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

Autor:	Mimily Harsono, Sandeep Chilakala, Shiva Bohn, Eniko K. Pivnick, Massroor Pourcyrous
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	congenital central hypoventilation syndrome dilated oval pupil mydriasis oval-shaped pupil neonate newborn onset phox2b Gynecology and obstetrics RG1-991
Zdroj:	American Journal of Perinatology Reports, Vol 12, Iss 03, Pp e139-e143 (2022)
Druh dokumentu:	article
ISSN:	2157-6998 2157-7005
DOI:	10.1055/a-1883-0140
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/e575ced3f4d04393bef0ea847d4d21ce Zobrazit plný text záznamu View record in DOAJ