• 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 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.

• 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.

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