optic nerve and in some cases, an enlarged heart.
The disorder is usually first diagnosed during infancy but may begin later.
Symptoms during infancy may include low body weight, slow growth, tremors,
skin changes and interrupted breathing patterns.  Progressive neurological
disturbances, mental retardation, slurred speech and loss of motor
coordination (ataxia) may occur in cases beginning during or after infancy.
Abnormalities of eye movement and other vision problems may develop in cases
with later onset.

Symptoms

Symptoms of some forms of Leigh's Disease resemble those of a thiamine
deficiency disorder known as Wernicke Encephalopathy.  Symptoms of all forms
of the disorder may vary from case to case.  Typically, lesions may be found
in areas of the brain, spinal cord and optic nerve.  These lesions may cause
progressive loss of neurological function, mental retardation, tremors and/or
loss of motor coordination (ataxia).  The heart may be enlarged in some
cases.  Vision problems may include unusual eye movements, slowed focusing
and/or loss of clear vision (optic atrophy).

In some infants, breathing disturbances may necessitate continuous
monitoring.

Causes

Leigh's Disease is thought to be inherited as an autosomal recessive trait.
Lactic acid, pyruvate, and alanine may be found in abnormal amounts in the
blood.  Some cases have been associated with a defect in the enzyme pyruvate
carboxylase.

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 recessive disorders, the condition does not
appear unless a person inherits the same defective gene from each parent.  If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.

Affected Population

In 80% of known cases Leigh's Disease affects infants.  The remaining 20%
first show symptoms as late as adulthood.  Both sexes are affected by Leigh's
Disease.  Leigh's Disease is very rare.

Related Disorders

The following disorders have similar symptoms to Leigh's Disease.
Comparisons may be useful for a differential diagnosis:

Wernicke Encephalopathy is a degenerative brain disorder characterized by
a deficiency of thiamine.  It is marked by loss of coordination (ataxia) and
apathy, confusion, disorientation or delirium.  Various vision dysfunctions
may also develop.  This disorder often occurs in conjunction with Korsakoff
Syndrome which involves a Vitamin B1 (thiamine) deficiency usually caused by
alcoholism.  Wernicke Encephalopathy can be severely disabling and life
threatening if it is not recognized and treated early.  (For more information
on this disorder, choose "Korsakoff" as your search term in the Rare Disease
Database.)

Batten Disease is a hereditary lipid storage disorder transmitted as a
recessive trait.  It is characterized by rapidly progressive vision failure
(optic atrophy), deterioration of intellect, seizures, loss of muscular
coordination (ataxia) and a backward lateral curvature of the spinal column
(kyphoscoliosis).  Occurring mostly in white families of Northern European
Scandinavian ancestry, Batten Disease usually begins between five and seven
years of age.  (For more information on this disorder, choose "Batten" as
your search term in the Rare Disease Database).

Kuf Disease is characterized by neurologic symptoms which may mimic
mental illness, and dermatologic abnormalities resembling Ichthyosis.
Symptoms of Kuf Disease may be linked to excess accumulations of pigments
(lipofuscins) dissolved in fatty tissues that are found throughout the
central nervous system.  Kuf Disease, Batten Disease and Bielchowsky Disease
are different forms of the same disorder and are differentiated by the age of
onset.  Major forms of this disorder may be difficult to distinguish
diagnostically from other progressive degenerative diseases of the central
nervous system.  (For more information on this disorder, choose "Kuf" and
"Ichthyosis" as your search terms in the Rare Disease Database).

Tay-Sachs Disease is a genetic disorder in children that causes the
progressive destruction of the central nervous system.  It is generally found
among children of Eastern European Jewish heritage and becomes clinically
apparent at about six months of age.  Infants with Tay-Sachs Disease appear
normal at birth and seem to develop normally until the age of about six
months.  The first signs of the disease vary and become evident at different
ages.  These signs may include slowed development, loss of peripheral vision,
abnormal startle response, progression of feeding difficulties, weakness,
restlessness and cherry spots on the retina.  At the age of one year,
recurrent convulsions, loss of previously learned skills and muscle
coordination, blindness, mental retardation, flaccidity and/or paralysis may
occur.  This disorder is inherited as a recessive trait.  (For more
information on this disorder, choose "Tay Sach" as your search term in the
Rare Disease Database).

Sandhoff Disease is a variant of Tay-Sachs Disease.  It is clinically
indistinguishable from Tay-Sachs and is found in people of all ethnic
backgrounds.  (For more information on this disorder, choose "Sandhoff" as
your search term in the Rare Disease Database).

Therapies:  Standard

Treatment for Leigh's Disease with pyruvate carboxylase deficiency includes
high doses of thiamine and lipoic acid which may improve some symptoms.
Genetic counseling is recommended for families of patients with this
disorder.  Services which benefit vision-impaired people may be helpful.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research is ongoing into possible causes of biochemical and genetic factors
which may contribute to the development of Leigh's Disease.

Clinical trials are underway to study stable isotope technique in
glucogenesis and Krebs cycle and patient response to treatment.  Interested
persons may wish to contact:

     Dr. W.N. Paul Lee
     Harbor University of CA, Los Angeles Medical Center
     Dept. of Pediatrics, Box-16
     1000 W. Carson St.
     Torrance, CA  90509
     [phone]

This disease entry is based upon medical information available through
January 1992.  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 Leigh disease, please contact:

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

     National Leigh's Disease Foundation, Inc.
     613 Childs St.
     Corinth, MS  38834-4810
     [phone]

     Lactic Acidosis Support Group
     P.O. Box 480282
     Denver, CO  80248
     [phone]

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

     Children's Brain Diseases Foundation for Research
     350 Parnassus  Suite 900
     San Francisco, CA  94117
     [phone]
     [phone]

     International Tremor Foundation
     360 W. Superior St.
     Chicago, IL  60610
     [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]

For information relating to vision problems, contact:

     NIH/National Eye Institute
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     American Council for the Blind, Inc. (ACB)
     1211 Connecticut Avenue NW, Suite 506
     Washington, D.C.  20036
     [phone]
     [phone]

     American Foundation for the Blind (AFB)
     11010 Vermont Ave., NW, Suite 1100
     New York, NY  10011
     [phone]

     American Printing House for the Blind
     P.O. Box 6085
     Louisville, KY  40206-0085
     [phone]

     National Association for Parents of the Visually Impaired (NAPVI)
     3329 Northaven Road
     Dallas, TX  75229
     [phone]

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  [phone]

References

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 1225.