Presentation and Treatment of Monozygotic Twins with Congenital Central Hypoventilation Syndrome

Overview

Journal Can Respir J

Publisher Wiley

Specialty Pulmonary Medicine

Date 2011 Apr 19

PMID 21499593

Citations 8

Authors

Reshma Amin

Andrea Riekstins

Suhail Al-Saleh

Colin Massicotte

Allan L Coates

Ian MacLusky

Affiliations

Soon will be listed here.

Abstract

Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.

Citing Articles

[Two children with late-onset congenital central hypoventilation syndrome].

Qiu S, Yang L, Zhong J, Luo X, Liu D Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023; 37(8):656-657.

PMID: 37551575 PMC: 10645523. DOI: 10.13201/j.issn.2096-7993.2023.08.011.

Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series.

Saddi V, Thambipillay G, Pimenta M, Martin B, Blecher G, Teng A Respirol Case Rep. 2022; 10(8):e0999.

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A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Pace N, Bardon M, Borg I Mol Genet Genomic Med. 2020; 8(12):e1528.

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Screening Children with a Family History of Central Congenital Hypoventilation Syndrome.

Emanuel H, Rennie K, MacDonald K, Yadav A, Mosquera R Case Rep Pediatr. 2020; 2020:2713606.

PMID: 32274237 PMC: 7136801. DOI: 10.1155/2020/2713606.

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel Gene Non-Polyalanine Repeat Mutation.

Kasi A, Jurgensen T, Yen S, Kun S, Keens T, Perez I J Clin Sleep Med. 2017; 13(7):925-927.

PMID: 28633714 PMC: 5482585. DOI: 10.5664/jcsm.6670.

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