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

Mimily Harsono; Sandeep Chilakala; Shiva Bohn; Eniko K. Pivnick; Massroor Pourcyrous

doi:10.1055/a-1883-0140

American Journal of Perinatology Reports, Table of Contents

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

¹Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

,

Sandeep Chilakala

¹Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

,

Shiva Bohn

²Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

,

Eniko K. Pivnick

²Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

³Division of Medical Genetic, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

,

Massroor Pourcyrous

¹Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee

› Author Affiliations

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

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References

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