Document Detail


Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.
MedLine Citation:
PMID:  11004304     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 denervation supersensitivity consistent with tonic pupil. The diagnosis of congenital neuroblastoma was subsequently established in both infants. CONCLUSIONS: The close association of these conditions in these two young children supports the concept of a common neural crest abnormality being present. A careful systemic evaluation to rule out congenital neuroblastoma should be performed in any young child who presents with tonic pupil in the setting of central hypoventilation syndrome and Hirschsprung disease.
Authors:
S R Lambert; L L Yang; C Stone
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of ophthalmology     Volume:  130     ISSN:  0002-9394     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  2000 Aug 
Date Detail:
Created Date:  2000-10-26     Completed Date:  2000-11-01     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  238-40     Citation Subset:  AIM; IM    
Affiliation:
Emory Eye Center, Emory University School of Medicine, Atlanta, Georgia 30322, USA. slamber@emory.edu
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MeSH Terms
Descriptor/Qualifier:
Adrenal Gland Neoplasms / complications,  congenital*,  diagnosis
Fatal Outcome
Female
Hirschsprung Disease / complications*,  diagnosis,  surgery
Humans
Infant, Newborn
Magnetic Resonance Imaging
Neuroblastoma / complications,  congenital*,  diagnosis
Sleep Apnea, Central / complications*,  diagnosis
Syndrome
Tomography, X-Ray Computed
Tonic Pupil / complications*,  diagnosis
Grant Support
ID/Acronym/Agency:
EY08544/EY/NEI NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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