scholarly journals Presentation and Treatment of Monozygotic Twins with Congenital Central Hypoventilation Syndrome

2011 ◽  
Vol 18 (2) ◽  
pp. 87-89 ◽  
Author(s):  
Reshma Amin ◽  
Andrea Riekstins ◽  
Suhail Al-Saleh ◽  
Colin Massicotte ◽  
Allan L Coates ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Noninvasive Positive Pressure Ventilation ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Clinical Severity ◽  
Positive Pressure ◽  
Congenital Central Hypoventilation Syndrome ◽  
Current Case ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

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.

scholarly journals Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case report

2021 ◽  
Author(s):  
Reihaneh Khorasanian ◽  
Marzieh Mojbafan ◽  
Nastaran Khosravi
Keyword(s):  
Genetic Analysis ◽  
Genetic Study ◽  
Genetic Disorder ◽  
Repeat Expansion ◽  
Congenital Central Hypoventilation Syndrome ◽  
The Family ◽  
Central Hypoventilation ◽  
Genetics And Genomics ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation

Abstract I. Background: Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by autonomic nervous system (ANS) dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a CCHS patient in Iran.II. Methods and Results: Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) guideline. The results showed a heterozygous duplication in the exon 3 causing a polyalanine repeat expansion mutation (PARMs) to 27 repeats in the PHOX2B gene (20/27 genotype). The patient’s parents were normal for this mutation.III. Conclusions: According to the ACMG guideline, the mutation is a pathogenic one, and it was a denovo mutation in the family. The genetic study can help the family for prenatal diagnosis or pre-implantation diagnosis if the parents have gonadal mosaicism.

scholarly journals Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study

2020 ◽  
Author(s):  
Tomomi Ogata ◽  
Kazuhiro Muramatsu ◽  
Kaori Miyana ◽  
Hiroshi Ozawa ◽  
Motoki Iwasaki ◽  
...  
Keyword(s):  
Intellectual Development ◽  
Neurodevelopmental Outcome ◽  
Retrospective Chart Review ◽  
Positive Pressure ◽  
Congenital Central Hypoventilation Syndrome ◽  
Respiratory Management ◽  
Significant Difference ◽  
Central Hypoventilation ◽  
Respiratory Treatment ◽  
Hypoventilation Syndrome

Abstract Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however, data on the relationship between respiratory management and the prognosis for intellectual development of patients with CCHS is not well yet investigate. Methods: We performed a retrospective chart review cohort study of patients with CCHS in Japan. We investigated the risk and prognostic factors for developmental outcomes and examined the disease in terms of its symptoms, diagnosis, complications, and treatment. Results: Of the 123 patients with CCHS included in the survey, 88 patients were 6 years old and older. They were divided into two group based on their intelligence quotient. Those treated using positive-pressure ventilation via tracheostomy in the first three months of life had a better developmental prognosis than those managed via tracheostomy after three months of age and those treated by ventilation using mask (OR = 3.80; 95% CI: 1.00–14.37, OR = 4.65; 95% CI: 1.11–19.37). There was no significant difference in physical development (P = 0.64).Conclusions: The best respiratory treatment for patients with CCHS is ventilation via tracheostomy, initiated ideally before the age of three months.

Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant

2021 ◽  
Vol 14 (3) ◽  
pp. e239633
Author(s):  
Neesha Anand ◽  
Roberta M Leu ◽  
Dawn Simon ◽  
Ajay S Kasi
Keyword(s):  
Respiratory Failure ◽  
Respiratory Acidosis ◽  
Term Infant ◽  
Positive Pressure ◽  
Congenital Central Hypoventilation Syndrome ◽  
Term Infants ◽  
Phox2b Gene ◽  
Obstructive Sleep ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

A 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure. Examination revealed episodes of apnoea and desaturation to 85% without any signs of respiratory distress requiring initiation of non-invasive positive pressure ventilation (NPPV). Capillary blood gas was indicative of respiratory acidosis and serum bicarbonate was elevated at 35 mmol/L. Chest radiograph, echocardiogram and evaluations for infectious aetiologies resulted normal. Due to inability to wean off NPPV with ensuing apnoea and desaturation, polysomnogram was performed and showed central and obstructive sleep apnoea, hypoxaemia and hypoventilation. Central apnoeas and hypoventilation were worse in non-rapid eye movement sleep. Paired-like homeobox 2B genetic studies showed a novel non-polyalanine repeat mutation (c.429+1G>A) establishing the diagnosis of congenital central hypoventilation syndrome (CCHS). Our case highlights the utility of polysomnography in the evaluation of term infants with apnoea. Although rare, clinicians should consider a diagnosis of CCHS in the evaluation of infants with apnoea and hypoventilation.

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.

scholarly journals Neurodevelopmental Outcome and Respiratory Management of Congenital Central Hypoventilation Syndrome: A case control study

2020 ◽  
Author(s):  
Tomomi Ogata ◽  
Kazuhiro Muramatsu ◽  
Kaori Miyana ◽  
Hiroshi Ozawa ◽  
Motoki Iwasaki ◽  
...  
Keyword(s):  
Intellectual Development ◽  
Neurodevelopmental Outcome ◽  
Retrospective Chart Review ◽  
Positive Pressure ◽  
Congenital Central Hypoventilation Syndrome ◽  
Respiratory Management ◽  
Significant Difference ◽  
Central Hypoventilation ◽  
Respiratory Treatment ◽  
Hypoventilation Syndrome

Abstract Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however, data on the relationship between respiratory management and the prognosis for intellectual development of patients with CCHS is scarce. Methods: We performed a retrospective chart review cohort study of patients with CCHS in Japan. We investigated the risk and prognostic factors for developmental outcomes and examined the disease in terms of its symptoms, diagnosis, complications, and treatment. Results: Of the 123 patients with CCHS included in the survey, 88 patients were 6 years old and older. They were divided into two group based on their IQ. Those treated using positive-pressure ventilation via tracheostomy in the first three months of life had a better developmental prognosis than those managed via tracheostomy after three months of age and those treated by ventilation using mask (OR = 3.80; 95% CI: 1.00–14.37, OR = 4.65; 95% CI: 1.11–19.37). There was no significant difference in physical development (P = 0.64). Conclusions: The best respiratory treatment for patients with CCHS is ventilation via tracheostomy, initiated ideally before the age of three months.

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME ASSOCIATED WITH HIRSCHSPRUNG’S DISEASE

2018 ◽  
Vol 5 (3) ◽  
pp. 32-36
Author(s):  
Daniel Jhonatas Silvério De Lima ◽  
Nadine Nair De Pina Tavares ◽  
Lucas dos Santos Alcantara ◽  
Lúcia Caetano Pereira ◽  
Andrea Silva Do Amaral
Keyword(s):  
Sleep Apnea ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Life Support ◽  
Genetic Disorder ◽  
Central Sleep Apnea ◽  
Clinical Aspects ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

RESUMO A síndrome de hipoventilação central congênita (SHCC) é uma desordem genética rara, associada a mutações no gene paired-like homeobox 2B (PHOX2B), caracterizada por disautonomia e apneia central. A doença de Hirschsprung (DH) está presente em cerca de 20% dos casos de SHCC. Este estudo objetiva relatar o caso de um neonato que apresentou apneia central recorrente, eliminação tardia de mecônio e distensão abdominal diagnosticado com DH associada a SHCC, comparando-se os aspectos clínicos esperados e os encontrados pela equipe que assistiu a criança. Nota-se um retardo no diagnóstico principalmente pela raridade da síndrome e ao seu desconhecimento por parte dos profissionais da saúde. Sendo assim, conclui-se ser imprescindível medidas de suporte, diagnóstico e tratamento precoces pelo risco de complicações graves que ambas as doenças podem acarretar ao recém nascido.   Palavras-chave: Síndrome de hipoventilação central congênita, síndrome de Ondine, gene PHOX2B, doença de Hirschsprung,  síndrome de Haddad. ABSTRACT Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder associated with mutations in paired-like homeobox 2B gene (PHOX2B), characterized by dysautonomia and central sleep apnea. Hirschsprung's disease (HD) is present in about 20% of CCHS cases. This study aims to report the case of a neonate who presented with sleep apnea, late elimination of meconium and abdominal distension diagnosed with CCHS associated with HD, comparing the clinical aspects expected and those found by the medical team that attended the child. There was a delay in the diagnosis, mainly due to the rarity of the syndrome and the lack of knowledge about the disease by health professionals. Therefore, it is concluded that life support, early diagnosis, and treatment are essential due to the risk of serious complications that both diseases can cause to the newborn. Keywords: Congenital central hypoventilation syndrome, Ondine’s curse, PHOX2B gene, Hirschsprung's disease, Haddad syndrome.

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