European Journal of Pediatrics

, Volume 166, Issue 3, pp 265–268

Tufting enteropathy and skeletal dysplasia: is there a link?

  • Wael El-Matary
  • A. Mark Dalzell
  • George Kokai
  • Joyce E. Davidson
Short Report



Tufting enteropathy (intestinal epithelial dysplasia), a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. After extensive investigations including repeated gastrointestinal endoscopies and biopsies, the diagnosis of tufting enteropathy was made. During the third year of her life, the patient’s height was static. A full skeletal survey was performed and demonstrated features of generalised skeletal dysplasia, some of them consistent with those of parastremmatic dwarfism. At the age of five years, she developed Coomb’s positive haemolytic anaemia and thrombocytopenia with a negative auto-antibody screen including anti-enterocyte antibodies.


There might be generalised matrix (including cartilage matrix protein), basement membrane abnormalities or both. A secondary protein leak might occur in the intestine with autosensitisation and development of autoimmune phenomena. More molecular research is needed to identify a possible link.


Tufting Enteropathy Diarrhoea Skeletal 



tufting enteropathy


intractable diarrhoea of infancy


total parenteral nutrition




immune dysregulation-polyendocrinopathy-enteropathy-X link syndrome


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Wael El-Matary
    • 1
  • A. Mark Dalzell
    • 1
  • George Kokai
    • 3
  • Joyce E. Davidson
    • 2
  1. 1.Gastroenterology UnitRoyal Liverpool Children’s NHS TrustLiverpoolUK
  2. 2.Rheumatology UnitRoyal Liverpool Children’s NHS TrustLiverpoolUK
  3. 3.Department of Paediatric HistopathologyRoyal Liverpool Children’s NHS TrustLiverpoolUK

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