• Clinical and Experimental Pediatrics
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• 제49권4호
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome은 혈중 이산화탄소 증가와 저산소에 대한 자율 신경계와 호흡 조절 기능의 선천성 결함으로 호흡의 저환기가 주로 수면시에 발생하는 질환이다. 이는 신경 이주장애 질환(neurocristopathy)에 속한다고 알려져 있으며 선천성 거대결장 등의 질환과 잘 동반된다. 아직까지 확실한 완치법은 없는 상태이고 환아들은 평생을 환기 보조에 의존하여 생존해야 하며 적절한 환기 보조를 통해서 생존 기간을 연장할 수 있다. 저자들은 출생시부터 반복되는 수면시의 무호흡과 청색증이 있는 환아에서 congenital central hypoventilation 및 선천성 거대 결장이 동반된 1례를 경험하였기에 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제54권4호
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• pp.359-362
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• 2013

Chronic hypoventilation due to injury to the brain stem respiratory center or high cervical cord (above the C3 level) can result in dependence to prolonged mechanical ventilation with tracheostomy, frequent nosocomial pneumonia, and prolonged hospitalization. Diaphragm pacing through electrical stimulation of the phrenic nerve is an established treatment for central hypoventilation syndrome. We performed chronic phrenic nerve stimulation for diaphragm pacing with the spinal cord stimulator for pain control in a quadriplegic patient with central apnea due to complete spinal cord injury at the level of C2 from cervical epidural hematoma. After diaphragmatic pacing, the patient who was completely dependent on the mechanical ventilator could ambulate up to three hours every day without aid of mechanical ventilation during the 12 months of follow-up. Diaphragm pacing through unilateral phrenic nerve stimulation with spinal cord stimulator was feasible in an apneic patient with complete quadriplegia who was completely dependent on mechanical ventilation. Diaphragm pacing with the spinal cord stimulator is feasible and effective for the treatment of the central hypoventilation syndrome.

• Tuberculosis and Respiratory Diseases
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• 제53권5호
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• pp.561-568
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• 2002

비만성 자환기 증후군은 Pickwickian 증후군이라고도 불리우는 환기장애질환으로 폐쇄성 수면무호홉 증후군파 함께 비만과 관련된 대표적인 호흡기 질환이다. 비만환자가 급증하고 있는 현실로 보아 향후 임상에서 보다 자주 접하게 될 가능성이 많은 질환이지만 국내에는 현재까지 1예만이 보고되어 있다. 저자들은 과도한 주간 졸리움 등의 증상을 주소로 내원한 비만환자 3명에서 비만성 저환기 증후군을 진단하고 치료하였기에 문헌고찰과 함께 보고하는 바이다.

• 수면정신생리
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• 제29권1호
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• pp.4-8
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• 2022

Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity (body mass index, [BMI] ≥ 30 kg/m²), daytime hypercapnia (PaCO2 ≥ 45 mm Hg), and sleep breathing disorder, after excluding other causes for hypoventilation. As the obese population increases worldwide, the prevalence of OHS is also on the rise. Patients with OHS have poor quality of life, high risk of frequent hospitalization and increased cardiopulmonary mortality. However, most patients with OHS remain undiagnosed and untreated. The diagnosis typically occurs during the 5th and 6th decades of life and frequently first diagnosed in emergency rooms as a result of acute-on-chronic hypercapnic respiratory failure. Due to the high mortality rate in patients with OHS who do not receive treatment or have developed respiratory failure, early recognition and effective treatment is essential for improving outcomes. Positive airway pressure (PAP) therapy including continuous PAP (CPAP) or noninvasive ventilation (NIV) is the primary management option for OHS. Changes in lifestyle, rehabilitation program, weight loss and bariatric surgery should be also considered.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.11-15
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• 2014

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.

• Advances in pediatric surgery
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• 제5권2호
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• pp.146-151
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• 1999

Neurocristopathy originates from aberrant development of the neural crest by genetic abnormality. Dysgenetic or neoplastic neurocristopathy mayor may not combine at one or more organs. Congenital central hypoventilation syndrome (Ondine's curse) is characterized by the respiratory depression during sleep, although showing normal ventilation while awake, because the baby does not responde to hypercapnea or hypoxia. One newborn girl, full-term, 3,020 g of birth weight with neurocristopathy is reported. It showed poor respiration at birth, and temporary Improvement with oxygen and respiratory stimulations. Abdomen was distended. Abdominal x-ray revealed small bowel obstruction and calcified opacity at the right lower quadrant. Because transitional zone was noticed at the distal jejunum during laparotomy, jejunostomy was performed. Several times trial of extubation have failed becaused of the repeated apneas. Brain sonography and echocardiogram were normal. The patient died of sepsis at 37 days of age. Para-aortic ganglioneuroblastoma was found at autopsy. In this case, congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma are combined as a neurocristopathy.

• 대한장애인치과학회지
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• 제13권1호
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• pp.47-51
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• 2017

Haddad 증후군은 Congenital central hypoventilation syndrome과 Hirschsprung's disease가 함께 나타나는 질환으로 수면 시 호흡 저하를 특징으로 하나, 증상이 심할 경우 깨어있을 때에도 호흡 저하가 나타날 수 있다. 따라서 전신 마취 시, 중추성 억제 약물 사용에 주의를 기울여야 하고, 적절한 환기가 이루어지도록 하는 것이 중요하다. 또한 술 후에도 호흡 저하가 일어나지 않도록 주의를 기울여야 한다.

• 수면정신생리
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• 제27권1호
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• pp.8-15
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• 2020

Sleep disorder in chronic obstructive pulmonary disease (COPD) is common and typically is associated with oxygen desaturation. The mechanisms of desaturation include hypoventilation and ventilation to perfusion mismatch. Despite the importance of sleep in patients with COPD, this topic is under-assessed in clinical practice. Impaired sleep quality is associated with more severe COPD and may contribute to worse clinical outcomes. Recent data have indicated that specific respiratory management of patients with COPD and sleep disordered breathing improves clinical outcomes. Clinicians managing patients with COPD should pay attention to and actively manage symptoms of comorbid sleep disorders. Management of sleep-related problems in COPD should particularly focus on minimizing sleep disturbance.

• The Korean Journal of Physiology and Pharmacology
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• 제1권6호
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• pp.775-781
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• 1997

Although reoxygenation is the best way to salvage hypoxic tissues, reduced oxygen species (ROS) generated during reoxygenation are blown to cause further tissue injuries and the induction of heat shock proteins (HSPs). The present study was undertaken to determine any causal relationship between the severity of hypoxia and the opposite outcomes, either beneficial or detrimental, of the subsequent reoxygenation by measuring the HSP72. To this aim, one group (6 male cats, $2.5{\sim}3.5\;kg$) was subjected to a 5-min episode of hypoventilation (H, ventilation rate: 5/min) for the induction of slight hypoxia and the other group (6 male cats, $2.4{\sim}3.7\;kg$) was subjected to a 5-min episode of apnea (A) for severe hypoxia. Each 3 animals from both groups received a 10-min episode of ventilation with $(95%\;O_2\;(0)$, whereas the remainder did not. After these procedures, all animals were allowed to be ventilated within physiological range for 1, 4, or 8 hours (1H, 1HO, 4H, 4HO, 8H, 8HO, 1A, 1AO, 4A, 4AO, 8A and 8AO groups). Control animals did not receive any manipulation. The arterial blood $pCO_2$ was significantly higher just after apnea than hypoventilation, while $pCO_2$ and pH were significantly lower just after apnea than hypoventilation. Western blot analysis revealed that the magnitude of HSP72 synthesis is larger in 1H, 4H and 8H groups than in 1HO, 4H and 8HO groups, respectively. In contrast, 1AO, 4AO and 8AO groups more induced HSP72 than 1A, 4A and 8A groups, respectively. These results suggest that the reoxygenation is beneficial after slight hypoxia but detrimental after severe hypoxia.

• 대한치과마취과학회지
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• 제13권4호
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• pp.215-220
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• 2013

The co-occurrence of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD) is termed Haddad syndrome, which is an extremely rare discorder. It was reported first by Haddad in 1978 and there are approximately 60 cases reported in the worldwide literature. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. This article presents a case report: Dental treatment of a 3-year-old male patient with Haddad syndrome under outpatient general anesthesia. The special considerations of dental care, especially caries theatment of the patient with Haddad syndrome are discussed.