Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality
Gastroenterology and Hepatology from Bed to Bench,
Vol. 16 No. 2 (2023),
21 April 2023
https://doi.org/10.22037/ghfbb.v16i2.2731
Abstract
The causes of intractable diarrhoea in infancy are varied, and can be classified into enteropathic and non-enteropathic groups. Congenital tufting enteropathy (CTE) is a rare cause of enteropathic form of intractable diarrhoea in infants requiring nutritional supplementation. We herein report a case of CTE in a one-year-old female child who presented with recurrent abdominal distension, frequent watery diarrhoea and marked stunted growth soon after birth. A systematic clinical, laboratory and pathological evaluation brought out the etiology, followed by genotypic confirmation. Histological examination revealed mild villous abnormality with presence of epithelial tufts both in the villous and crypt surface, in the duodenum and rectal biopsies supported by complete loss of MOC31 staining. Deep sequencing revealed homozygous 3’ splice mutation at intron 5 of the EPCAM gene (c.556-14A>G). She was given TPN support and discharged with weight gain under home-based parenteral nutrition supplement. This case brings out the need for a multidisciplinary team approach to reveal underlying the cause of infantile intractable diarrhoea and report a favorable outcome with nutritional supplementation.
- Tufting; enteropathy; congenital; diarrhoea; infant; EPCAM
How to Cite
References
2. Ye Z, Huang Y, Zheng C, Wang Y, Lu J, Wang H, et al. Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China. Genetics in Medicine. 2019;21(10):2224-30.
3. Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. Journal of pediatric gastroenterology and nutrition. 2004;38(1):16-26.
4. Catassi C, Fabiani E, Spagnuolo MI, Barera G, Guarino A. Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. Journal of pediatric gastroenterology and nutrition. 1999;29(1):63-8.
5. Haas K, Martin B, Martín M, Kerner J. Intractable diarrhea in two brothers: late diagnosis of tufting enteropathy in adolescence. Digestive diseases and sciences. 2016 Feb;61(2):381-3.
6. Mantoo MR, Malik R, Das P, Yadav R, Nakra T, Chouhan P. Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis. Indian Journal of Pediatrics. 2021;88(11):1135-8.
7. Patey NA, Scoazec JY, Cuenod-Jabri BA, Canioni DA, Kedinger M, Goulet O, et al. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology. 1997;113(3):833-43.
8. Ranganathan S, Schmitt LA, Sindhi R. Tufting enteropathy revisited: the utility of MOC31 (EpCAM) immunohistochemistry in diagnosis. The American journal of surgical pathology. 2014 Feb 1;38(2):265-72.
9. Reifen RM, Cutz E, Griffiths AM, Ngan BY, Sherman PM. Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. Journal of pediatric gastroenterology and nutrition. 1994;18(3):379-85.
10. Lachaux A, Bouvier R, Loras-Duclaux I, Chappuis JP, Meneguzzi G, Ortonne JP. Isolated deficient α6β4 integrin expression in the gut associated with intractable diarrhea. Journal of pediatric gastroenterology and nutrition. 1999;29(4):395-401.
11. Ng AY, Waring P, Ristevski S, Wang C, Wilson T, Pritchard M, et al. Inactivation of the transcription factor Elf3 in mice results in dysmorphogenesis and altered differentiation of intestinal epithelium. Gastroenterology. 2002;122(5):1455-66.
12. Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, et al. Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review. Pediatric Gastroenterology, Hepatology & Nutrition. 2022;25(6):441-52.
13. Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, et al. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Human mutation. 2019;40(2):142-61.
14. Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet journal of rare diseases. 2007 Dec;2(1):1-6.
15. Das B, Okamoto K, Rabalais J, Kozan PA, Marchelletta RR, McGeough MD, et al. Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. American Journal of Physiology-Gastrointestinal and Liver Physiology. 2019 Nov 1;317(5):G580-91.
16. Cai C, Chen Y, Chen X, Ji F. Tufting enteropathy: a review of clinical and histological presentation, etiology, management, and outcome. Gastroenterology Research and Practice. 2020;2020.
17. Ashworth I, Wilson A, Aquilina S, Parascandalo R, Mercieca V, Gerada J, et al. Reversal of intestinal failure in children with tufting enteropathy supported with parenteral nutrition at home. Journal of Pediatric Gastroenterology and Nutrition. 2018;66(6):967-71.
- Abstract Viewed: 112 times
- PDF Downloaded: 156 times