Purpose: To study the value of conjunctival biopsy in congenital tufting enteropathy diagnosis.
Design: Case-comparative study.
Methods: Between January 2000 and June 2007, all children seeking treatment with an early onset of intractable diarrhea were examined in the ophthalmology department of Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, France. Children underwent complete ophthalmologic examination with concurrent conjunctival and intestinal biopsies. Main outcome measures were age at diagnosis, associated disorders, parenteral nutrition, and ophthalmologic symptoms. Conjunctival biopsies support diagnosis in the presence of specific alteration.
Results: Twenty patients were included. The mean age of the population was 30.2 months. Congenital tufting enteropathy was diagnosed in 15 cases. In the congenital tufting enteropathy group, 10 children exhibited ophthalmic functional disorders since the first months of life, with superficial punctate keratitis and conjunctivitis and in addition alacrima and cataract in 1 case, respectively, whereas 5 children had asymptomatic conjunctival hyperemia at presentation. Conjunctival biopsies showed epithelial parakeratosis, hyperplasia, basal cells hyperplasia, and tufts. In some cases, the lamina propria contained inflammatory cells or fibrosis, and the density of goblet cells then was abnormal. In the comparison group of 5 children with early-onset intractable diarrhea but without congenital tufting enteropathy diagnosis, no tuft occurrence was observed.
Conclusions: In cases of intractable diarrhea in infancy, even without ocular symptoms, a systematic ophthalmologic examination should be performed. It also should be associated with the pathologic examination of both the conjunctival and the intestine mucosae, which helps to diagnose congenital tufting enteropathy (adhesion molecules disease). Specific conjunctival findings allow affirmation of congenital tufting enteropathy before the genetic confirmation of an EpCAM gene mutation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ajo.2010.01.034 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Three patients with new mutations in the variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Transl Pediatr
August 2024
Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai, China.
Background: Congenital tufting enteropathy (CTE) is a rare cause of intractable congenital diarrhea in children, always resulting in parenteral nutrition (PN) dependency. We aimed to report novel mutations in Chinese patients and to illustrate the clinical, histopathological, and molecular features of CTE in China.
Case Description: We report three cases of CTE diagnosed with whole-exome sequencing (WES) and MOC31 [a monoclonal antibody of epithelial cell adhesion molecule (EPCAM)] immunohistochemistry.
Approach to Congenital Diarrhea and Enteropathies (CODEs).
Indian J Pediatr
June 2024
Department of Gastroenterology, Queensland Children's Hospital, South Brisbane, QLD, Australia.
Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD).
View Article and Find Full Text PDFBiallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.
Am J Med Genet A
March 2024
Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Biallelic SPINT2 pathogenic variants cause a syndromic form of congenital diarrhea and enteropathy (OMIM 270420). To date, 35 patients have been reported and all presented with additional extra-intestinal features, apart from one case. We report on a 5-year-old girl who presented early in life with diarrhea and was found to have a novel homozygous variant in SPINT2.
View Article and Find Full Text PDFPostoperative Relapse Prediction in Patients With Ewing Sarcoma Using Computed Tomography-Based Radiomics Models Covering Tumor Per Se and Peritumoral Signatures.
J Comput Assist Tomogr
November 2023
From the Department of Radiology, Peking University People's Hospital.
Objective: We aimed to develop and validate a computed tomography (CT)-based radiomics model for early relapse prediction in patients with Ewing sarcoma (ES).
Methods: We recruited 104 patients in this study. Tumor areas and areas with a tumor expansion of 3 mm were used as regions of interest for radiomics analysis.
Not all enteropathies are coeliac disease! Report of an infant with microvillus inclusion disease.
Gastroenterol Hepatol Bed Bench
January 2023
Department of Pathology, Ankara University Medical School, Ankara, Turkey.
Primary enteropathies of infancy comprise of epithelial defects including microvillus inclusion disease, tufting enteropathy, and enteroendocrine cell dysgenesis and autoimmune enteropathies. The diseases in this group cause severe chronic (>2-3 weeks) diarrhoea starting in the first weeks of life and resulting in failure to thrive in the infant. Duodenal biopsies show moderate villous shortening together with crypt hyperplasia which are the main features causing resemblance to coeliac disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!