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AJP Rep 2015; 05(02): e109-e110
DOI: 10.1055/s-0035-1548725
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate

Kenji Hishikawa
1   Division of Neonatology, National Center for Child Health and Development, Tokyo, Japan
,
Hideshi Fujinaga
1   Division of Neonatology, National Center for Child Health and Development, Tokyo, Japan
,
Chie Nagata
2   Division of Education for Clinical Research, National Center for Child Health and Development, Tokyo, Japan
,
Masataka Higuchi
3   Division of Pulmonology, Department of Medical Subspecialties, National Center for Child Health and Development, Tokyo, Japan
,
Yushi Ito
1   Division of Neonatology, National Center for Child Health and Development, Tokyo, Japan
› Author Affiliations
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Publication History

05 November 2014

12 February 2015

Publication Date:
06 April 2015 (online)

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Abstract

Background Holoprosencephaly (HPE) is often accompanied by a deficit in midline facial development; however, congenital oropharyngeal stenosis in neonates with HPE has not been reported before. We describe a case of a neonate with prenatally diagnosed semilobar HPE accompanied by congenital oropharyngeal stenosis.

Case Report The patient was born at 39 weeks of gestation and developed dyspnea shortly after. Laryngoscopic test revealed oropharyngeal stenosis. Nasal continuous positive airway pressure, high-flow nasal cannula, and nasopharyngeal airway did not resolve her dyspnea; tracheostomy was required.

Conclusion Neonates with HPE might be at higher risk of pharyngeal stenosis because of the functional and/or anatomical abnormalities. In the case of dyspnea in neonates with HPE, laryngoscopic evaluation should be considered.

Keywords

holoprosencephaly - oropharyngeal stenosis - congenital pharyngeal stenosis
 

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