$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.