| Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. | |
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MedLine Citation:
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PMID: 11004304 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S R Lambert; L L Yang; C Stone |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of ophthalmology Volume: 130 ISSN: 0002-9394 ISO Abbreviation: Am. J. Ophthalmol. Publication Date: 2000 Aug |
Date Detail:
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Created Date: 2000-10-26 Completed Date: 2000-11-01 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0370500 Medline TA: Am J Ophthalmol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 238-40 Citation Subset: AIM; IM |
Affiliation:
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Emory Eye Center, Emory University School of Medicine, Atlanta, Georgia 30322, USA. slamber@emory.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Gland Neoplasms
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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:
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EY08544/EY/NEI NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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