Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome

PURPOSE: To report the association of tonic pupil, congenital neuroblastoma , Hirschsprung disease, and central hypoventilation syndrome, METHODS: Case reports. RESULTS: Two infants with central hypoventilation syndrome and Hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth , In both cases, pharmacologic testing with dilute pilocarpine confirmed de nervation supersensitivity consistent with tonic pupil. The diagnosis of co ngenital neuroblastoma was subsequently established in both infants. CONCLUSIONS: The close association of these conditions in these two young c hildren supports the concept of a common neural crest abnormality being pre sent. A careful systemic evaluation to rule out congenital neuroblastoma sh ould be performed in any young child who presents with tonic pupil in the s etting of central hypoventilation syndrome and Hirschsprung disease. (C) 20 00 by Elsevier Science Inc. All rights reserved.