Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease

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Title Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease
Creator Viraj J. Mehta, MD, MBA; Joseph J. Ling, BA; Elizabeth G. Martinez, DO; Anvesh C. Reddy, MD; Sean P. Donahue, MD, PhD
Affiliation Department of Ophthalmology (VJM, AR, SD), Vanderbilt Eye Institute, Nashville, Tennessee; Morehouse School of Medicine (JL), Atlanta, Georgia; and Department of Pathology, Microbiology, and Immunology (EGM), Vanderbilt University Medical Center, Nashville, Tennessee
Abstract Autonomic dysfunction can be associated with pupillary abnormalities. We describe a rare association of tonic pupils, congenital central hypoventilation syndrome, and Hirschsprung disease in a newborn with a mutation in the PHOX2B gene, a key regulator of neural crest cells. Hirschsprung disease is characterized by the congenital absence of neural crest-derived intrinsic ganglion cells. Tonic pupils may result from an abnormality of the ciliary ganglion, another structure of neural crest origin. The close association of these conditions in this child suggests a common abnormality in neural crest migration and differentiation.
Subject Female; Hirschsprung Disease; Humans; Hypoventilation; Infant, Newborn; Magnetic Resonance Imaging; Sleep Apnea, Central; Tonic Pupil
OCR Text Show
Date 2016-12
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2016, Volume 36, Issue 4
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s64788cf
Setname ehsl_novel_jno
ID 1293157
Reference URL https://collections.lib.utah.edu/ark:/87278/s64788cf
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