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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, and hair and facial abnormalities. [2] Many also have liver disease and abnormalities of the immune system. [2]
The classical triad describes the most common symptoms of IPEX: intractable diarrhea, type 1 diabetes, and eczema. Symptoms usually begin shortly after birth. [12] Other symptoms include: thyroid disease, kidney dysfunction, blood disorders, frequent infections, autoimmune hemolytic anemia, and food allergies, among others. [10]
One patient from the UK was documented as achieving nutritional independence at age 3. [10] On 26 June 2009, a six-year-old girl with microvillus inclusion disease became the third person in the UK to die of swine flu. This was attributed to her weakened immune system. [11]
Lactose intolerance should be excluded in infants with intractable diarrhea. Like autoimmune enteropathy, lactose intolerance can affect the whole GI tract with primary findings in the small bowel. Biopsy reveals prominent mononuclear cell infiltrate of the lamina propria, reveal flattened villi, and edema.
The first cases appears to have been reported in 1978 by Davidson et al. [5] 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.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
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The other classification of chronic diarrhea, congenital diarrheas and enteropathies (CODEs), are rare diagnoses of exclusion. With recent advances in genome sequencing, the addition of targeted genetic testing to diagnostic algorithms has been proposed to allow faster diagnoses and earlier treatment of CODEs. [ 13 ]