scholarly journals Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

2021 ◽  
Vol 18 (24) ◽  
pp. 13402
Author(s):  
Marta Ditmer ◽  
Szymon Turkiewicz ◽  
Agata Gabryelska ◽  
Marcin Sochal ◽  
Piotr Białasiewicz
Keyword(s):  
Genetic Disease ◽  
Pediatric Patients ◽  
Late Onset ◽  
Current Knowledge ◽  
Adolescent Female ◽  
Congenital Central Hypoventilation Syndrome ◽  
Respiratory Drive ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Made In

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

2020 ◽  
Author(s):  
Mei Mei ◽  
Lin Yang ◽  
Yulan Lu ◽  
Laishuan Wang ◽  
Guoqiang Cheng ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Molecular Testing ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phenotype Correlation ◽  
Mild Phenotype ◽  
Pathogenic Variants ◽  
Neonatal Onset ◽  
Genotype Phenotype Correlation ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Abstract Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in PHOX2B gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. Our study aimed to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenotype correlation.Methods: We made a retrospective analysis of 14 neonates carrying PHOX2B pathogenic variants from 2014 to 2019 and we reviewed previously published neonatal-onset cases. Clinical and genetic data were analyzed. Moreover, genotype-phenotype correlation analysis was performed.Results: We identified a total of 60 cases with neonatal-onset CCHS including 14 novel cases from our local cohort. Nearly 20% (18.2%, 10/55) of the patients were born prematurely. Nearly half (46.2%, 18/39) of the patients had abnormal family history. Polyhydramnios was observed in 21.3% (10/47) of the patients. About 90% of the patients manifested hypoventilation in the first week. Forty-six (76.7%) patients were classified as severer-CCHS. Gastrointestinal manifestations were observed in 71.7% of the patients. Approximately twofold more males than females were affected by Hirschprung disease (HSCR)/variant HSCR (75.8% vs 35%, P=0.003). Neural crest tumor occurred in 9.1% (4/44) patients. Half patients had PARMs in PHOX2B and the left had 23 distinct non-PARMs (NPARMs) with one novel variant (c.684dup). The prevalence of HSCR and mild-CCHS among patients with NPARMs was significantly greater than that of the patients with PARMs.Conclusions: This report provides a large cohort of neonatal-onset CCHS cases. The results indicate that severe hypoventilation and HSCR are frequently observed in this group. NPARMs accounted for half of the cohort with some genotypes tend to be associated with mild phenotype. Molecular testing in suspicious neonates and genetic counseling for CCHS families are highly recommended.

scholarly journals CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (TWO CASES FROM THE SAME FAMILY)

2019 ◽  
Vol 20 (3) ◽  
pp. 180-184
Author(s):  
N. I. Zryachkin ◽  
G. V. Zaytseva ◽  
S. A. Khmilevskaya ◽  
M. A. Kuznetsova ◽  
Tatiana V. Elizarova
Keyword(s):  
Genetic Disease ◽  
Patient Management ◽  
Control Of Breathing ◽  
The Body ◽  
Autonomous Control ◽  
Inadequate Response ◽  
Congenital Central Hypoventilation Syndrome ◽  
Clinical Observations ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

There is described the clinical picture of a rare genetic disease - idiopathic Congenital Central Hypoventilation Syndrome (CCHS), characterized by the disturbance of the autonomous control of breathing, leading to an inadequate response to ventilation, hypercapnia and anoxia of the body. There are presented clinical observations of CCHS in two girls from the same family, who had the classic symptoms of the disease. Correct and timely diagnosis was shown to allow timely provide adequate patient management.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

2014 ◽  
Vol 19 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Joana Magalhães ◽  
Núria Madureira ◽  
Rita Medeiros ◽  
Paula C. Fernandes ◽  
Myriam Oufadem ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)

2021 ◽  
Vol 14 ◽  
Author(s):  
Simona Di Lascio ◽  
Roberta Benfante ◽  
Silvia Cardani ◽  
Diego Fornasari
Keyword(s):  
Protein Misfolding ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Congenital Central Hypoventilation Syndrome ◽  
Therapeutic Approaches ◽  
Transcriptional Dysregulation ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of neurodevelopment, with an autosomal dominant transmission, caused by heterozygous mutations in the PHOX2B gene. CCHS is a rare disorder characterized by hypoventilation due to the failure of autonomic control of breathing. Until now no curative treatment has been found. PHOX2B is a transcription factor that plays a crucial role in the development (and maintenance) of the autonomic nervous system, and in particular the neuronal structures involved in respiratory reflexes. The underlying pathogenetic mechanism is still unclear, although studies in vivo and in CCHS patients indicate that some neuronal structures may be damaged. Moreover, in vitro experimental data suggest that transcriptional dysregulation and protein misfolding may be key pathogenic mechanisms. This review summarizes latest researches that improved the comprehension of the molecular pathogenetic mechanisms responsible for CCHS and discusses the search for therapeutic intervention in light of the current knowledge about PHOX2B function.

Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report

2011 ◽  
Vol 16 (4) ◽  
pp. 951-955 ◽  
Author(s):  
Lia Rita Azeredo Bittencourt ◽  
Mario Pedrazzoli ◽  
Fabiana Yagihara ◽  
Gabriela Pontes Luz ◽  
Silvério Garbuio ◽  
...  
Keyword(s):  
Case Report ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Invasive Treatment ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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