CC BY 4.0 · European J Pediatr Surg Rep. 2022; 10(01): e156-e159
DOI: 10.1055/s-0042-1758826
Case Report

A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma

1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Laura Tiusaba
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Elizaveta Bokova
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Tamador Al-Shamaileh
2   Department of General Surgery, King Hussein Cancer Center, Amman, Jordan
,
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Emily C. Rutan
3   Department of Radiology, Children's National Hospital, Washington, District of Columbia, United States
,
Harutyun Haroyan
3   Department of Radiology, Children's National Hospital, Washington, District of Columbia, United States
,
Yong Wang
4   Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China
,
Christina Feng
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Andrea Badillo
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
,
Marc A. Levitt
1   Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States
› Author Affiliations

Abstract

We present a rare case of a 2-year-old male patient referred for primary evaluation of constipation and ultimately treatment of Hirschsprung disease (HSCR) whose preoperative workup incidentally revealed a posterior paraspinal mass. Following the biopsy of the mass, the patient exhibited hypoventilation and hypoxia requiring a delayed extubation, raising suspicion for congenital central hypoventilation syndrome (CCHS). We focus on the known history of associations between HSCR and CCHS, in addition to recently found genetic mutations in paired-like homeobox 2B that link HSCR, CCHS, and neuroblastoma.



Publication History

Received: 13 January 2022

Accepted: 04 October 2022

Article published online:
29 November 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
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