title: Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.
abstract: 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.
authors.affiliation: 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>
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Marc
authors.initials: M
authors.lastname: Putterman
authors.forename: Julie
authors.initials: J
authors.lastname: Salomon
authors.forename: Florence
authors.initials: F
authors.lastname: Lacaille
authors.forename: Nicole
authors.initials: N
authors.lastname: Brousse
authors.forename: Olivier
authors.initials: O
authors.lastname: Goulet
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Dufier
mesh_terms: 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*