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$Unique_ID{BRK03904}
$Pretitle{}
$Title{Kinsbourne Syndrome}
$Subject{Kinsbourne Syndrome Opsoclonus-Myoclonus Myoclonic Encephalopathy
Opsoclonic Encephalopathy Myoclonus Leigh's Disease Kernicterus }
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
679:
Kinsbourne Syndrome
** IMPORTANT **
It is possible that the main title of the article (Kinsbourne Syndrome)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Opsoclonus-Myoclonus
Myoclonic Encephalopathy
Opsoclonic Encephalopathy
Information on the following diseases can be found in the Related
Disorders section of this report:
Myoclonus
Leigh's Disease
Kernicterus
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.
Kinsbourne Syndrome is a rare seizure disorder. Major symptoms may
include an unsteady gait, myoclonus, (uncontrollable jerky movements) and
rapid eye movements.
Symptoms
Kinsbourne Syndrome is characterized by repeated, rapid eye movements in both
horizontal and vertical directions (opsoclonus), an unsteady gait (ataxia),
spasms or twitchings of a muscle or group of muscles (myoclonus) and
behavioral abnormalities. Mental retardation may or may not be present.
Causes
The exact cause of Kinsbourne Syndrome is not known. In approximately forty-
five per cent of all cases the cause of it is related to malignant tumors of
embryonic nerve cells (neuroblastoma). These tumors can be located in
various areas of the body, but they are most often located in the adrenal
medulla of the brain. In some cases the disorder can occur after a viral
infection such as chicken pox or measles.
Affected Population
Kinsbourne Syndrome is a rare disorder that usually affects infants and young
children, although it is also known to affect adults. It is found in males
and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Kinsbourne
Syndrome. Comparisons may be useful for a differential diagnosis:
Myoclonus is a group of movement disorders characterized by sudden,
involuntary contractions of a skeletal muscle or group of muscles. It may be
divided into two groups, rhythmical and arrhythmic myoclonus. Myoclonus may
accompany a number of neurologic diseases, including seizure disorders, brain
injuries, hereditary brain disorders, viral infections, and neuroblastomas.
In arrhythmic myoclonus, the more common type, muscle jerks are irregular and
unpredictable. Single muscles, or the entire skeletal musculature may be
affected. (For more information on this disorder, choose "Myoclonus" as your
search term in the Rare Disease Database.)
Rhythmical, or segmental, myoclonus is characterized by synchronized
muscle jerks with a constant frequency of between ten and one hundred and
eighty jerks per minute. (For more information on this disorder, choose
"Myoclonus" as your search term in the Rare Disease Database).
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. (For more information on this disorder, choose "Leigh" as
your search term in the Rare Disease Database).
Kernicterus is a condition characterized by an excess of bilirubin in the
blood during infancy. The bilirubin is deposited in the basal ganglia of the
brain and in the brainstem nuclei. Early symptoms of Kernicterus in full
term infants may include lethargy, poor feeding and vomiting, a spasm with
head and heels bent backward and the body bowed forward (opisthotonus),
upward deviation of the eyes, convulsions and muscular rigidity. Later in
childhood the patient may show ceaseless jerky movements and slow sinuous
writhing movements (choreoathetosis), sensorineural hearing loss, and loss of
upward gaze. (For more information on this disorder, choose "Kernicterus" as
your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Kinsbourne Syndrome involves the use corticosteroid drugs,
synthetic ACTH (Synacthen) and adrenocorticotropic hormones to relieve
symptoms. When the cause of the disorder is a neuroblastoma surgery to
remove the tumor is performed along with chemotherapy or radiation therapy.
Therapies: Investigational
Research on Kinsbourne Syndrome is being pursued by the following physician.
Patients who may be interested in participating in the study should ask their
doctor to contact:
Michael R. Pranzatelli, MD
Neurology Department
Columbia University Health Sciences
630 West 168th Street
New York, NY 10032
(212) 305-1541
This disease entry is based upon medical information available through
July 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 Kinsbourne Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Kinsbourne Syndrome Support Group
8722 Beal
Dyer, IN 46311
or
Rt. 1, Box 305
Carrollton, VA 23314
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
National Myoclonus Foundation
845 Third Avenue, 4th Floor
New York, NY 10022
(212) 758-5656
References
POLYMIOCLONIA-OPSOCLONUS; KINSBOURNE SYNDROME. REPORT OF A CASE. J.B.
Vieira, et al.; Arq Neuropsiquiatr (June, 1985, issue 43 (2)). Pp. 194-197.
OPSOCLONIC ENCEPHALOPATHY IN CHILDHOOD (KINSBOURNE SYNDROME). A. Corriea,
et al.; Pediatr Med Chir (May-June, 1985, issue 7 (3)). Pp. 437-441.
MYOCLONIC ENCEPHALOPATHY (KINSBOURNE SYNDROME). W. Kaulfersch, et al.;
Padiatr Padol (1984, issue 19 (3)). Pp. 279-285.
KINSBOURNE DISEASE. STUDY OF FOUR CASES. E. Fernandez-Alvarez, et al.;
An Esp Pediatr (June-July, 1978, issue 11 (6-7)). Pp. 461-470.