title: Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease.
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.
authors.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.
authors.forename: Viraj J
authors.initials: VJ
authors.lastname: Mehta
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Ling
authors.forename: Elizabeth G
authors.initials: EG
authors.lastname: Martinez
authors.forename: Anvesh C
authors.initials: AC
authors.lastname: Reddy
authors.forename: Sean P
authors.initials: SP
authors.lastname: Donahue
mesh_terms: D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D020182:Sleep Apnea, Central / Q000150:complications / Q000175:diagnosis*; D015845:Tonic Pupil / Q000175:diagnosis / Q000209:etiology*