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Congenital Central hypoventilation syndrome

Mark Wigginton, Laura Lehrian
We compare airway management and lung isolation methods in two pediatric cases of congenital central hypoventilation syndrome undergoing bilateral throacoscopic phrenic-nerve-stimulator surgery. One child received lung isolation using a 7Fr bronchial blocker in conjunction with a 6.0 cuffed endotracheal tube; and the second received a technique of endobronchial intubation using a 3.5 microcuffed tube via the tracheostomy stoma in conjunction with 5.0 cuffed endotracheal intubation; a technique previously undescribed in pediatric patients...
October 20, 2016: Paediatric Anaesthesia
Debra E Weese-Mayer, Casey M Rand, Amy Zhou, Michael S Carroll, Carl E Hunt
The "bedside-to-bench" CCHS research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS) regulation, and improved clinical outcomes. CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort report (1992), delineating clinical presentation and treatment options. A central role of ANS dysregulation (2001) emerged, precipitating evaluation of genes critical to ANS development, and subsequent 2003 identification of PHOX2B as the disease-defining gene for CCHS...
September 27, 2016: Pediatric Research
Sushma Malik, Mani Singhal, Shruti Sudhir Jadhav, Charusheela Sujit Korday, Chitra Shivanand Nayak
BACKGROUND: Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage-hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies...
2016: Journal of Medical Case Reports
Eva Klaskova, Jiri Drabek, Milada Hobzova, Vratislav Smolka, Miroslav Seda, Jiri Hyjanek, Rastislav Slavkovsky, Jana Stranska, Martin Prochazka
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. CASE REPORT: Proband. A girl, hospitalised 5 times for respiratory failure from 6 weeks old, presented at 4 years of age severe cyanosis related to pneumonia. Tracheostomy was done, and she was discharged home using a portable positive pressure ventilator during sleep...
August 2, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, Silvia García Martínez, Ha Trang, Angel Campos Barros, Ana Llorente de la Fuente, Arturo Hernández González, Amaya Bustinza Arriortua, Jesús de la Cruz Moreno, Martí Pons Odena, Purificación Ventura Faci, Laura Rubio Ortega, Estela Pérez Ruiz, Antonio Aguilar Fernández, Amaya Pérez Ocón, Borja Osona, Isabel Delgado Pecellin, Ignacio Arroyo Carrera, Javier Sayas Catalán, Elvira González Salas, Carlos Martin de Vicente
INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015...
July 1, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Viraj J Mehta, Joseph J Ling, Elizabeth G Martinez, Anvesh C Reddy, Sean P Donahue
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...
June 21, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Thiago S Moreira, Ana C Takakura, Catherine Czeisler, Jose J Otero
The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis...
August 1, 2016: Journal of Neurophysiology
Montida Veeravigrom, Tayard Desudchit
OBJECTIVE: To evaluate the prevalence of sleep disorders in Thai children who underwent polysomnography at a single institution. METHODS: A retrospective analysis of pediatric polysomnographic studies was performed from January 2011 through December 2014. RESULTS: One hundred sixty-six studies were conducted; 142, 7, and 17 were diagnostic, split-night, and positive airway pressure (PAP) titration studies, respectively. In total, 136 diagnostic/split-night studies were performed to diagnose sleep disorders with presentation of snoring (92...
May 26, 2016: Indian Journal of Pediatrics
Simona Di Lascio, Debora Belperio, Roberta Benfante, Diego Fornasari
Heterozygous mutations of the human PHOX2B gene, a key regulator of autonomic nervous system development, lead to congenital central hypoventilation syndrome (CCHS), a neurodevelopmental disorder characterized by a failure in the autonomic control of breathing. Polyalanine expansions in the 20-residues region of the C terminus of PHOX2B are the major mutations responsible for CCHS. Elongation of the alanine stretch in PHOX2B leads to a protein with altered DNA binding, transcriptional activity, and nuclear localization and the possible formation of cytoplasmic aggregates; furthermore, the findings of various studies support the idea that CCHS is not due to a pure loss of function mechanism but also involves a dominant negative effect and/or toxic gain of function for PHOX2B mutations...
June 17, 2016: Journal of Biological Chemistry
Fanny Joubert, Anne-Sophie Perrin-Terrin, Emilienne Verkaeren, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugière, Isabelle Rivals, Thomas Similowski, Christian Straus, Laurence Bodineau
Congenital central hypoventilation syndrome (CCHS) is a neurorespiratory disease characterized by life-threatening sleep-related hypoventilation involving an alteration of CO2/H(+) chemosensitivity. Incidental findings have suggested that desogestrel may allow recovery of the ventilatory response to CO2. The effects of desogestrel on resting ventilation have not been reported. This study was designed to test the hypothesis that desogestrel strengthens baseline ventilation by analyzing the ventilation of CCHS patients...
August 2016: Neuropharmacology
Claire M Ellender, Craig A Hukins
No abstract text is available yet for this article.
April 4, 2016: Medical Journal of Australia
Syuan-Yu Hong, Yue-Loong Hsin, Inn-Chi Lee
No abstract text is available yet for this article.
August 2016: Pediatrics and Neonatology
Alexander Tsoutsinos, Evangelos Karanasios, Andrew C Chatzis
Congenital central hypoventilation syndrome (CCHS) causes predominantly sleep apnoea and is one of a growing number of inherited disorders characterised by autonomic nervous system dysfunction/dysregulation (ANSD). In association with Hirschsprung's disease (HSCR), it presents as Haddad's syndrome. We report a case of Haddad's syndrome complicated by sinus node dysfunction.
January 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
Renata Lazari Sandoval, Carlos Moreno Zaconeta, Paulo Roberto Margotto, Maria Teresinha de Oliveira Cardoso, Evely Mirella Santos França, Cristina Touguinha Neves Medina, Talyta Matos Canó, Aline Saliba de Faria
OBJECTIVE: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis...
September 2016: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
Izabela Szymońska, Thore Langfeldt Borgenvik, Tina Margrethe Karlsvik, Anders Halsen, Bianka Kathryn Malecki, Sindre Ervik Saetre, Mateusz Jagła, Piotr Kruczek, Anna Madetko Talowska, Grażyna Drabik, Magdalena Zasada, Marek Malecki
INTRODUCTION: Neuroblastoma (NB), Hirschsprung disease (HSCR), Congenital Central Hypoventilation Syndrome (CCHS), clinically referred as the NB-HSCR-CCHS cluster, are genetic disorders linked to mutations in the PHOX2B gene on chromosome 4p12. SPECIFIC AIM: The specific aim of this project is to define the PHOX2B gene mutations as the genomic basis for the clinical manifestations of the NB-HSCR-CCHS cluster. PATIENT: A one day old male patient presented to the Jagiellonian University Medical College (JUMC), American Children Hospital, neonatal Intensive Care Unit (ICU) due to abdominal distention, vomiting, and severe apneic episodes...
December 2015: Journal of Genetic Syndrome & Gene Therapy
Harvey B Sarnat, Laura Flores-Sarnat
Fetuses as early as 15 weeks' gestation exhibit rhythmical respiratory movements shown by real-time ultrasonography. The nucleus/tractus solitarius is the principal brainstem respiratory center; other medullary nuclei also participate. The purpose was to determine temporal maturation of synaptogenesis. Delayed synaptic maturation may explain neurogenic apnea or hypoventilation of prematurity and some cases of sudden infant death syndrome. Sections of medulla oblongata were studied from 30 human fetal and neonatal brains 9 to 41 weeks' gestation...
May 2016: Journal of Child Neurology
Ronald M Harper, Rajesh Kumar, Paul M Macey, Rebecca K Harper, Jennifer A Ogren
Congenital central hypoventilation syndrome (CCHS) patients show major autonomic alterations in addition to their better-known breathing deficiencies. The processes underlying CCHS, mutations in the PHOX2B gene, target autonomic neuronal development, with frame shift extent contributing to symptom severity. Many autonomic characteristics, such as impaired pupillary constriction and poor temperature regulation, reflect parasympathetic alterations, and can include disturbed alimentary processes, with malabsorption and intestinal motility dyscontrol...
2015: Frontiers in Neuroscience
Orlane Ballot, Sofien Laouafa, Elizabeth Elliot-Portal, Rose Tam, Nicolas Voituron, Vincent Joseph, Jorge Soliz
The stimulation of central chemoreceptors by CO2 is considered essential for breathing. The supporting evidence include the fact that central apnea in neonates correlates with immaturity of the CO2-sensing mechanism, and that congenital central hypoventilation syndrome (CCHS) is characterized by the absence of a ventilatory response to elevated PCO2. We reported previously that cerebral erythropoietin (Epo) is a potent respiratory stimulant upon normoxia and hypoxia. The injection of soluble Epo receptor (sEpoR; the natural EpoR competitor to bind Epo) via the cisterna magna (ICI: intra-cisternal injection) decreases basal ventilation in adult and newborn mice...
November 16, 2015: Neuroscience Letters
Yousheng Yan, Bin Yi, Donghai Liu, Fangping Zhao, Chuan Zhang, Xue Chen, Shengju Hao
OBJECTIVE To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis. METHODS Clinical data of an infant with CCHS was collected and analyzed. Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism (amp-FLP) and DNA sequencing. RESULTS The patient had typical clinical features of CCHS including frequent hypoventilation during sleeping, hypoxemia and hypercapnia which could be corrected by continuous ventilatory support...
October 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
P Jaiyeola, D El-Metwally, R Viscardi, C Greene, H Woo
Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.
2015: Journal of Neonatal-perinatal Medicine
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