Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.
OBJECTIVE
To study the value of conjunctival biopsy in congenital tufting enteropathy diagnosis.


METHODS
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.
Roche
Olivier
O
Department 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>
Putterman
Marc
M
Salomon
Julie
J
Lacaille
Florence
F
Brousse
Nicole
N
Goulet
Olivier
O
Dufier
Jean Louis
JL
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003229:Conjunctival Diseases / Q000175:diagnosis*; D003239:Connective Tissue Cells / Q000473:pathology; D003967:Diarrhea / Q000175:diagnosis; D004847:Epithelial Cells / Q000473:pathology; D005260:Female; D005355:Fibrosis; D020397:Goblet Cells / Q000473:pathology; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000151:congenital* / Q000175:diagnosis*; D007413:Intestinal Mucosa / Q000473:pathology*; D007634:Keratitis / Q000175:diagnosis*; D008297:Male; D014456:Ulcer / Q000175:diagnosis*