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CC BY-NC-ND 4.0 · AJP Rep 2022; 12(03): e139-e143
DOI: 10.1055/a-1883-0140
Case Report

A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review

Mimily Harsono 
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
,
Sandeep Chilakala
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
,
Shiva Bohn
2   Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
,
Eniko K. Pivnick
2   Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
3   Division of Medical Genetic, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
,
Massroor Pourcyrous
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee
› Author Affiliations Funding None.
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Abstract

We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6 hours of life. Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered later in life. However, the ophthalmic evaluation of this neonate on first day of life revealed persistent mild dilated oval pupils with limited light reactivity.

Keywords

congenital central hypoventilation syndrome - dilated oval pupil - mydriasis oval-shaped pupil - neonate - newborn onset - PHOX2B

Informed Consent

The case report study, which included the photographs (ophthalmology pictures) have received an IRB approval from the University of Tennessee Health Science Center and Le bonheur Children's Hospital to conduct the study. All photographs (ophthalmology pictures) and clinical history provided in this case report have a written consent form signed by patient's parent or legal guardian for the purpose of medical literature publication and education. Patient's personal information was de-identified in the manuscript article and pictures.


Authors' Contribution

M.H. was involved in diagnosing patient care, literature review, obtaining IRB approval, obtaining parental consent, writing the manuscript first draft, manuscript revision, manuscript edition, and approval of the final manuscript as submitted. S.C. was involved in diagnosing, patient care, literature review, ophthalmic photograph, manuscript revision and approval of the final manuscript as submitted. S.B. was involved in the ophthalmologic exam, ophthalmic photograph, manuscript revision, and approval of the final manuscript as submitted. E.P. was involved in diagnosing, genetic evaluation, literature review, critical review, manuscript revision, and approval of the final manuscript as submitted. M.P. was involved in diagnosing, patient care, literature review, critical review, obtaining IRB approval, manuscript revision, manuscript edition, and approval of the final manuscript as submitted.




Publication History

Received: 07 March 2022

Accepted: 01 June 2022

Accepted Manuscript online:
23 June 2022

Article published online:
29 September 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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