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Journal of Child Neurology
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Haddad Syndrome: A Case of an Infant With Central Congenital Hypoventilation Syndrome and Hirschsprung Disease

Daniel Lai, BS

Ohio State University, College of Medicine, Lai.132{at}osu.edu, danklai{at}hotmail.com

Brian Schroer, MD

Ohio State Medical Center, Internal Medicine Columbus, Ohio

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels.

Key Words: Haddad syndrome • central congenital hypoventilation syndrome • Hirschsprung disease

This version was published on March 1, 2008

Journal of Child Neurology, Vol. 23, No. 3, 341-343 (2008)
DOI: 10.1177/0883073807309242
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