P0581 CASE REPORT: ONE YEAR OLD CHILD WITH ARTHROGRYPOSIS AND COLLAGENOUS ENTEROPATHY

Abstract

Introduction: The diffuse deposition of collagen in the intestine without the presence of an inflammatory infiltrate (collagenous enteropathy) is rarely encountered, especially in children, and its occurrence with arthrogryposis has not been previously reported. Methods: HD was hospitalized at 12 months of age for diarrhea requiring persistent IV rehydration and nutritional support. Because of the inability to tolerate oral feeds, she had become TPN dependent. Results: On admission, her weight was 6.71 kg (<5%ile). Her physical exam was most striking for a severely limited range of motion with severe joint contractures. While hospitalized, she had large volume secretory diarrhea of 115 cc/kg/day. Small bowel histology showed mild villous blunting with intact enterocytes and goblet cells without increased intraepithelial lymphocytes. Trichrome staining showed a patchy deposition of a thick band of collagen. Histology of the colon showed intact architecture with full crypts. The lamina propria showed a massive increase in collagen, which was also present as a large thickened table sub-epithelially and extended to involve deeper portions of the lamina propria. There was no significant increase in intraepithelial lymphocytes, nor significant active inflammation. She was maintained solely on TPN and had a good weight gain. Octreotide was started with improvement of her secretory diarrhea and with the addition of loperamide, her stool output fell to 30 cc/kg/day. Her TPN was adjusted to account for stool replacement, and she was discharged home. Conclusion: Arthrogryposis is a phenotype marked by multiple joint contractures, secondary to many unrelated disorders. It has been associated in the past with intestinal atresias, but never with collagenous enteropathy. It is our hypothesis that this collagen deposition may be similar to that seen in the joints of patients with arthrogryposis. The fact that the patient tolerated enteral feeds early in infancy, and then had worsening intolerance over the first year of life indicates that this was a progressive deposition of collagen. It appears that this patient may have a defect in the regulation of her connective tissue matrix leading to diffuse collagen deposition.