Abstract
Congenital tufting enteropathy (CTE) is a rare cause of diarrhea in children. However, it can result in early-onset of chronic diarrhea and failure to thrive. Children with this disease have to depend on total parenteral nutrition (TPN), and eventually small intestine transplantation. The epithelial cell adhesion molecule (EPCAM) gene was identified to be associated with CTE. Here, we present a case of an infant with CTE due to a mutation not reported in the literature before. A 1-year and 7-mo infant boy exhibited intractable watery diarrhea and mushy stool within 1 wk after birth, for which he had required medical treatment and hospitalization several times. His sister presented similar symptoms and died at the age of two. On admission, his body weight was 5700 g (-4.8SDS) and measured 66 cm (-5.4SDS) in height. Meanwhile, he cannot speak or climb. He exhibited mild anemia, hypocalcemia, hypomagnesemia, and an infection in the upper respiratory tract. Microvilli sparse and vacuolar degeneration of epithelial cells were reported by small intestine biopsy. Whole-exome sequencing showed a novel homozygous splice mutation (c.657+1[IVS6] G>A) in the EPCAM gene. He was treated with TPN and recombinant human growth hormone. After 2 ...Continue Reading
References
Dec 31, 2003·Transplantation Proceedings·M GambararaM Castro
Apr 24, 2007·Orphanet Journal of Rare Diseases·Olivier GouletNicole Brousse
Jun 24, 2008·Gastroenterology·Mamata SivagnanamHal M Hoffman
Oct 13, 2009·Journal of Pediatric Gastroenterology and Nutrition·Sulaiman M Al-MayoufMosa Faqih
Mar 11, 2010·Journal of Pediatric Gastroenterology and Nutrition·Roberto Berni CananiGiuseppe Castaldo
Oct 29, 2010·Gut and Liver·Jae Sung KoGyeong Hoon Kang
Dec 5, 2012·PloS One·Emanuela GuerraSaverio Alberti
Apr 27, 2013·Biochimica Et Biophysica Acta·Ulrike SchnellBen N G Giepmans
Oct 22, 2013·Human Genetics·Julie SalomonAsma Smahi
Dec 18, 2013·American Journal of Physiology. Gastrointestinal and Liver Physiology·James L MuellerMamata Sivagnanam
Nov 23, 2016·Journal of Clinical Gastroenterology·Wenjuan TangYing Huang
Apr 1, 2017·Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association·Shaden AlMahamed, Abdelhai Hammo
Jul 14, 2017·Cold Spring Harbor Molecular Case Studies·Dale L BodianNatalie S Hauser
Jul 18, 2018·International Journal of Molecular Medicine·Li HuangJiao Guo
Nov 22, 2018·Human Mutation·Sagar J PathakMamata Sivagnanam
Dec 12, 2019·F1000Research·Dulari JayawardenaRavinder K Gill