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congenital idiopathic intestinal pseudo-obstruction

CIIP, pediatric intestinal pseudo-obstruction, IPO

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility.

Etiology

- primary CIIP (defects of enteric neuronal cells)

  • autosomal recessive inheritance
    • syndrome associating short small bowel, malrotation, and pyloric hypertrophy associated with morphologic defects of argyrophil neurons in the myenteric plexus (MIM.243180)
  • X-linked inheritance
    • L1CAM germline mutations at Xq28

- secondary CIIP

Associations

- hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) (15368500)

  • germline mutations of the L1CAM coding for L1 cell adhesion molecule at Xq28 (15368500)

References

- Park SH, Min H, Chi JG, Park KW, Yang HR, Seo JK. Immunohistochemical studies of pediatric intestinal pseudo-obstruction: bcl2, a valuable biomarker to detect immature enteric ganglion cells. Am J Surg Pathol. 2005 Aug;29(8):1017-24. PMID: 16006795