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$Unique_ID{BRK04053}
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$Title{Niemann-Pick Disease}
$Subject{Niemann-Pick Disease Lipid Histiocytosis Sphingomyelin Lipidosis }
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Copyright (C) 1986, 1988, 1990 National Organization for Rare Disorders,
Inc.

93:
Niemann-Pick Disease

** IMPORTANT **
It is possible that the main title of the article (Niemann-Pick Disease)
is not the name you expected.  Please check the SYNONYM listing to find
alternate names and disorder subdivisions covered by this article.

Synonyms

     Lipid Histiocytosis
     Sphingomyelin Lipidosis

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.


Niemann-Pick Disease is a rare, familial disorder of lipid metabolism
characterized by the accumulation of sphingomyelin and cholesterol in the
reticuloendothelial cells.  There are at least five different forms of this
lipidosis (disorders of cellular lipid metabolism).  The forms differ in the
level of the enzyme sphingomyelinase; the enzyme is absent in the severe
juvenile form of the disease.

Symptoms

Niemann-Pick Disease most often occurs in infants and children.  Symptoms of
the disorder may include poor feeding habits, physical and mental
deterioration, distention of the abdomen and vomiting.  There may be cachexia
(general ill health and malnutrition).  The liver, spleen and lymph nodes may
be enlarged and the patient's skin may have a yellow-brown pigmentation.
There may be severe neurological symptoms such as loss of speech, myoclonus,
convulsions, and dementia.  Occasionally, there may be visual impairment.
Neurological disorders are absent in Type B of the disorder.

There are several variations of Niemann-Pick Disease and each will be
discussed on the following pages.

TYPE A NIEMANN-PICK DISEASE
The "infantile", or Type A Niemann-Pick Disease is the most common form
of the disorder which begins in the first few months of life.  Feeding
difficulties, gradual loss of early motor skills, and enlargement of the
abdominal organs (liver and spleen) are usually present by six months of age.
Children have an emaciated look as a result of poor feeding which is
accompanied by abdominal distention.  The skin may have a brownish-yellow
pigmentation, and approximately one-third of these patients have a cherry-red
spot in the eye.  There is a gradual decline of motor and intellectual
function resulting in a degenerative weakness and floppiness of the child.

TYPE B NIEMANN-PICK DISEASE
The Type B form of Niemann-Pick Disease may occur with abdominal organ
enlargement beginning between the ages of six months to one year.  There is
no central nervous system (brain and spinal cord) involvement in this form of
the disorder.  Organ involvement progresses slowly.  Growth rate is slow and
there may be susceptibility to lung infections.

TYPE C NIEMANN-PICK DISEASE
Type C Niemann-Pick Disease may appear in a child following two or three
years of normal development.  The disorder may begin with a slow loss of
speech as well as other central nervous system skills.  Clumsiness and a lack
of coordination progresses to seizures and continued degeneration of the
central nervous system.

TYPE D NIEMANN-PICK DISEASE
The Type D form of Niemann-Pick Disease resembles the Type C form of the
disorder, but the onset is later.  The slower progressive course results in
deterioration of mental function in early adult life.  Patients with this
form of the disease appear to all live in a coastal area of Nova Scotia and
share a common ancestry.

TYPE E NIEMANN-PICK DISEASE
A number of adults who have exhibited some of the same tissue and
chemical changes found in children with Niemann-Pick Disease, suggests an
adult form of the disorder known as Type E.  These patients have a very late
onset of the symptoms of the disease.

Causes

Niemann-Pick disease is inherited as a recessive trait.  (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

While Niemann-Pick Disease affects all races, the incidence is greater in
families of Jewish ancestry.

Therapies:  Standard

Treatment for patients with Niemann-Pick Disease is supportive and
symptomatic.

Therapies:  Investigational

Bone marrow transplantation is being tested as a treatment for Type A
Niemann-Pick disease.  Bone marrow transplantation is not recommended for
patients with relatively advanced neurological symptoms.  More research is
needed to determine the safety and effectiveness of this procedure.

Researchers at the NIH are studying several cholesterol lowering drugs
for Types C & D Niemann-Pick Disease.  Patients who are interested in
participating in this research project should contact:

     Norman W. Barton, M.D., Ph.D., or Charles Argoff, M.D.
     Clinical Care Unit
     Bldg. 10, Room 3D03/NIH
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

This disease entry is based upon medical information available through
June 1990.  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 Niemann-Pick Disease, please contact:

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

     The Niemann-Pick Type C Foundation
     22201 Riverpoint Trail
     Carrollton, VA  23314
     [phone]

     National Tay-Sachs and Allied Diseases Association, Inc.
     2001 Beacon St, Rm. 304
     Brookline, MA  02164
     [phone] or 277-3965

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

     Dr. Roscoe O. Brady
     Chief, Developmental and Metabolic Neurology
     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  [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 MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 1011.

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  Pp. 1147-9.