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

Shimon Eric Jacobs; Laura Tiusaba; Elizaveta Bokova; Tamador Al-Shamaileh; Teresa Lynn Russell; Emily C. Rutan; Harutyun Haroyan; Yong Wang; Christina Feng; Andrea Badillo; Marc A. Levitt

doi:10.1055/s-0042-1758826

European Journal of Pediatric Surgery Reports, Inhaltsverzeichnis

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

Shimon Eric Jacobs

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Laura Tiusaba

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Elizaveta Bokova

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Tamador Al-Shamaileh

²Department of General Surgery, King Hussein Cancer Center, Amman, Jordan

,

Teresa Lynn Russell

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Emily C. Rutan

³Department of Radiology, Children's National Hospital, Washington, District of Columbia, United States

,

Harutyun Haroyan

³Department of Radiology, Children's National Hospital, Washington, District of Columbia, United States

,

Yong Wang

⁴Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China

,

Christina Feng

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Andrea Badillo

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

,

Marc A. Levitt

¹Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United States

› Institutsangaben

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.

Keywords

congenital central hypoventilation syndrome - Hirschsprung disease - neuroblastoma - Haddad syndrome - PHOX2B gene

Volltext

Referenzen

References
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