Adult Hirschsprung’s disease: A case report and literature review

Gamez, Christopher; Boer, Theunis Otte de; Saca, Nidia; Umbu, Landry; Shoukry, Sameh; Mashburn, Penelope; DeVito, Peter

doi:10.1016/j.ijscr.2021.105881

Cited by 6 publications

(10 citation statements)

References 22 publications

(9 reference statements)

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“…Although all patients reported refractory constipation, only 33% and 13.8% reported abdominal pain and nausea/vomiting respectively. It is theorized that disease severity may be the differentiating factor between early vs. late diagnosis, with shorter segments of affected bowel resulting in milder symptomatology [ 1 , 2 ]. The diagnostic challenges of AHD may be further compounded by aperient and enema use, with most patients reporting symptom improvement with such [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

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Chronic constipation and abdominal distension in a patient with adult Hirschprung’s disease and bilateral ovarian teratomas

Vo,

Hayler,

Tyler

et al. 2024

Journal of Surgical Case Reports

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Hirschprung’s disease is a congenital disorder characterized by aganglionic bowel, usually diagnosed in infancy. Here, we present a unique case of Hirschprung’s disease diagnosed in a 29-year-old female with acute on chronic constipation. As part of her work up, a computerized tomography of her abdomen and pelvis revealed large, bilateral dermoid cysts. A diagnostic and therapeutic colonoscopy allowed manual disimpaction and decompression of her bowel, as well as biopsy attainment. Histopathology revealed absence of ganglionic cells on haematoxylin and eosin stain and calretinin immunostaining. This case underscores the diagnostic challenges of Adult Hirschprung’s disease and how this impacts patient quality of life, as well as the work up and management of concurrent causes abdominopelvic conditions.

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Section: Discussionmentioning

confidence: 99%

“…Hirschsprung’s disease is a congenital condition characterized by aganglionosis of the submucosal and myenteric plexus, involving varying degrees of distalmost bowel [ 1 ]. It is the commonest cause of congenital gut motility, affecting approximately 1 in 5000 births.…”

Section: Introductionmentioning

confidence: 99%

Chronic constipation and abdominal distension in a patient with adult Hirschprung’s disease and bilateral ovarian teratomas

Vo,

Hayler,

Tyler

et al. 2024

Journal of Surgical Case Reports

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“…HD affects approximately 1 in 5000 births. Only a few are diagnosed after the age of five years [ 2 ]; of which 600 cases had been diagnosed in adulthood [ 3 - 4 ]. Many authors agree that the "adult Hirschsprung's disease" diagnosis is made for 10 years old and older patients.…”

Section: Discussionmentioning

confidence: 99%

Hirschsprung’s Disease in Adults Revealed by an Occlusive Syndrome

Soussan¹,

Jabi²,

Ouryemchi³

et al. 2021

Cureus

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Hirschsprung's disease (HD) in adults is rare, occurring before the age of five years in 90% of cases. It is characterized by the absence of ganglion cells in a colorectal segment, resulting in functional obstruction and an upstream colonic dilatation.HD should be considered in front of any history of chronic constipation. The diagnosis is based on a combination of clinical, manometric, radiological, and histological findings. Surgery is the basis of the treatment and consists of the resection of the aganglionic segment, followed by restoration of continuity between the two healthy segments.We report here the case of a 20-year-old man who presented to the ER with an occlusive syndrome, which initially required a loop colostomy for decompression. History, clinical presentation, and radiological findings were suggestive of HD, but additional diagnostic methods including manometry and biopsy were employed but proved negative. Given the available data, the patient underwent a colectomy with a lateroterminal ileorectal anastomosis. Histological findings of the surgical specimen confirmed the diagnosis of HD.

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“…With the prevalence of HD being one in every 5,000 births, only a few cases are diagnosed beyond the first few months of life. A majority of these outliers are diagnosed before the age of five, but a rare subset of these is classified as “Adult Hirschsprung’s Disease” with age of onset after 10 years old [ 8 ]. The majority of these patients are diagnosed in their 20s and early 30s.…”

Section: Introductionmentioning

confidence: 99%

A Rare Case of Left Hemicolectomy Masking the Signs and Symptoms of Underlying Hirschsprung’s Disease in an Adult

Kellogg,

Robbins

2023

Cureus

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Hirschsprung’s disease (HD) is a congenital gastrointestinal condition characterized by the lack of ganglion cells within the submucosal and myenteric nervous plexuses in the large intestine. This results in a dysfunctional segment of the large colon, resulting in symptoms such as failure to pass meconium, constipation, and dilated loops of the bowel. The vast majority of patients are diagnosed during the neonatal period, but a handful can be diagnosed later into childhood and adolescence. A rare subset is diagnosed during adulthood, in which the section of the aganglionic colon is minimal yet symptomatic. We report the case of a 54-year-old female presenting with dilated loops of bowel and a remote history of severe constipation, recurrent bowel obstructions, previous left hemicolectomy, and an improvement of symptoms following the procedure. Upon further workup, she was diagnosed with HD, raising the question of whether there should be increased testing for this condition in adults. This case can serve as an example of the need for a more in-depth workup of severe constipation in adults, as the finding for HD in adults is rare but still possible.

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Adult Hirschsprung’s disease: A case report and literature review

Cited by 6 publications

References 22 publications

Chronic constipation and abdominal distension in a patient with adult Hirschprung’s disease and bilateral ovarian teratomas

Chronic constipation and abdominal distension in a patient with adult Hirschprung’s disease and bilateral ovarian teratomas

Hirschsprung’s Disease in Adults Revealed by an Occlusive Syndrome

A Rare Case of Left Hemicolectomy Masking the Signs and Symptoms of Underlying Hirschsprung’s Disease in an Adult

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