Haddad Syndrome: A Case Study

2005 ◽  
Vol 24 (4) ◽  
pp. 41-44 ◽  
Author(s):  
Lisa Shuman ◽  
Diane Youmans

Hirschsprung’s disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies.HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
April Grace Dion-Berboso ◽  
Maria Melanie Liberty B. Alcausin

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS) occurs with Hirschsprung’s disease. It is extremely rare with only more than 60 cases reported in the worldwide literature. We report on a Filipino newborn male infant who presented with signs and symptoms of progressive abdominal enlargement, bowel obstruction, and recurrent hypoventilation. The diagnosis of Haddad syndrome was made clinically and confirmed by sequence analysis of the PHOX2B gene which showed a 27repeat heterozygous expansion of the polyalanine-coding region. All CCHS patients require assisted ventilation especially during sleep to prevent lung atelectasis and other complications. An early diagnosis and confirmation by genetic testing is vital for proper management of affected patients.


2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Ha Trang ◽  
Martin Samuels ◽  
Isabella Ceccherini ◽  
Matthias Frerick ◽  
Maria Angeles Garcia-Teresa ◽  
...  

Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. Body This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. Conclusion Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.


PLoS ONE ◽  
2014 ◽  
Vol 9 (9) ◽  
pp. e107850 ◽  
Author(s):  
Mike Sharman ◽  
Cécile Gallea ◽  
Katia Lehongre ◽  
Damien Galanaud ◽  
Nathalie Nicolas ◽  
...  

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