A triple threat

Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease

Kelly L. Jones, Enikö K. Pivnick, Stacy Hines-Dowell, Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Teresa Santiago, Chukwuma Nnorom, Massroor Pourcyrous

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. Given the systemic nature of DS-related features, it is natural to attribute neonatal complications to the chromosomal aberration. We describe a biracial male infant with DS who had significantly delayed defecation and required continuous ventilator support, but had no primary cardiac or lung disease. Subsequent evaluations confirmed total colonic aganglionosis. Because we were unable to safely extubate the infant, a diagnosis of congenital central hypoventilation syndrome (CCHS) was considered and confirmed by molecular analysis of the PHOX2B gene, revealing a heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). HSCR coexisting with CCHS is known as Haddad syndrome. This is the first reported case with co-occurrence of DS, CCHS, and HSCR.

Original languageEnglish (US)
JournalPediatrics
Volume130
Issue number5
DOIs
StatePublished - Nov 1 2012

Fingerprint

Hirschsprung Disease
Down Syndrome
Defecation
Mechanical Ventilators
Chromosome Aberrations
Intellectual Disability
Lung Diseases
Genes
Congenital central hypoventilation syndrome
Heart Diseases
Mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Jones, K. L., Pivnick, E. K., Hines-Dowell, S., Weese-Mayer, D. E., Berry-Kravis, E. M., Santiago, T., ... Pourcyrous, M. (2012). A triple threat: Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease. Pediatrics, 130(5). https://doi.org/10.1542/peds.2011-3844

A triple threat : Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease. / Jones, Kelly L.; Pivnick, Enikö K.; Hines-Dowell, Stacy; Weese-Mayer, Debra E.; Berry-Kravis, Elizabeth M.; Santiago, Teresa; Nnorom, Chukwuma; Pourcyrous, Massroor.

In: Pediatrics, Vol. 130, No. 5, 01.11.2012.

Research output: Contribution to journalArticle

Jones, KL, Pivnick, EK, Hines-Dowell, S, Weese-Mayer, DE, Berry-Kravis, EM, Santiago, T, Nnorom, C & Pourcyrous, M 2012, 'A triple threat: Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease', Pediatrics, vol. 130, no. 5. https://doi.org/10.1542/peds.2011-3844
Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T et al. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease. Pediatrics. 2012 Nov 1;130(5). https://doi.org/10.1542/peds.2011-3844
Jones, Kelly L. ; Pivnick, Enikö K. ; Hines-Dowell, Stacy ; Weese-Mayer, Debra E. ; Berry-Kravis, Elizabeth M. ; Santiago, Teresa ; Nnorom, Chukwuma ; Pourcyrous, Massroor. / A triple threat : Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease. In: Pediatrics. 2012 ; Vol. 130, No. 5.
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