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EE is rarely symptomatic and is considered a subclinical condition. However, adults may have mild symptoms or malabsorption such as altered stool consistency, increased stool frequency and weight loss.
It is characterized by chronic, intractable diarrhea in new-born infants, starting in the first few days of life.
This results in metabolic acidosis and severe dehydration. Pregnancy and birth are usually normal.
Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.
Environmental enteropathy is believed to result in chronic malnutrition and subsequent growth stunting (low height-for-age measurement) as well as other child development deficits.
Functional gastrointestinal disorders are very common. Globally, irritable bowel syndrome and functional dyspepsia alone may affect 16–26% of the population.
Polyps are most frequent in the stomach and large intestine, are also found in the small intestine, and are least frequent in the esophagus. A biopsy will reveal them to be hamartomas; the possibility that they progress to cancer is generally considered to be low, although it has been reported multiple times in the past. Chronic diarrhea and protein-losing enteropathy are often observed. Possible collateral features include variable anomalies of ectodermal tissues, such as alopecia, atrophy of the nails, or skin pigmentation
Congenital tufting enteropathy is an inherited disorder of the small intestine that presents with intractable diarrhea in young children.
Terms such as "functional colonic disease" (or "functional bowel disorder") refer in medicine to a group of bowel disorders which are characterised by chronic abdominal complaints without a structural or biochemical cause that could explain symptoms. Other "functional" disorders relate to other aspects of the process of digestion.
The consensus review process of meetings and publications organised by the Rome Foundation, known as the Rome process, has helped to define the functional gastrointestinal disorders. Successively, the Rome I, Rome II, Rome III and Rome IV proposed consensual classification system and terminology, as recommended by the Rome Coordinating Committee. These now include classifications appropriate for adults, children and neonates / toddlers.
The current Rome IV classification, published in 2016, is as follows:
A. Esophageal Disorders
- A1. Functional chest pain
- A2. Functional heartburn
- A3. Reflux hypersensitivity
- A4. Globus
- A5. Functional dysphagia
B. Gastroduodenal Disorders
- B1. Functional dyspepsia
- B1a. Postprandial distress syndrome (PDS)
- B1b. Epigastric pain syndrome (EPS)
- B2. Belching disorders
- B2a. Excessive supragastric belching
- B2b. Excessive gastric belching
- B3. Nausea and vomiting disorders
- B3a. Chronic nausea vomiting syndrome (CNVS}
- B3b. Cyclic vomiting syndrome (CVS)
- B3c. Cannabinoid hyperemesis syndrome (CHS)
- B4. Rumination syndrome
C. Bowel Disorders
- C1. Irritable bowel syndrome (IBS)
- IBS with predominant constipation (IBS-C)
- IBS with predominant diarrhea (IBS-D)
- IBS with mixed bowel habits (IBS-M)
- IBS unclassified (IBS-U)
- C2. Functional constipation
- C3. Functional diarrhea
- C4. Functional abdominal bloating/distension
- C5. Unspecified functional bowel disorder
- C6. Opioid-induced constipation
D. Centrally Mediated Disorders of Gastrointestinal Pain
- D1. Centrally mediated abdominal pain syndrome (CAPS)
- D2. Narcotic bowel syndrome (NBS)/ Opioid-induced GI hyperalgesia
E. Gallbladder and Sphincter of Oddi disorders
- E1. Biliary pain
- E1a. Functional gallbladder disorder
- E1b. Functional biliary sphincter of Oddi disorder
- E2. Functional pancreatic sphincter of Oddi disorder
F. Anorectal Disorders
- F1. Fecal incontinence
- F2. Functional anorectal pain
- F2a. Levator ani syndrome
- F2b. Unspecified functional anorectal pain
- F2c. Proctalgia fugax
- F3. Functional defecation disorders
- F3a. Inadequate defecatory propulsion
- F3b. Dyssynergic defecation
G. Childhood Functional GI Disorders: Neonate/Toddler
- G1. Infant regurgitation
- G2. Rumination syndrome
- G3. Cyclic vomiting syndrome (CVS)
- G4. Infant colic
- G5. Functional diarrhea
- G6. Infant dyschezia
- G7. Functional constipation
H. Childhood Functional GI Disorders: Child/Adolescent
- H1. Functional nausea and vomiting disorders
- H1a. Cyclic vomiting syndrome (CVS)
- H1b. Functional nausea and functional vomiting
- H1b1. Functional nausea
- H1b2. Functional vomiting
- H1c. Rumination syndrome
- H1d. Aerophagia
- H2. Functional abdominal pain disorders
- H2a. Functional dyspepsia
- H2a1. Postprandial distress syndrome
- H2a2. Epigastric pain syndrome
- H2b. Irritable bowel syndrome (IBS)
- H2c. Abdominal migraine
- H2d. Functional abdominal pain ‒ NOS
- H3. Functional defecation disorders
- H3a. Functional constipation
- H3b. Nonretentive fecal incontinence
This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly.
Other symptoms are:
- Bronchiectasis
- Hepatosplenomegaly
- Pyoderma
- Emphysema
- Diarrhea
Sclerosing mesenteritis may present with no or nearly no signs or symptoms, but many people have chronic and severe pain in the abdomen as the most common chief complaint. Other people have chronic problems with bowel movements, resulting in diarrhea, bloating, gas, and cramping which can range from severe to mild.
The disorder is identified by histopathology showing fat necrosis, fibrosis and chronic inflammation of the small intestine. Examination of the mesentery may indicate a solitary mass, but diffuse mesentery thickening is common.
It often mimics other abdominal diseases such as pancreatic or disseminated cancer. CT scanning is important for making the initial diagnosis.
The first cases appears to have been reported in 1978 by Davidson et al. These authors reported a five cases of intractable diarrhoea four of whom died. Post mortum showed a thin and dilated intestine with flat small bowel mucosa. A number of jejunal biopsies had been taken during life and these showed partial villous atrophy with by crypt hyperplasia and an increased number of mitotic figures in the crypts. Normal numbers and types of mononuclear cells were present in the lamina propria. Most notably focal epithelial tufts were found on the surface epithelium. These tufts were composed of closely packed enterocytes with apical rounding of the plasma membrane, resulting in a teardrop configuration of the cells. Inclusion bodies or secretory granules were not visualised on transmission electron microscopy within the cytoplasm of the villous enterocytes.
Reifen "et al" reported 2 additional cases in 1994 and coined the name congenital tufting enteropathy.
Tricho-hepato-enteric syndrome is one particular form of intractable diarrhea of infancy, presenting typically in the first month of life. These babies were usually born small for their age and continue to experience failure to thrive, usually with a final short stature. Typical facial features include prominent forehead and cheeks, a broad nasal root and widely spaced eyes (hypertelorism). Their hairs are woolly, easily removed and poorly pigmented. Liver disease is mainly present as cirrhosis or fibrosis, and staining might reveal high iron content of the liver cells (consistent with hemochromatosis). Most evaluated patients had some degree of decrease in intelligence.
Ten (of 75) young patients had neurologic findings such as febrile seizures, single generalized seizures, mild ataxia, and muscular hypotonia with retarded motor development, but magnetic resonance imaging detected unilateral and bilateral T2-hyperintensive white-matter lesions in 15 patients (20%)
Chronic diarrhea of infancy, also called toddler's diarrhea, is a common condition typically affecting children between ages 6–30 months, usually resolving by age 4. Symptoms include multiple loose bowel movements per day, sometimes with undigested food visible; normal growth with no evidence of malnutrition; and no evidence blood in the stool or infection. The condition may be related to irritable bowel syndrome.
Before a diagnosis of toddler's diarrhea is made, the following conditions should be ruled out:
- Celiac sprue (wheat gluten intolerance)
- Cystic fibrosis
- Sugar malabsorption
- Food allergy
According to recent studies, calcifications of channels seen in dementia can also occur in specific brain areas such as the visual complex in the occipital lobe. Such calcium channel blockages can cause visual problems or partial field hallucinations (Paroxysmal visual manifestations). Other papers show a link between migraine, visual aura and cerebral calcifications. Disturbances may be followed by
convulsions and associated with gastrointestinal phenomena.
Cronkhite–Canada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract. It is sporadic (i.e. it does not seem to be a hereditary disease), and it is currently considered acquired and idiopathic (i.e. cause remains unknown).
About two-thirds of patients are of Japanese descent and the male to female ratio is 2:1. It was characterized in 1955.
The major clinical features are prolonged watery diarrhea (fasting stool volume > 750 to 1000 mL/day) and symptoms of hypokalemia and dehydration.
Half of the patients have relatively constant diarrhea while the rest have alternating periods of severe and moderate diarrhea.
One third have diarrhea < 1yr before diagnosis, but in 25%, diarrhea is present for 5 yr or more before diagnosis.
Lethargy, muscle weakness, nausea, vomiting and crampy abdominal pain are frequent symptoms.
Hypokalemia and impaired glucose tolerance occur in < 50% of patients. Achlorhydria is also a feature.
During attacks of diarrhea, flushing similar to the carcinoid syndrome occur rarely.
Microscopic colitis causes chronic watery diarrhea with greater than 10 bowel movements per day. Some patients report nocturnal diarrhea, abdominal pain, urgency, fecal incontinence, fatigue, dehydration and weight loss. Patients report a significantly diminished quality of life.
Loss of Pancreatic enzymes leads to maldigestions and malabsorption which may lead to:
- steatorrhea
- weight loss
- fatigue
- flatulence and abdominal distention (bacterial fermentation of unabsorbed food)
- edema (hypoalbuminemia)
- anemia (Vitamin B12, iron, folate deficiency)
- bleeding disorders (Vitamin K malabsorption)
- Metabolic bone disease (Vitamin D deficiency)
- neurologic manifestation
- hypocalcemia
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities. Many also have liver disease and abnormalities of the immune system. The associated malabsorption leads to malnutrition and failure to thrive.
It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains unknown. Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition).
Idiopathic sclerosing mesenteritis (ISM) or mesenteric panniculitus is a rare disease of the small intestine, characterized by chronic inflammation and eventual fibrosis of the mesentery. It has also been called mesenteric lipodystrophy, or retractile mesenteritis.
On colonoscopy, the mucosa of the colon typically looks normal, but biopsies of affected tissue usually show deposition of collagen in the lamina propria, which is the area of connective tissue between colonic glands. Radiological tests, such as a barium enema are also typically normal.
A VIPoma (also known as Verner–Morrison syndrome, after the physicians who first described it) is a rare (1 per 10,000,000 per year) endocrine tumor, usually (about 90%) originating from non-β islet cell of the pancreas, that produce vasoactive intestinal peptide (VIP). It may be associated with multiple endocrine neoplasia type 1.
The massive amounts of VIP in turn cause profound and chronic watery diarrhea and resultant dehydration, hypokalemia, achlorhydria (hence "WDHA-syndrome", or "pancreatic cholera syndrome"), acidosis, vasodilation (flushing and hypotension), hypercalcemia and hyperglycemia.
Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the intestines to push food through. It is characterized by the signs and symptoms of intestinal obstruction without any lesion in the intestinal lumen. Clinical features can include abdominal pain, nausea, severe distension, vomiting, dysphagia, diarrhea and constipation, depending upon the part of the gastrointestinal tract involved. The condition can begin at any age and it can be a primary condition (idiopathic or inherited) or caused by another disease (secondary).
It can be chronic or acute.