• Clinical and Experimental Pediatrics
• /
• 제49권4호
• /
• pp.446-450
• /
• 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
• /
• 제54권4호
• /
• pp.359-362
• /
• 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.

• Journal of Genetic Medicine
• /
• 제11권1호
• /
• pp.11-15
• /
• 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
• /
• 제5권2호
• /
• pp.146-151
• /
• 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
• /
• 제13권1호
• /
• pp.47-51
• /
• 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.

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

• 수면정신생리
• /
• 제6권1호
• /
• pp.19-25
• /
• 1999

Sleep alters both breathing pattern and the ventilatory responses to external stimuli. These changes during sleep permit the development or aggravation of sleep-related hypoxemia in patients with respiratory disease and contribute to the pathogenesis of apneas in patients with the sleep apnea syndrome. Fundamental effects of sleep on the ventilatory control system are 1) removal of wakefulness input to the upper airway leading to the increase in upper airway resistance, 2) loss of wakefulness drive to the respiratory pump, 3) compromise of protective respiratory reflexes, and 4) additional sleep-induced compromise of ventilatory control initiated by reduced functional residual capacity on supine position assumed in sleep, decreased $CO_2$ production during sleep, and increased cerebral blood flow in especially rapid eye movement(REM) sleep. These effects resulted in periodic breathing during unsteady non-rapid eye movement(NREM) sleep even in normal subjects, regular but low ventilation during steady NREM sleep, and irregular breathing during REM sleep. Sleep-induced breathing instabilities are divided due primarily to transient increase in upper airway resistance and those that involve overshoots and undershoots in neural feedback mechanisms regulating the timing and/or amplitude of respiratory output. Following ventilatory overshoots, breathing stability will be maintained if excitatory short-term potentiation is the prevailing influence. On the other hand, apnea and hypopnea will occur if inhibitory mechanisms dominate following the ventilatory overshoot. These inhibitory mechanisms include 1) hypocapnia, 2) inhibitory effect from lung stretch, 3) baroreceptor stimulation, 4) upper airway mechanoreceptor reflexes, 5) central depression by hypoxia, and 6) central system inertia. While the respiratory control system functions well during wakefulness, the control of breathing is commonly disrupted during sleep. These changes in respiratory control resulting in breathing instability during sleep are related with the pathophysiologic mechanisms of obstructive and/or central apnea, and have the therapeutic implications for nocturnal hypoventilation in patients with chronic obstructive pulmonary disease or alveolar hypoventilation syndrome.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제8권2호
• /
• pp.252-256
• /
• 2005

저자들은 청색증, 복부 팽만을 주소로 내원한 생후 2일 된 남아에서 Haddad 증후군, 즉 결장 전체의 무신경절증 형태의 Hirschsprung병을 동반한 선천성 중추성 저환기 증후군 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한치과의사협회지
• /
• 제53권4호
• /
• pp.238-248
• /
• 2015

Sleep related breathing disorders(SRBDs) are a group of diseases accompanied by difficulties in respiration and ventilation during sleep. Central sleep apnea, obstructive sleep apnea(OSA), sleep-related hypoventilation, and hypoxemia disorder are included in this disease entity. OSA is known to be the most common SRBDs and studies show its significant correlation with general health problems including hypertension, arrhythmia, diabetes, and metabolic syndrome. The diagnostic process of OSA is composed of physical examinations of the head and neck area and also the oral cavity. Radiologic studies including cephalography, CT, MRI, and fluoroscopy assist in identifying the site of obstruction. However, polysomnography(PSG) is still considered the gold standard for the diagnosis of OSA since it offers both qualitative and quantitative recording of the events during a whole night's sleep. The dentist who is trained in sleep medicine can easily identify patients with the risk of OSA starting from simple questions and screening questionnaires. Diagnosis is the first step to treatment and considering the high rate of under-diagnosis for OSA the dentist may play a substantial role in the diagnosis and treatment of OSA which will eventually lead to the well-being of the patient as a whole person. So the objective of this article is to assist dental professionals in gaining knowledge and insight of the diagnostic measures for OSA including PSG.

• 수면정신생리
• /
• 제14권1호
• /
• pp.49-53
• /
• 2007

사립체근병증은 운동시 근력약화와 같은 경한 증상에서 부터 중추신경계 질환으로 조기 사망에 이르기까지 돌연변이의 정도에 따라서 다양한 증상를 나타내는 질환이다. 그러므로 질환이 의심되는 경우 반드시 조직검사를 고려하여야 한다. 사립체근병증이 있더라도 다른 증상이 없이 무호흡 증후군이나 저환기 증후군의 형태로 처음 진단되는 경우가 드물지만, 사립체근병증이 진단된 후에는 폐기능 검사를 통해 질환의 진행에 대한 예측이 필요하며, 호흡 부전이 발생할 가능성이 높은 경우 비침습적기계환기를 통해 환자를 치료 할 수 있다. 저자들은 초기 중추성 수면 무호흡 증후군으로 오인되었다가 저환기 증후군으로 진단하고, 원인질환으로 사립체근병증을 진단하였으며, 비침습적 기계환기를 통해 성공적으로 치료하여 추적관찰 중인 1례를 경험하였기에 보고하는 바이다.