$Unique_ID{BRK03880} $Pretitle{} $Title{Intestinal Pseudoobstruction} $Subject{Intestinal Pseudoobstruction Pseudointestinal Obstruction Syndrome Hypomotility Disorder CIIP Congenital Short Bowel Syndrome Pseudoobstructive Syndrome Chronic Idiopathic Intestinal Pseudoobstruction Irritable Bowel Syndrome Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Paralytic Ileus Acute Colonic Pseudoobstruction (Ogilvie's Syndrome) Intestinal Obstruction Scleroderma Myxedema Amyloidosis Muscular Dystrophy Hypokalemia Renal Failure Diabetes Mellitus Anticholinergic Toxicity Opiate Toxicity } $Volume{} $Log{} Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 452: Intestinal Pseudoobstruction ** IMPORTANT ** It is possible the main title of the article (Intestinal Pseudoobstruction) 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 Pseudointestinal Obstruction Syndrome Hypomotility Disorder CIIP Congenital Short Bowel Syndrome Pseudoobstructive Syndrome Chronic Idiopathic Intestinal Pseudoobstruction Information on the following diseases can be found in the Related Disorders section of this report: Irritable Bowel Syndrome Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Paralytic Ileus Acute Colonic Pseudoobstruction (Ogilvie's Syndrome) Intestinal Obstruction Scleroderma Myxedema Amyloidosis Muscular Dystrophy Hypokalemia Renal Failure Diabetes Mellitus Anticholinergic Toxicity Opiate Toxicity 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. Intestinal Pseudoobstruction is a digestive disorder which may be present at birth. The intestinal walls are unable to contract normally in wave-like (peristaltic) motions (hypomotility). This condition resembles a true obstruction, but no such blockage exists. Abdominal pain, vomiting, diarrhea, constipation, malabsorption of nutrients leading to weight loss and/or failure to thrive, enlargement of various parts of the small intestine or bowel also occur. Symptoms Intestinal Pseudoobstruction is characterized by a lack of wave-like motions (peristalsis) of the intestinal walls which normally moves food through the digestive tract. Although symptoms appear to be caused by an intestinal obstruction, no such blockage exists. Enlargement of parts of the gastrointestinal tract may be accompanied by pain, and accumulations of air and/or fluid. Additionally, malabsorption of nutrients can lead to diarrhea or constipation, and eventually weight loss. Babies with this disorder may fail to thrive due to lack of nutrients. Intestinal Pseudoobstruction is characterized primarily by "failure to thrive" during infancy. The intestine may be abnormally formed and the involuntary wave-like contractions which propel food through the digestive system (peristalsis) may be lacking. Intermittent pain, a swollen abdomen (abdominal distension), and forceful vomiting often occur as the esophagus and small intestine dilate. In some cases, central nervous system deterioration may occur, possibly resulting in impaired walking coordination, and an abnormal dilation of the pupils in the eyes. Additionally, speech disturbances, absent deep tendon reflexes, poor muscle sensation, and lack of sweating during warm temperatures may also develop. Causes Intestinal Pseudoobstruction may occur sporadically with no known cause or as a complication of various other disorders. It may also be inherited as an autosomal dominant 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 dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Disorders which may precede development of this disorder include Scleroderma, Myxedema, Amyloidosis, Muscular Dystrophy, Hypokalemia, Chronic Renal Failure, or Diabetes Mellitus. Drug toxicity as a result of anticholinergic drugs and opiate narcotics may also cause Intestinal Pseudoobstruction. Symptoms are thought to be caused by abnormalities of the nerves in the intestinal wall which deter normal wave-like contractions of the intestine. Affected Population Intestinal Pseudoobstruction is a rare disorder occurring worldwide which affects males and females in equal numbers. Related Disorders Symptoms of the following disorder may be similar to those of Chronic Idiopathic Intestinal Pseudoobstruction (CIIP). Comparisons may be useful for a differential diagnosis: Irritable Bowel Syndrome, also known as spastic colon or mucous colitis, is a digestive disorder which involves both the small intestine and the large bowel. It is characterized by varying degrees of abdominal pain, constipation, diarrhea, and an apparent reaction to stress in susceptible individuals. However, this disorder usually appears in adults, and rarely in infants. (For more information on this disorder, choose "Irritable Bowel" as your search term in the Rare Disease Database). Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is characterized by a massively enlarged bladder (leading to displacement of other internal organs), a smaller than normal colon, and lack of the normal wave-like motions (peristalsis) of the intestines which aid absorption and digestion of nutrients. Bowel and bladder dysfunction can be treated with catheterization and anticholinergic drugs. Although there is no cure, management of the disorder can avoid complications and lead to temporary asymptomatic periods. In severe cases, surgical removal of the colon and/or ileum, catheterization, and parenteral or enteral nutrition may be recommended. Parenteral feeding is being fed through any pathway that does not involve the gastrointestinal tract or lungs, i.e., feeding through a tube directly into veins (intravenous), beneath the skin (subcutaneous), into a muscle (intramuscular), or into the bone marrow of the spinal cord (intramedullary). Enteral feeding involves being fed through a tube directly into the gastrointestinal tract. Paralytic Ileus is caused by paralysis of the bowel wall. The paralysis is usually a result of localized or generalized inflammation of the membranous sac surrounding the abdominal cavity known as the peritoneum (peritonitis), or shock. Symptoms are similar to those of Intestinal Pseudoobstruction. Acute Colonic Pseudoobstruction (Ogilvie's Syndrome) is characterized by lack of wave-like motions (peristalsis) of the colon section of the large intestine rather than the areas of the intestine affected by other forms of pseudoobstruction. Symptoms are similar to those of Intestinal Pseudoobstruction although treatment is different. Decompression of the enlarged colon with the use of a colonoscopic overtube is generally an effective treatment. Intestinal Obstruction is a general term denoting any mechanical blockage of the passage of food through the intestinal tract which is detectable upon physical examination. Symptoms of this condition include lack of absorption of nutrients, diarrhea or constipation, and eventually, failure to thrive and/or weight loss. The obstruction can be a tumor, abscess or other mass that blocks the intestines. The following disorders may precede the development of Chronic Idiopathic Intestinal Pseudoobstruction. They can be useful in identifying an underlying cause of some forms of this disorder: Scleroderma is characterized by thickening and hardening of the skin and fibrous tissue, which may eventually affect the internal organs. This disorder is also known as Progressive Systemic Sclerosis. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Myxedema is a combination of hypothyroidism manifested by a relatively hard swelling (edema) of an inner layer of skin, dryness and loss of hair. Additionally, body temperature may be below normal. Hoarseness, muscle weakness, and slow return of a muscle to it's normal position after a tendon jerk may occur. This disorder can be caused by removal of the thyroid or loss of functioning of the thyroid gland. Amyloidosis results from an excess accumulation of amyloid, a glycoprotein, in almost any organ system. Systemic amyloidosis occurs in three forms distinguished by certain biochemical and pathological characteristics. Primary Amyloidosis arises either independently of other disease, or in association with multiple myeloma. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database). Batten Turner Muscular Dystrophy is a benign congenital form of muscular dystrophy characterized by frequent stumbling and falling during early childhood. Unlike the Duchenne variety of muscular dystrophy which typically is present in young boys, Batten Turner Syndrome affects both sexes. (For more information on this disorder, choose "Muscular Dystrophy" as your search term in the Rare Disease Database). Hypokalemia is characterized by an abnormally small concentration of potassium in the circulating blood. This condition can occur in conjunction with Familial Periodic Paralysis and in potassium depletion due to excessive loss from the gastrointestinal tract or kidneys. Muscle weakness may result from this deficiency. (For more information on this disorder, choose "Hypokalemia" as your search term in the Rare Disease Database). Renal (kidney) Failure occurs as a result of a number of conditions or disorders wherein the kidney function deteriorates to an extreme degree. This has been known to cause some cases of Intestinal Pseudoobstruction. Diabetes Mellitus (Insulin-dependent Diabetes) is a disorder in which the body does not produce enough insulin and is, therefore, unable to convert nutrients into the energy necessary for daily activity. The disorder affects females and males approximately equally. Although the causes of Insulin- dependent Diabetes are not known, genetic factors seem to play a role. Some cases of Intestinal Pseudoobstruction can be a complication of Diabetes Mellitus. (For more information on this disorder, choose "Diabetes" as your search term in the Rare Disease Database). Anticholinergic Toxicity is an adverse reaction to a drug which would normally be administered to deter action of the cholinergic nerve fibers. Intestinal Pseudoobstruction occurs when these nerve fibers in the intestinal walls somehow become inactive and do not facilitate the wavelike motion (peristalsis) which normally moves nutrients through the intestinal tract. Obviously, if anticholinergic drugs are administered to an Intestinal Pseudoobstruction patient, further problems would result. Opiate Toxicity is an adverse reaction to pain relieving drugs derived from the opium poppy such as morphine and similar compounds. Intestinal Pseudoobstruction is among the possible adverse side effects of these drugs. Therapies: Standard Treatment for forms of Intestinal Pseudoobstruction which are secondary to kidney (renal) failure and drug toxicity involve treatment of the underlying disorder. Broad spectrum antibiotics can be useful for treating malabsorption or diarrhea caused by bacterial overgrowth which may occur when ingested food remains stationary in the intestines. Metroclopramide (Reglan) may increase intestinal motility in some cases. However, overall effectiveness is limited by side effects. Oral administration of liquid, low-residue, complete nutrition preparations may provide and maintain adequate nutrition. In severe cases, patients may require long-term parenteral or enteral nutrition. Parenteral feeding is being fed through any pathway that does not involve the gastrointestinal tract or lungs, i.e., feeding through a tube directly into the veins (intravenous), beneath the skin (subcutaneous), into a muscle (intramuscular), or into the bone marrow of the spinal cord (intramedullary). Enteral feeding involves being fed through a tube directly into the gastrointestinal tract. Additionally, surgical removal of enlarged loops of intestine may improve oral nutrition and relieve pain, but the effectiveness of this measure tends to vary greatly between patients. Genetic counseling may be of benefit for some patients with the hereditary form of this disorder and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Testing of the Orphan Drug cisapride, which induces motility in the intestines (peristalsis) in Intestinal Pseudoobstruction is being conducted. Further testing is required since results have not been fully documented for all but the most severe cases of Intestinal Pseudoobstruction. For more information, physicians can contact: Pediatric Gastrointestinal Motility Center Dr. Paul Hyman, Chief Harbor UCLA Medical Center 1124 W. Carson St., Trailer C-1 Torrance, CA 90502 or Janssen Pharmaceutica, Inc. 40 Kingsbridge Rd. Piscataway, NJ 08854 This disease entry is based upon medical information available through April 1989. 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 Intestinal Pseudoobstruction, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 North American Pediatric Pseudoobstruction Society 16 Mammmola Way Medford, MA 02155 (617) 395-4255 American Society of Adults with Pseudoobstruction 19 Carrol Rd. Woburn, MA 01801 (617) 938-7571 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Frances Harley, M.D. Department of Pediatrics, 4-120A, C.S.B. University of Alberta, Edmonton, Alberta TG6 2G3 Canada (003) 432-6631 For information on Parenteral or Enteral Nutrition, contact: PEN Parent Education Network 203 Brookfield Dr. Straford, WI 54484 (715)687-4551 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 MENDELIAN INHERITANCE IN MAN, 7th ed.; Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 154-155. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1065-1066. PROBLEMS OF TRACE ELEMENTS AND VITAMINS DURING LONG-TERM PARENTERAL NUTRITION: A CASE REPORT OF IDIOPATHIC INTESTINAL PSEUDO-OBSTRUCTION. H. Kadowski, et al.; JPEN (May-June 1987, issue 11(3). Pp. 322-325. CHRONIC IDIOPATHIC INTESTINAL PSEUDO-OBSTRUCTION CAUSED BY VISCERAL NEUROPATHY LOCALISED IN THE LEFT COLON: REPORT OF TWO CASES. H. Suzuki, et al.; Jpn J. Surg (July 1987, issue 17 (4). Pp. 302-306. FAMILIAL INTESTINAL PSEUDOOBSTRUCTION DOMINATED BY A PROGRESSIVE NEUROLOGIC DISEASE AT A YOUNG AGE: J. Faber, et al.; Gastroenterology (March 1987, issue 92(3)). Pp. 786-790. FAMILIAL VISCERAL NEUROPATHY WITH AUTOSOMAL DOMINANT TRANSMISSION: E.A. Mayer, et al.; Gastroenterology (December, 1986, issue 91(6)). Pp. 1528- 1535. CHRONIC IDIOPATHIC INTESTINAL PSEUDO-OBSTRUCTION: CLINICAL AND INTESTINAL MANOMETRIC FINDINGS: V. Stanghellini, et al.; Gut (January 1987, issue 28(1)). Pp. 5-12.