scholarly journals Haddad Syndrome: A Case of Congenital Central Hypoventilation Syndrome Combined with Hirschsprung Disease

2020 ◽  
Vol 26 (2) ◽  
pp. 72
Author(s):  
So Young Jeong ◽  
Hyun Beak Shin ◽  
Yeon Jun Jeong ◽  
Jin Kyu Kim
Keyword(s):  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Haddad Syndrome

Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

2008 ◽  
Vol 146A (11) ◽  
pp. 1486-1489 ◽  
Author(s):  
Guido Fitze ◽  
Inke R. König ◽  
Ekkehart Paditz ◽  
Alexandre Serra ◽  
Marianne Schläfke ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Compound Effect

Haddad Syndrome: A Case Study

2005 ◽  
Vol 24 (4) ◽  
pp. 41-44 ◽  
Author(s):  
Lisa Shuman ◽  
Diane Youmans
Keyword(s):  
Rare Condition ◽  
Alveolar Ventilation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Newborn Period ◽  
Neural Crest Development ◽  
Common Etiology ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Haddad Syndrome

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.

A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

PEDIATRICS ◽  
2012 ◽  
Vol 130 (5) ◽  
pp. e1382-e1384 ◽  
Author(s):  
K. L. Jones ◽  
E. K. Pivnick ◽  
S. Hines-Dowell ◽  
D. E. Weese-Mayer ◽  
E. M. Berry-Kravis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Triple Threat

scholarly journals Haddad Syndrome: A Case Report in a Filipino Infant

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
April Grace Dion-Berboso ◽  
Maria Melanie Liberty B. Alcausin
Keyword(s):  
Signs And Symptoms ◽  
Male Infant ◽  
Assisted Ventilation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Coding Region ◽  
Phox2b Gene ◽  
Rare Congenital Disorder ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Haddad Syndrome

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.

Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease

2016 ◽  
Vol 36 (4) ◽  
pp. 414-416 ◽  
Author(s):  
Viraj J. Mehta ◽  
Joseph J. Ling ◽  
Elizabeth G. Martinez ◽  
Anvesh C. Reddy ◽  
Sean P. Donahue
Keyword(s):  
Hirschsprung Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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