Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding th...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2023/6301065 |
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| author | Shooq Alkhalifa Aysha Darwish Mohamed Awadh Salman M. Alkhalifa Abdulla Darwish |
| author_facet | Shooq Alkhalifa Aysha Darwish Mohamed Awadh Salman M. Alkhalifa Abdulla Darwish |
| author_sort | Shooq Alkhalifa |
| collection | DOAJ |
| description | Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs). |
| format | Article |
| id | doaj-art-2036a47276d1445185f7857c46d41a1b |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2036a47276d1445185f7857c46d41a1b2025-02-03T06:08:47ZengWileyCase Reports in Pediatrics2090-68112023-01-01202310.1155/2023/6301065Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology InvestigationsShooq Alkhalifa0Aysha Darwish1Mohamed Awadh2Salman M. Alkhalifa3Abdulla Darwish4BDF Royal Medical ServicesRCSI-BahrainBDF Royal Medical ServicesBDF Royal Medical ServicesBDF Royal Medical ServicesCongenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs).http://dx.doi.org/10.1155/2023/6301065 |
| spellingShingle | Shooq Alkhalifa Aysha Darwish Mohamed Awadh Salman M. Alkhalifa Abdulla Darwish Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations Case Reports in Pediatrics |
| title | Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations |
| title_full | Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations |
| title_fullStr | Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations |
| title_full_unstemmed | Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations |
| title_short | Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations |
| title_sort | congenital tufting enteropathy a rare cause of diarrhea and malnourishment in arab child with genetic and histopathology investigations |
| url | http://dx.doi.org/10.1155/2023/6301065 |
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