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Syndromic Diarrhea



  • Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation.[ncbi.nlm.nih.gov]
  • All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow-up.[ncbi.nlm.nih.gov]
  • To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis.[ncbi.nlm.nih.gov]
  • Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN).[ncbi.nlm.nih.gov]
  • Patients present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism.[orpha.net]
  • Serum immunoglobulin levels and specific antibody titers to poliovirus, tetanus, Diphteria toxoid and Bordetella pertussis were also measured in most reports.[ojrd.com]
Kinky Hair
  • View Article Google Scholar Menkes JH: Kinky hair disease. Pediatrics. 1972, 50: 181-183. PubMed Google Scholar Netherton EW: A unique case of trichorrhesis nodosa "bamboo hairs". Arch Dermatol. 1958, 78 (4): 483-487.[ojrd.com]
Long Arm
  • This gene is located on the Crick (minus) strand of the long arm of chromosome 5 (5q15). The gene is 91,113 bases in length and encodes a protein of 1564 amino acid residues with twenty tetratricopeptide repeats.[en.wikipedia.org]


  • The immunological workup included analyses of lymphocyte populations with T- and B-cell-specific antibodies, lymphocyte markers, blastogenesis, and immunoglobulin levels.[saudijgastro.com]
  • By contrast, lipid-containing macrophages are present in the lamina propria in several storage disorders in which digestive symptoms can occasionally be significant and in which an intestinal biopsy is obtained in the course of a workup for failure to[clinicalgate.com]
Bordetella Pertussis
  • Serum immunoglobulin levels and specific antibody titers to poliovirus, tetanus, Diphteria toxoid and Bordetella pertussis were also measured in most reports.[ojrd.com]


  • All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect.[ncbi.nlm.nih.gov]
  • Reference is easy thanks to a unique 3-part structure covering general aspects of treatment; reviews of every agent; and details of treatments of particular infections.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.de]
  • Treatment - Tricho-hepato-enteric syndrome No specific treatment or cure exists. Affected children usually need total parenteral nutrition through a central venous catheter. Further worsening of liver damage should however be avoided if possible.[checkorphan.org]


  • Prognosis Prognosis is poor with a mortality rate of up to 50%. The main complications are severe liver disease and infections.[orpha.net]
  • Prognosis - Tricho-hepato-enteric syndrome 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).[checkorphan.org]
  • The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature.[ncbi.nlm.nih.gov]
  • Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature.[ojrd.com]


  • Etiology Autosomal recessive mutations in SKIV2L (40% of cases) and TTC37 (60% of cases) lead to SD/THE. These genes encode proteins that form the Ski complex, a group of proteins responsible for the 3'-5' degradation of aberrant mRNA.[orpha.net]
  • View Article PubMed Google Scholar Guarino A, Spagnuolo MI, Russo S, Albano F, Guandalini S, Capano G, Cucchiara S, Vairano P, Liguori R, Casola A: Etiology and risk factors of severe and protracted diarrhea.[ojrd.com]
  • The clinical features of patients with THES1 are indistinguishable from those with THES2; thus, THES is considered a single entity with two molecular etiologies ( 2 ).[frontiersin.org]
  • In all patients, the diarrhea did not improve with fasting, and investigations including blood, urine, and stool tests did not reveal any specific etiology. Gastrointestinal biopsies were obtained from six patients.[saudijgastro.com]


  • To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD.[ncbi.nlm.nih.gov]
  • Summary Epidemiology Prevalence is Clinical description Severe, persistent and intractable diarrhea most often starts within the first month after birth (at latest 6 months) and is accompanied by severe malabsorption resulting in early and relentless[orpha.net]
  • To date, no epidemiological data are available. However, the prevalence can be estimated at around 1/300,000–400,000 live births in Western Europe.[ojrd.com]
  • His career has focused on spatial and temporal aspects of infectious disease epidemiology to support the more rational implementation of disease control and intervention strategies.[simonhay.well.ox.ac.uk]
Sex distribution
Age distribution


  • Prevention - Tricho-hepato-enteric syndrome Not supplied.[checkorphan.org]
  • Using laboratory-based surveillance data for prevention: an algorithm for detecting Salmonella outbreaks. Emerg Infect Dis 1997;3:395--400. Pollock D, Lowery D, O'Brien P. Emergency medicine and public health: new steps in old directions.[cdc.gov]
  • […] is a mutation of MTTP, the gene that codes for microsomal triglyceride transfer protein, which is located on chromosome 4q22 (see Table 9.2 ). 19 MTTP is responsible for the assembly of lipoprotein particles and for the proper folding of apo B, which prevents[clinicalgate.com]
  • First, they can prevent unwitting bias, as in failing to account for readily explainable data behavior.[journals.plos.org]

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