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$Unique_ID{BRK03928}
$Pretitle{}
$Title{Leprechaunism}
$Subject{Leprechaunism Donohue Syndrome Pseudoleprechaunism William's Syndrome
}
$Volume{}
$Log{}
Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
387:
Leprechaunism
** IMPORTANT **
It is possible the main title of the article (Leprechaunism) 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
Donohue Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report.
Pseudoleprechaunism
William's Syndrome
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.
Leprechaunism is a progressive hereditary endocrine disorder
characterized by overdevelopment (hyperplasia) of the pancreas, insulin
resistance, and excessive amounts of estrogens. It may be associated with
abnormal carbohydrate metabolism, and a large quantity of iron in the liver
(hepatic siderosis). Physical and sometimes mental retardation occurs with
facial abnormalities and abnormal external genitalia.
Symptoms
Leprechaunism is characterized by growth retardation starting before birth
with shortness of arms and legs. However, hands and feet tend to be large.
Fatty tissue under the skin (subcutaneous) tends to disappear with advancing
age. Children with this disorder have an elfin face characterized by sunken
cheeks, a pointed chin, a flat broad nose, eyes that are set wide apart and
low set ears. Symptoms also include excessive hairiness (hirsutism), and
dark pigmentation in skin creases. In girls ovaries may be enlarged and
exhibit cysts. Nipples and clitoris are also enlarged. In boys, the penis
may be larger than normal. Additionally, mental development may sometimes be
retarded.
Patients with Leprechaunism have low blood sugar levels (hypoglycemia)
after fasting, and an elevated insulin level can be detected through blood
tests (hyperinsulinemia). They are also more susceptible to infections.
Causes
Leprechaunism is a genetic disorder inherited as an autosomal recessive
trait. Parents of children with this disorder are often related
(consanguineous). (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.)
The exact cause of Leprechaunism is not known. The genetic defect may
cause an abnormality in the pancreas affecting production of insulin or may
affect the way the insulin is bound to the insulin receptors. However, other
body systems seem to be involved.
Affected Population
Leprechaunism affects less than 100 people in the United States, mostly
female. Onset occurs before birth. Only 4 out of 15 reported cases were
males. Usually the parents are closely related (second and first cousins
once removed).
Related Disorders
Patterson Pseudoleprechaunism is a very rare disorder that has symptoms
resembling Leprechaunism. Children with this syndrome may have a normal
birth weight, bronze colored skin (hyperpigmentism), loose skin on the hands
and feet, unusual facial characteristics, enlargement of the adrenal glands
and the adrenal cortex (hyperadrenocorticism), and diabetes mellitus.
Williams Syndrome is an autosomal dominant inherited disorder which is
characterized by heart abnormalities, an elfin face, mild mental and growth
deficiencies, teeth set wide apart, and increased calcium levels in the blood
(hypercalcemia) during infancy. (For more information on this disorder,
choose "Williams Syndrome" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Leprechaunism is symptomatic and supportive. Genetic counseling
may benefit families of affected children. Infections should be guarded
against and aggressively treated.
Therapies: Investigational
This disease entry is based upon medical information available through June
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 Leprechaunism, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For genetic information 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
THE PATTERSON SYNDROME, LEPRECHAUNISM, AND PSEUDOLEPRECHAUNISM: T.J. David,
et al.; Journal of Medical Genetics (August 1981: issue 18,4). Pp. 294-298.
INSULIN RESISTANCE IN AN INFANT WITH LEPRECHAUNISM: H. Kashiwa, et al.;
Acta Paediatrica Scandinavica (September 1984: issue 73,5). Pp. 701-704.