A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma
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 hypoventila...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Georg Thieme Verlag KG
2022-01-01
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| Series: | European Journal of Pediatric Surgery Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1758826 |
| _version_ | 1811211226502397952 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Shimon Eric Jacobs |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T05:09:15Z |
| format | Article |
| id | doaj.art-5e7f4c96c41a4b74b29e18f82563c257 |
| institution | Directory Open Access Journal |
| issn | 2194-7619 2194-7627 |
| language | English |
| last_indexed | 2024-04-12T05:09:15Z |
| publishDate | 2022-01-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | European Journal of Pediatric Surgery Reports |
| spelling | doaj.art-5e7f4c96c41a4b74b29e18f82563c2572022-12-22T03:46:48ZengGeorg Thieme Verlag KGEuropean Journal of Pediatric Surgery Reports2194-76192194-76272022-01-011001e156e15910.1055/s-0042-1758826A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and NeuroblastomaShimon Eric Jacobs0Laura Tiusaba1Elizaveta Bokova2Tamador Al-Shamaileh3Teresa Lynn Russell4Emily C. Rutan5Harutyun Haroyan6Yong Wang7Christina Feng8Andrea Badillo9Marc A. Levitt10Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDepartment of General Surgery, King Hussein Cancer Center, Amman, JordanDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDepartment of Radiology, Children's National Hospital, Washington, District of Columbia, United StatesDepartment of Radiology, Children's National Hospital, Washington, District of Columbia, United StatesDepartment of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesDivision of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, United StatesWe 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1758826congenital central hypoventilation syndromehirschsprung diseaseneuroblastomahaddad syndromephox2b gene |
| spellingShingle | 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 A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma European Journal of Pediatric Surgery Reports congenital central hypoventilation syndrome hirschsprung disease neuroblastoma haddad syndrome phox2b gene |
| title | A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma |
| title_full | A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma |
| title_fullStr | A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma |
| title_full_unstemmed | A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma |
| title_short | A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma |
| title_sort | deeper curse a hirschsprung patient s evaluation unmasks a rare association with congenital central hypoventilation syndrome and neuroblastoma |
| topic | congenital central hypoventilation syndrome hirschsprung disease neuroblastoma haddad syndrome phox2b gene |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1758826 |
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