• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

• Journal of Genetic Medicine
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• v.11 no.1
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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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• v.5 no.2
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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.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.47-51
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• 2017

Haddad syndrome, the association of Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung's disease (HD), is a disease caused by mutation of PHOX2B gene. This disease, which occurs very rarely worldwide, is characterized by adequate ventilation during wakefulness and hypoventilation during sleep due to decreased ventilatory sensitivity. In this case report, we report a case of dental treatment under general anesthesia in a child with Haddad syndrome. A 3-year-old child with Haddad syndrome visited Seoul National University Dental Hospital for dental treatment. Dental treatment was planned under general anesthesia because of his medical condition. Treatment was successfully done without any postoperative complications. This case suggests that general anesthesia may be advantageous for dental treatment due to the risk of respiratory depression in a child with Haddad syndrome.

• Journal of The Korean Dental Society of Anesthesiology
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• v.13 no.4
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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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• v.8 no.2
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• pp.252-256
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• 2005

The combination of Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, belongs to the family of diseases now designated as Neurocristopathies. We have experienced a case of Haddad syndrome in a male infant who presented with repetitive abdominal distension, bilious vomiting, and sleep apnea. Following colon study and rectal biopsy disclosed the absence of the ganglion cell. And the infant could not be weaned from mechanical ventilation since birth because of the absence of effective, spontaneous respiration during sleep. As he was diagnosed as Haddad syndrome, tracheostomy and ileostomy were performed consecutively. At the age of 4 months, he was relatively healthy but remained ventilator-dependent. We report the first Korean case of Haddad syndrome with a brief review of the related literature.