scholarly journals A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

2014 ◽  
Vol 10 (03) ◽  
pp. 327-329 ◽  
Author(s):  
Yuko Amimoto ◽  
Kenji Okada ◽  
Hiroshi Nakano ◽  
Ayako Sasaki ◽  
Kiyoshi Hayasaka ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Novel Mutation ◽  
Central Sleep Apnea ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

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.

scholarly journals Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Karin Ljubič ◽  
Iztok Fister ◽  
Iztok Fister
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Controller ◽  
Future Challenges ◽  
The Central Nervous System ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Cardiovascular Functions

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

scholarly journals A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

2010 ◽  
Vol 25 (8) ◽  
pp. 1237 ◽  
Author(s):  
Kyoung-Ah Kwon ◽  
Su-Eun Park ◽  
Shin-Yun Byun ◽  
Shine-Young Kim ◽  
Sang-Hyoun Hwang
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

2010 ◽  
Vol 173 (3) ◽  
pp. 322-335 ◽  
Author(s):  
Pallavi P. Patwari ◽  
Michael S. Carroll ◽  
Casey M. Rand ◽  
Rajesh Kumar ◽  
Ronald Harper ◽  
...  
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Autonomic Dysregulation ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis?

2012 ◽  
Vol 80 (8) ◽  
pp. 688-690 ◽  
Author(s):  
Nilay Nirupam ◽  
Rajni Sharma ◽  
Viswas Chhapola ◽  
Sandeep Kumar Kanwal ◽  
Elizabeth M. Berry-Kravis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant

2021 ◽  
Author(s):  
Paola Silvestri ◽  
Antonio Pizzuti ◽  
Paolo Rinaldi ◽  
Veronica Giansanti ◽  
Giusy Russo ◽  
...  
Keyword(s):  
De Novo ◽  
Pathogenic Variant ◽  
Breath Holding ◽  
Congenital Central Hypoventilation Syndrome ◽  
Arterial Blood Gas ◽  
Phox2b Gene ◽  
Ret Gene ◽  
Arterial Blood ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Abstract Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder characterized by a failure in physiologic autonomic control of breathing resulting in apnoea, hypoxemia, and hypoventilation episodes, associated to a large spectrum of autonomic nervous system dysfunctions. Despite this condition is most likely caused by mutations in the PHOX2B gene, other genes have been found responsible for CCHS in rare cases. Case report: We report a 15-month-old toddler presenting episodes of central and obstructive apnoea with cyanosis, hypertonia, hypercapnia, and cyanotic breath-holding spells. The CCHS diagnosis was supported by central desaturating apnoea/hypopneas episodes during rapid eye movement sleep and obstructive apnoea in polysomnography, as well as by the presence of hypoxia and hypercapnia in arterial blood gas during critical episodes. Autonomic dysregulation with sporadic profuse sweating and gastrointestinal dysmotility resulting in gastro-oesophageal reflux and chronic constipation were also associated. Next Generation Sequencing revealed the missense variant p.Met918Thr in the RET gene.Conclusion: This case, identifying a de novo pathogenic variant in the RET gene, highlights the importance of using clinical exome sequencing or a panel of genes associated with the specific disease, rather than looking for mutations in the single most frequently correlated gene.

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