Hirschsprung Disease Associated With Pelvic Neuroblastoma: A Rare Neurocristopathic Association
10.13029/aps.2024.30.1.32
- Author:
Sravanthi VUTUKURU
1
;
Nitin J PETERS
;
Shailesh SOLANKI
;
Amita TREHAN
;
Kirti GUPTA
;
Monika BAWA
Author Information
1. Department of Pediatric Surgery, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
- Publication Type:Case Report
- From:
Advances in Pediatric Surgery
2024;30(1):32-37
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hirschsprung disease (HSCR) is a genetic disorder with an incidence of 1:5000, seen in the pediatric age group. The association between HSCR and neuroblastoma (NBL), ends of the neurocristopathy spectrum is rare. Less than 10 cases of this association are reported in the literature and the association between the Phox gene and Sox10 gene in the pathophysiology of these is being studied. We report a one-year-old baby, who presented to us, with chronic constipation on regular enemas and laxative usage. There was a history of delayed passage of meconium. At the time of Duhamel’s pull through a well-defined, bilobed hard presacral mass, was encountered. Excision and coccygectomy were done and the pull was completed. The histopathology showed a well-differentiated NBL. Fludeoxyglucose positron emission tomography scan and the N-Myc amplification were negative and the patient was managed with expectant treatment. She is doing well over a 3-year follow-up with no recurrence and good resolution of bowel functions.
