The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 4
A Rare Cause of Congenital Diarrhea in a Turkish Newborn: Tufting Enteropathy
Divisions of 1Neonatology, and 3Pediatric Gastroenterology, Department of Pediatrics, and 2Department of Pathology, Ankara University, Faculty of Medicine, Ankara, and 4 Department of Pediatrics, Gaziosmanpaşa University Faculty of Medicine, Tokat, Turkey
Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with early-onset severe intractable diarrhea. It presents with watery diarrhea that develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition. The histological characteristic of tufting enteropathy is the presence of epithelial tufts. We hereby present a patient who was referred to our neonatal intensive care unit because of chronic diarrhea and diagnosed with tufting enteropathy according to histological examination. To the best of our knowledge, the newborn case presented here is the first one reported from Turkey. As TE is a very rare disease, it should be considered in patients with continuing diarrhea beginning in the first days of life. Keywords : tufting enteropathy, congenital diarrhea, newborn.
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