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Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy
Olivier Roche1, Marc Putterman, Julie Salomon
1Department of Ophthalmology, Necker-Enfants Malades Hospital, Hôpitaux de Paris, University René Descartes-Paris V, France. olivier.roche@nck.aphp.fr <olivier.roche@nck.aphp.fr>
Insights
Conjunctival biopsy aids in diagnosing congenital tufting enteropathy, even without obvious eye symptoms. This method, alongside intestinal biopsy, confirms the condition before genetic testing.
Area of Science:
- Gastroenterology
- Ophthalmology
- Pathology
Background:
- Congenital tufting enteropathy (CTE) is a rare genetic disorder causing severe malabsorption and intractable diarrhea in infants.
- Early diagnosis is crucial for managing nutritional deficiencies and improving outcomes.
- Ocular manifestations can occur in CTE, but are not always present.
Purpose of the Study:
- To evaluate the diagnostic value of conjunctival biopsy in identifying congenital tufting enteropathy.
- To correlate conjunctival findings with intestinal pathology and clinical presentation in children with intractable diarrhea.
Main Methods:
- A case-comparative study involving 20 children with early-onset intractable diarrhea.
- Ophthalmologic examinations including conjunctival biopsies were performed concurrently with intestinal biopsies.
- Histopathological analysis of conjunctival and intestinal tissues was conducted.
Main Results:
- Fifteen out of 20 patients were diagnosed with congenital tufting enteropathy.
- Conjunctival biopsies revealed characteristic alterations such as epithelial parakeratosis, hyperplasia, and tuft formation in CTE cases.
- No tuft structures were observed in the conjunctival biopsies of the control group.
Conclusions:
- Conjunctival biopsy is a valuable diagnostic tool for congenital tufting enteropathy, even in the absence of apparent ocular symptoms.
- Combined histopathological examination of conjunctival and intestinal mucosa supports CTE diagnosis, preceding genetic confirmation.
- Systematic ophthalmologic evaluation and conjunctival biopsy are recommended for infants with intractable diarrhea.
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.
