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162 A CASE OF TUFTING ENTEROPATHY WITH SKELETAL DYSPLASIA, COOMBS' POSITIVE ANEMIA AND THROMBOCYTOPENIA W El-Matary1, G KoKai2, J Davidson3, AM Dalzell1 INTRODUCTION: Tufting enteropathy, also referred to as intestinal epithelial dysplasia, presents in the first few months of life with chronic watery diarrhea and impaired growth. The molecular basis for this condition is not known.
1Gastroenterology, 2Histopathology and 3Rheumatology Departments, Royal Liverpool Children's NHS Trust, Liverpool, United Kingdom
AIMS: To report our experience of a patient with tufting enteropathy who developed an unusual skeletal dysplasia and abnormal blood picture.
PATIENT: A six-year-old girl presented with neonatal onset of diarrhea and failure to thrive.
METHODS AND RESULTS: After extensive investigations, a diagnosis of tufting enteropathy was made. During the third year of her life, the patient's height velocity ceased. A skeletal survey demonstrated features of generalized skeletal dysplasia, some of them consistent with those of parastremmatic dwarfism. She was noted to have bulbous fragmented ends of her bones with severe platyspondyly. The epiphyses at the ends of the large bones were fused with fragmentation of the femoral capital epiphysis. The intervertebral spaces were markedly shortened. At the age of five years, she developed Coombs' positive hemolytic anemia and thrombocytopenia with a negative autoantibody screen including antienterocyte antibodies.
CONCLUSION: There may be a generalized matrix (including cartilage matrix protein), basement membrane abnormality or both, and autosensitisation due to tight junction protein leak. This may contribute to the clinical and laboratory abnormalities in this patient. Molecular research is needed to identify a possible link.