• 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.

• 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.

• 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.

• 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.

• Nutrition Research and Practice
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• v.10 no.4
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• pp.411-417
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• 2016

BACKGROUND/OBJECTIVES: Metabolic syndrome (MetS) is a set of interrelated metabolic risk factors that increase the risk of cardiovascular morbidity and mortality. Studies regarding the specificity and sensitivity of serum levels of leptin and uric acid as predictors of MetS are limited. The aim of this study was to evaluate the serum levels of leptin and uric acid in terms of their specificity and sensitivity as predictors of MetS in the studied Jordanian group. SUBJECTS/METHODS: In this cross sectional study, 630 adult subjects (308 men and 322 women) were recruited from the King Hussein Medical Center (Amman, Jordan). The diagnosis of MetS was made according to the 2005 International Diabetes Federation criteria. Receiver operating characteristic curves were used to determine the efficacy of serum levels of leptin and uric acid as predictors of MetS in the studied Jordanian group. RESULTS: Study results showed that for identification of subjects with MetS risk, area under the curve (AUC) for leptin was 0.721 and 0.683 in men and women, respectively. Serum uric acid levels in men showed no significant association with any MetS risk factors and no significant AUC, while uric acid AUC was 0.706 in women. CONCLUSION: Serum leptin levels can be useful biomarkers for evaluation of the risk of MetS independent of baseline obesity in both men and women. On the other hand, serum uric acid levels predicted the risk of MetS only in women.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.1
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• pp.1-9
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• 2015

Eating behaviour disorder during early childhood is a common pediatric problem. Many terminologies have been used interchangeably to describe this condition, hindering implementation of therapy and confusing a common problem. The definition suggests an eating behaviour which has consequences for family harmony and growth. The recent Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition does not cover the entire spectrum seen by pediatricians. Publications are substantive but level of evidence is most of the time low. This purpose of this review is to clarify terminology of eating behaviour problems during early childhood; including benign picky eating, limited diets, sensory food aversion, selective eating, food avoidance emotional disorder, pervasive refusal syndrome, tactile defensiveness, functional dysphagia, neophobia and toddler anorexia. This tool is proposed only to ease the clinical management for child care providers. Diagnostic criteria are set and management tools are suggested. The role of dietary counselling and, where necessary, behavioural therapy is clarified. It is hoped that the condition will make its way into mainstream pediatrics to allow these children, and their families, to receive the help they deserve.