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Tayama S, Furuta Y, Morito M, Naoe H, Yoshii D, Uchida Y, Yoshimaru K, Miyamoto Y, Taguchi T, Tanaka Y. Chronic intestinal pseudo-obstruction due to adult-onset acquired isolated hypoganglionosis with muscular atrophy in the small intestine: a case report and review of literature. Clin J Gastroenterol 2024; 17:244-252. [PMID: 38193986 DOI: 10.1007/s12328-023-01902-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/31/2023] [Accepted: 11/28/2023] [Indexed: 01/10/2024]
Abstract
BACKGROUND Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal disorder characterized by impaired propulsion of the digestive tract and associated with symptoms of intestinal obstruction, despite the absence of obstructive lesions. CIPO includes several diseases. However, definitive diagnosis of its etiology is difficult only with symptoms or imaging findings. CASE PRESENTATION A 56-year-old man was referred to our hospital due to a 3-year history of continuous abdominal distention. Imaging, including computed tomography of the abdomen, and endoscopy revealed marked dilatation of the entire small intestine without any obstruction point. Therefore, he was diagnosed with CIPO. Since medical therapy didn't improve his symptoms, enterostomy and percutaneous endoscopic gastro-jejunostomy were performed. These procedures improved abdominal symptoms. However, he required home central venous nutrition due to dehydration. The pathological findings of full-thickness biopsies of the small intestine taken during surgery revealed decreased number and degeneration of ganglion cells in the normal plexus. These findings led to a final diagnosis of CIPO due to acquired isolated hypoganglionosis (AIHG). CONCLUSIONS Here, we report the case of a patient with CIPO secondary to adult-onset AIHG of the small intestine. Since AIHG cannot be solely diagnosed using clinical findings, biopsy is important for its diagnosis.
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Affiliation(s)
- Sayoko Tayama
- Department of Gastroenterology and Hepatology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Yoki Furuta
- Department of Gastroenterology and Hepatology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Miyuki Morito
- Department of Gastroenterology and Hepatology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Hideaki Naoe
- Department of Gastroenterology and Hepatology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Daiki Yoshii
- Department of Diagnostic Pathology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Yasuyuki Uchida
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka-City, Fukuoka, 812-8582, Japan
| | - Koichiro Yoshimaru
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka-City, Fukuoka, 812-8582, Japan
| | - Yuji Miyamoto
- Department of Gastroenterological Surgery, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan
| | - Tomoaki Taguchi
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka-City, Fukuoka, 812-8582, Japan
- Fukuoka College of Health Sciences, 2-15-1 Tamura, Sawara-ku, Fukuoka, 814-0193, Japan
| | - Yasuhito Tanaka
- Department of Gastroenterology and Hepatology, Kumamoto University Hospital, 1-1-1, Honjo, Chuo-ku, Kumamoto-City, Kumamoto, 860-8556, Japan.
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Yoon J, Jung KW, Ham NS, Kim J, Do YS, Kim SO, Choi SH, Kim DW, Hwang SW, Park SH, Yang DH, Ye BD, Byeon JS, Yoon YS, Kim CW, Yu CS, Jung HY, Yang SK, Martin JE, Knowles CH, Myung SJ. Adult-onset megacolon with focal hypoganglionosis: A detailed phenotyping and prospective cohort study. Neurogastroenterol Motil 2023; 35:e14630. [PMID: 37392417 DOI: 10.1111/nmo.14630] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/31/2022] [Revised: 05/15/2023] [Accepted: 06/05/2023] [Indexed: 07/03/2023]
Abstract
BACKGROUND In this prospective cohort study, we evaluated features of "adult-onset megacolon with focal hypoganglionosis." METHODS We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology. KEY RESULTS The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001]. CONCLUSIONS AND INFERENCES Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.
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Affiliation(s)
- Jiyoung Yoon
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
- Department of Gastroenterology, Eulji University School of Medicine, Uijeongbu Eulji Medical Center, Uijeoungbu, Korea
| | - Kee Wook Jung
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Nam Seok Ham
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Jihun Kim
- Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Yoon Suh Do
- Health Screening and Promotion Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Seon Ok Kim
- Department of Clinical Epidemiology and Biostatistics, Asan Medical Center, Seoul, Korea
| | - Sang Hyun Choi
- Department of Radiology and the Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Dong Wook Kim
- Department of Radiology and the Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Sung Wook Hwang
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Sang Hyoung Park
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Dong-Hoon Yang
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Byong Duk Ye
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
- Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Jeong-Sik Byeon
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
- Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Yong Sik Yoon
- Division of Colon and Rectal Surgery, Department of Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Chan Wook Kim
- Division of Colon and Rectal Surgery, Department of Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Chang Sik Yu
- Division of Colon and Rectal Surgery, Department of Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Hwoon-Yong Jung
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Suk-Kyun Yang
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Joanne E Martin
- Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
| | - Charles H Knowles
- Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
| | - Seung-Jae Myung
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
- Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea
- Edis Biotech, Seoul, Korea
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Muacevic A, Adler JR, Aljuhani AM, Fayoumi N, Al-Sawat A. Sigmoid Volvulus as a Clinical Manifestation of Acquired Colonic Hypoganglionosis: A Case Report. Cureus 2023; 15:e33950. [PMID: 36820116 PMCID: PMC9938343 DOI: 10.7759/cureus.33950] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/18/2023] [Indexed: 01/21/2023] Open
Abstract
A reduced and limited number of myenteric ganglia and low acetylcholinesterase activity in the lamina propria characterizes an unusual form of intestinal innervation disorder known as acquired or adult-onset hypoganglionosis. Only a few cases have been observed in adults, while the majority are diagnosed in infancy or youth. We report a rare case of colonic hypoganglionosis that presented as sigmoid volvulus in a 25-year-old female brought in to the ER. She underwent endoscopic decompression but developed a massive sigmoid volvulus with proximal colon dilatation. It was decided to do a total colectomy with an end ileostomy. The diagnosis was confirmed by histopathology, which revealed acquired hypoganglionosis. In order to prevent delayed or emergency presentation and the development of a stoma, the diagnosis of hypoganglionosis must be confirmed with full-thickness biopsies from all affected parts of the large bowel. Hypoganglionosis is rarely present, so young patients with a history of chronic constipation must be treated with a high index of suspicion.
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Jeong Y, Kim Y, Kim W, Park S, Shin SJ, Park EJ. Colonic pseudo-obstruction in a patient with dyssynergic defecation: A case report. Int J Surg Case Rep 2022; 98:107524. [PMID: 35987028 PMCID: PMC9404327 DOI: 10.1016/j.ijscr.2022.107524] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/13/2022] [Revised: 08/12/2022] [Accepted: 08/13/2022] [Indexed: 11/30/2022] Open
Abstract
Introduction and importance: Colonic pseudo-obstruction (CPO) is characterized by massive colonic dilatation of the large intestine without mechanical obstruction. In this study, we report our surgical experience in treating refractory CPO with increased anal sphincter tone, suggested as type IV dyssynergia. Case presentation A 48-year-old man with intellectual disability, depression, heart failure, and end-stage renal disease presented with acute exacerbation of CPO. He had a history of chronic constipation and abdominal distension. Colonic dilatation and defecation difficulty persisted despite medication and repeated colonoscopic decompression. Anal manometry results indicated type IV dyssynergia with increased rectal pressure. Hartmann′s operation was performed to resect the redundant megacolon and to avoid increased anal sphincter pressure during defecation. Hypoganglionosis was observed in the resected colon, which could worsen the chronic process of CPO. Clinical discussion Meticulous evaluation and careful management are required to treat CPO patients because the pathophysiology of CPO has not yet been clearly identified. Proper surgical treatment is needed for patients with refractory CPO. Conclusion CPO requires meticulous evaluation and careful management owing to the risk of bowel perforation. Precise evaluation to identify other factors affecting defecation problems accompanied by CPO is required to make appropriate treatment decisions.
Colonic pseudo-obstruction is defined as massive colonic dilatation of the large intestine without mechanical obstruction. Dyssynergic defecation results from an abnormality for defecations and discordance for contraction of anal sphincter. Surgical resection is considered in patients with refractory colonic pseudo-obstruction and colonic aganglinosis.
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Affiliation(s)
- Yejun Jeong
- Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Yongjae Kim
- Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Wonhyun Kim
- Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Seoyeon Park
- Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Su-Jin Shin
- Department of Pathology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Eun Jung Park
- Division of Colon and Rectal Surgery, Department of Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
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Ma S, Yu Y, Pan A, Gong H, Lou Z, Liu L, Hao L, Meng R, Sui J, Zhang W. The Classification and Surgical Treatments in Adult Hirschsprung's Disease: A Retrospective Study. Front Med (Lausanne) 2022; 9:870342. [PMID: 35463022 PMCID: PMC9024099 DOI: 10.3389/fmed.2022.870342] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2022] [Accepted: 03/14/2022] [Indexed: 12/25/2022] Open
Abstract
PURPOSE To explore the treatments and short-term effects of different types of adult Hirschsprung's disease. METHODS 89 patients treated in Shanghai Changhai Hospital were retrospectively analyzed. According to the patient's medical history, clinical manifestations, auxiliary examination and postoperative pathological results, the patients were divided into adult congenital megacolon, adult idiopathic megacolon, ganglion cell deficiency (types I and II), toxic megacolon and iatrogenic megacolon, The Treatment methods and short-term prognosis of patients in each group were summarized. RESULTS 41 cases of Hirschsprung's disease in adults and low anterior resection or pull-out low anterior resection was performed, and 35 patients with idiopathic Megacolon were treated with one-stage subtotal colon resection under the condition of adequate preoperative preparation. Some patients admitted for emergency intestinal obstruction received conservative treatment first or underwent elective surgery after colonoscopic decompression was improved; two patients with ganglion cell deficiency subtotal colectomy were performed to remove the dilated proximal bowel segment and the narrow distal bowel segment; three patients with toxic Hirschsprung's disease underwent colostomy in mild cases, while subtotal colorectal resection was required in severe cases; Iatrogenic megacolon was diagnosed in eight cases and the optimum operation should be selected according to the specific conditions of patients. CONCLUSION Adult Hirschsprung's diseases were divided into adult congenital hirschsprung's disease, idiopathic Hirschsprung's disease, ganglion cell deficiency, toxic hirschsprung's disease, and iatrogenic Hirschsprung's disease. Different types of surgical treatments for Hirschsprung's disease in adults should be selected according to the specific diagnosis. All patients with adult Hirschsprung's diseases have good short-term outcomes after surgical treatment.
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Affiliation(s)
| | | | | | | | | | | | | | | | - Jinke Sui
- Department of Colorectal Surgery, Changhai Hospital, Shanghai, China
| | - Wei Zhang
- Department of Colorectal Surgery, Changhai Hospital, Shanghai, China
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Constantin A, Achim F, Spinu D, Socea B, Predescu D. Idiopathic Megacolon-Short Review. Diagnostics (Basel) 2021; 11:2112. [PMID: 34829459 PMCID: PMC8622596 DOI: 10.3390/diagnostics11112112] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/29/2021] [Revised: 11/02/2021] [Accepted: 11/08/2021] [Indexed: 12/29/2022] Open
Abstract
INTRODUCTION Idiopathic megacolon (IM) is a rare condition with a more or less known etiology, which involves management challenges, especially therapeutic, and both gastroenterology and surgery services. With insufficiently drawn out protocols, but with occasionally formidable complications, the condition management can be difficult for any general surgery team, either as a failure of drug therapy (in the context of a known case, initially managed by a gastroenterologist) or as a surgical emergency (in which the diagnostic surprise leads additional difficulties to the tactical decision), when the speed imposed by the severity of the case can lead to inadequate strategies, with possibly critical consequences. METHOD With such a motivation, and having available experience limited by the small number of cases (described by all medical teams concerned with this pathology), the revision of the literature with the update of management landmarks from the surgical perspective of the pathology appears as justified by this article. RESULTS If the diagnosis of megacolon is made relatively easily by imaging the colorectal dilation (which is associated with initial and/or consecutive clinical aspects), the establishing of the diagnosis of idiopathic megacolon is based in practice almost exclusively on a principle of exclusion, and after evaluating the absence of some known causes that can lead to the occurrence of these anatomic and clinical changes, mimetically, clinically, and paraclinically, with IM (intramural aganglionosis, distal obstructions, intoxications, etc.). If the etiopathogenic theories, based on an increase in the performance of the arsenal of investigations of the disease, have registered a continuous improvement and an increase of objectivity, unfortunately, the curative surgical treatment options still revolve around the same resection techniques. Moreover, the possibility of developing a form of etiopathogenic treatment seems as remote as ever.
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Affiliation(s)
- Adrian Constantin
- General and Esophageal Clinic, Sf. Maria Clinical Hospital Bucharest, Carol Davila University of Medicine and Pharmacy, 011172 Bucharest, Romania; (A.C.); (F.A.)
| | - Florin Achim
- General and Esophageal Clinic, Sf. Maria Clinical Hospital Bucharest, Carol Davila University of Medicine and Pharmacy, 011172 Bucharest, Romania; (A.C.); (F.A.)
| | - Dan Spinu
- Department of Urology, Central Military Emergency University Hospital Bucharest, Carol Davila University of Medicine and Pharmacy, 010825 Bucharest, Romania;
| | - Bogdan Socea
- Department of Surgery, Sf. Pantelimon Emergency Clinical Hospital Bucharest, Carol Davila University of Medicine and Pharmacy, 021659 Bucharest, Romania;
| | - Dragos Predescu
- General and Esophageal Clinic, Sf. Maria Clinical Hospital Bucharest, Carol Davila University of Medicine and Pharmacy, 011172 Bucharest, Romania; (A.C.); (F.A.)
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Kapur RP, Bellizzi AM, Bond S, Chen H, Han JS, LeGallo RD, Midgen C, Poulin AA, Uddin N, Warren M, Velázquez Vega JE, Zuppan CW. Congenital Myenteric Hypoganglionosis. Am J Surg Pathol 2021; 45:1047-1060. [PMID: 33492848 DOI: 10.1097/pas.0000000000001670] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
Abstract
Congenital myenteric hypoganglionosis is a rare developmental disorder characterized clinically by severe and persistent neonatal intestinal pseudoobstruction. The diagnosis is established by the prevalence of small myenteric ganglia composed of closely spaced ganglion cells with sparse surrounding neuropil. In practice, the diagnosis entails familiarity with the normal appearance of myenteric ganglia in young infants and the ability to confidently recognize significant deviations in ganglion size and morphology. We review clinical, histologic, and immunohistochemical findings from 12 patients with congenital myenteric hypoganglionosis in comparison with similar data from age-matched controls and clearly delineate the diagnostic features of the condition. Practical guidelines are provided to assist surgical pathologists, who are likely to encounter this condition only infrequently. The diagnosis typically requires full-thickness intestinal biopsy as the abnormality is confined to the myenteric plexus in many patients. Immunohistochemistry for Hu C/D may be used to confirm hypoganglionosis. Reduced staining for calretinin and NeuN implicates a selective deficiency of intrinsic primary afferent neurons in this disease.
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Affiliation(s)
- Raj P Kapur
- Departments of Laboratory Medicine and Pathology
- Pediatrics, Seattle Children's and University of Washington, Seattle, WA
| | - Andrew M Bellizzi
- Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA
| | - Steffan Bond
- Department of Pathology, Providence Alaska Medical Center, Anchorage, AK
| | - Haiying Chen
- Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON
| | - Jeong S Han
- Department of Pathology, Kaiser Oakland Medical Center, Oakland
| | - Robin D LeGallo
- Department of Pathology, University of Virginia, Charlottesville, VA
| | - Craig Midgen
- Department of Pathology and Laboratory Medicine, IWK Health Centre and Dalhousie University, Halifax, NS
| | - Alysa A Poulin
- Department of Pathology and Laboratory Medicine, University of Saskatchewan, Saskatoon, SK, Canada
| | - Naseem Uddin
- Department of Pathology, UT Southwestern Medical Center and Children's Health, Dallas, TX
| | - Mikako Warren
- Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles
| | - José E Velázquez Vega
- Department of Pathology and Laboratory Medicine Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA
| | - Craig W Zuppan
- Departments of Pathology and Pediatrics, Loma Linda University and Children's Hospital, Loma Linda, CA
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Kim BS, Park SY, Kim DH, Kim NI, Yoon JH, Ju JK, Park CH, Kim HS, Choi SK. Cytomegalovirus colitis induced segmental colonic hypoganglionosis in an immunocompetent patient: A case report. World J Clin Cases 2021; 9:5631-5636. [PMID: 34307618 PMCID: PMC8281438 DOI: 10.12998/wjcc.v9.i20.5631] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/18/2021] [Revised: 05/02/2021] [Accepted: 06/01/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Cytomegalovirus (CMV) colitis is usually seen in immunocompromised patients with risk factors such as human immunodeficiency virus infection, solid organ transplant, inflammatory bowel disease, or malignancy. Therefore, many clinicians usually do not consider the possibility of CMV colitis in immunocompetent patients. We reported a rare case of segmental colonic hypoganglionosis associated with CMV colitis in an immunocompetent patient. CASE SUMMARY A 48-year-old woman with no underlying disease was admitted to our hospital for severe abdominal pain and constipation. Computed tomography of the abdomen showed diffuse dilatation of the small intestine and the entire colon. Initial sigmoidoscopic findings and result of polymerase chain reaction (PCR) for CMV revealed the compatible findings of CMV colitis, the patient was treated with intravenous ganciclovir. After treatment, sigmoidoscopic findings and CMV PCR results improved. However the patient continued to suffered from constipation. Eight months after the initial admission, patient visited the emergency department with severe abdominal pain and imaging revealed aggravation of fecal impaction and bowel dilatation. We performed subtotal colectomy to control patient's symptom. Histological examination of the resected specimen showed significantly reduced number of mature ganglion cells in the sigmoid colon compared to that in the proximal colon. CONCLUSION Our case demonstrates that CMV colitis can develop even in patients with no other underlying disease, and that CMV colitis can be one of the causes for developing colonic hypoganglionosis.
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Affiliation(s)
- Ban Seok Kim
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Seon-Young Park
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Dong Hyun Kim
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Nah Ihm Kim
- Department of Pathology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Jae Hyun Yoon
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Jae Kyun Ju
- Department of Surgery, Chonnam University Hospital, Gwangju 501-757, South Korea
| | - Chang Hwan Park
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Hyun Soo Kim
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
| | - Sung Kyu Choi
- Department of Gastroenterology, Chonnam National University Hospital, Gwangju 501-757, South Korea
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Lee A, Suhardja TS, Simpson I, Lim JTH. Rare case of adult intestinal hypoganglionosis and review of the literature. Clin J Gastroenterol 2021; 14:599-607. [PMID: 33502729 DOI: 10.1007/s12328-021-01342-5] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/21/2020] [Accepted: 01/08/2021] [Indexed: 11/28/2022]
Abstract
Intestinal hypoganglionosis is a rare condition in adults. We report a case of intestinal hypoganglionosis in the mid-distal transverse colon to splenic flexure in a 65-year-old female patient presenting with altered bowel habit and abdominal distension, and reviewed the current literature on this topic. Our patient had a medical history of neurofibromatosis type 1. A preoperative computed tomography (CT) scan demonstrated a grossly dilated transverse colon without obstruction. A laparotomy for subtotal colectomy was performed, with histopathology demonstrating intestinal hypoganglionosis.
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Affiliation(s)
- Alice Lee
- Colorectal Surgery Unit, Dandenong Hospital, Monash Health, 135 David Street, Dandenong, VIC, Australia
| | - Thomas Surya Suhardja
- Colorectal Surgery Unit, Dandenong Hospital, Monash Health, 135 David Street, Dandenong, VIC, Australia. .,Department of Surgery, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
| | - Ian Simpson
- Department of Anatomical Pathology, Monash Medical Centre, Monash Health, Clayton, VIC, Australia
| | - James Tow-Hing Lim
- Colorectal Surgery Unit, Dandenong Hospital, Monash Health, 135 David Street, Dandenong, VIC, Australia
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Abstract
RATIONALE Intestinal hypoganglionosis most commonly presents in infancy or childhood, with only a few cases reported in adults. Those are mainly diagnosed after elective surgery for long-standing constipation and megacolon. PATIENT CONCERNS We report a case of a 48-year-old female from China who presented with symptoms of discontinuation of bowel movements for 2 months. A hard, round mass could be felt in her right lower abdomen. DIAGNOSIS The following examination methods diagnosed acquired segmental sigmoid hypoganglionosis. An abdominal computed tomography revealed a dilatation of the colon and suspicious wall thickening of the sigmoid colon. Anorectal manometry revealed relaxation of the anal sphincter. Histological examination revealed lower numbers and the degeneration of ganglion cells. INTERVENTIONS Sigmoidectomy and transverse colostomy. OUTCOMES The patient recovered well from surgery. Three months after the surgery, barium enema revealed a recovery in colorectal dilatation. LESSONS This case could help raise awareness of acquired segmental hypoganglionosis. Resection of TZ and enterostomy presents an effective remission strategy for patients at risk of anastomotic leakage due to poor intestinal conditions.
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Affiliation(s)
- Zhi-Ping Pan
- The Second Clinical Medical College, Zhejiang Chinese Medical University
| | - Lu-Qiao Huang
- Department of Anorectal Surgery, Tongde Hospital of Zhejiang Province, Hangzhou, China
| | - Jun-Hui Cui
- Department of Anorectal Surgery, Tongde Hospital of Zhejiang Province, Hangzhou, China
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Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Ohto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K. A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. Am J Med Genet A 2019; 176:1195-1199. [PMID: 29681101 DOI: 10.1002/ajmg.a.38657] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2017] [Revised: 01/03/2018] [Accepted: 02/07/2018] [Indexed: 12/28/2022]
Abstract
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination. The p.Ser282GlnfsTer12 mutation presumably escapes from nonsense-mediated decay and may generate a dominant-negative effect. We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations.
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Affiliation(s)
- Yuko Akutsu
- Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Kentaro Shirai
- Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Akira Takei
- Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.,Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Yudai Goto
- Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.,Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan
| | - Tomohiro Aoyama
- Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.,Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan
| | - Akimitu Watanabe
- Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Masatoshi Imamura
- Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Takashi Enokizono
- Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, Japan
| | - Tatsuyuki Ohto
- Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, Japan
| | - Tetsuo Hori
- Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Keiko Suzuki
- Department of Pathology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan
| | - Masaharu Hayashi
- College of Nursing and Nutrition, University of Shukutoku, Chiba, Chiba, Japan
| | - Kouji Masumoto
- Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan
| | - Ken Inoue
- Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
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12
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13
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Kwok AMF, Still AB, Hart K. Acquired segmental colonic hypoganglionosis in an adult Caucasian male: A case report. World J Gastrointest Surg 2019; 11:101-111. [PMID: 30842816 PMCID: PMC6397794 DOI: 10.4240/wjgs.v11.i2.101] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/16/2019] [Revised: 02/01/2019] [Accepted: 02/22/2019] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described (Type I and Type II). The adult-onset form (acquired hypoganglionosis) is extremely uncommon and is thought to arise due to cellular remodelling as a result of chronic inflammation. It differs from Hirschprung’s disease in that there is a reduction in ganglion cells in the colonic neural plexuses as opposed to being completely absent.
CASE SUMMARY A 31 year-old male presented to hospital with recurrent abdominal pain and vomiting over thirteen months. Abdominal computed tomography scans demonstrated thickening and stranding affecting the transverse, descending and sigmoid colon. Endoscopic appearances were non-specific but confirmed a mixed picture of mucosal inflammation and necrosis in various stages of healing. Numerous investigations were performed to elucidate an underlying aetiology but neither an infective nor ischaemic cause could be proven. Biopsy features were not typical of inflammatory bowel disease. Due to persistence of his symptoms and failure of medical management, a segmental colectomy was performed. Histological examination of the specimen revealed an unexpected finding of segmental hypoganglionosis. Complete surgical excision of the diseased segment of colon was curative and since his operation the patient has had no recurrence of symptoms requiring hospitalisation.
CONCLUSION Our case serves to raise awareness of acquired hypoganglionosis as a rare condition that can result from chronic colitis.
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Affiliation(s)
- Allan MF Kwok
- Department of Surgery, Wollongong Hospital, Wollongong NSW 2500, Australia
| | - Andrew B Still
- Department of Surgery, Wollongong Hospital, Wollongong NSW 2500, Australia
| | - Kimberly Hart
- Department of Anatomical Pathology, Wollongong Hospital, Wollongong NSW 2500, Australia
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14
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Song EM, Kim JW, Lee SH, Chang K, Hwang SW, Park SH, Yang DH, Jung KW, Ye BD, Byeon JS, Yang SK, Lee HJ, Yu CS, Kim CW, Park SH, Kim J, Myung SJ. Colonic Pseudo-obstruction With Transition Zone: A Peculiar Eastern Severe Dysmotility. J Neurogastroenterol Motil 2019; 25:137-147. [PMID: 30646485 PMCID: PMC6326194 DOI: 10.5056/jnm18121] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/10/2018] [Revised: 09/19/2018] [Accepted: 09/28/2018] [Indexed: 12/13/2022] Open
Abstract
Background/Aims Previous studies from Korea have described chronic intestinal pseudo-obstruction (CIPO) patients with transition zone (TZ) in the colon. In this study, we evaluated the pathological characteristics and their association with long-term outcomes in Korean colonic pseudo-obstruction (CPO) patients with TZ. Methods We enrolled 39 CPO patients who were refractory to medical treatment and underwent colectomy between November 1989 and April 2016 (median age at symptoms onset: 45 [interquartile range, 29–57] years, males 46.2%). The TZ was defined as a colonic segment connecting a proximally dilated and distally non-dilated segment. Detailed pathologic analysis was performed. Results Among the 39 patients, 37 (94.9%) presented with TZ and 2 (5.1%) showed no definitive TZ. Median ganglion cell density in the TZ adjusted for the colonic circumference was significantly decreased compared to that in proximal dilated and distal non-dilated segments in TZ (+) patients (9.2 vs 254.3 and 150.5, P < 0.001). Among the TZ (+) patients, 6 showed additional pathologic findings including eosinophilic ganglionitis (n = 2), ulcers with combined cytomegalovirus infection (n = 2), diffuse ischemic changes (n = 1), and heterotropic myenteric plexus (n = 1). During follow-up (median, 61 months), 32 (82.1%) TZ (+) patients recovered without symptom recurrence after surgery. The presence of pathological features other than hypoganglionosis was an independent predictor of symptom recurrence after surgery (P = 0.046). Conclusions Hypoganglionosis can be identified in the TZ of most Korean CPO patients. Detection of other pathological features in addition to TZ-associated hypoganglionosis was associated with poor post-operative outcomes.
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Affiliation(s)
- Eun Mi Song
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Jong Wook Kim
- Department of Internal Medicine, Inje University Ilsan Paik Hospital, Goyang, Gyeonggi-do, Korea
| | - Sun-Ho Lee
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Kiju Chang
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Sung Wook Hwang
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Sang Hyoung Park
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Dong-Hoon Yang
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Kee Wook Jung
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Byong Duk Ye
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Jeong-Sik Byeon
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Suk-Kyun Yang
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Hyo Jeong Lee
- Health Screening and Promotion Center, Asan Medical Center, Seoul, Korea
| | - Chang Sik Yu
- Departments of Colon and Rectal Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Chan Wook Kim
- Departments of Colon and Rectal Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Seong Ho Park
- Departments of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Jihun Kim
- Departments of Pathology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Seung-Jae Myung
- Departments of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
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15
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Aldossary MY, Privitera A, Elzamzami O, Alturki N, Sabr K. A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. AMERICAN JOURNAL OF CASE REPORTS 2018; 19:557-561. [PMID: 29755106 PMCID: PMC5983074 DOI: 10.12659/ajcr.907109] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
Abstract
Patient: Male, 20 Final Diagnosis: Rectosigmoid hypoganglionosis Symptoms: Severe abdominal pain • obstipation • vomiting • shortness of breath • palpitations Medication: — Clinical Procedure: Hartmann’s procedure Specialty: Surgery
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Affiliation(s)
- Mohammed Yousef Aldossary
- Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia
| | - Antonio Privitera
- Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia
| | - Obai Elzamzami
- Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia
| | - Nemat Alturki
- Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia
| | - Khalid Sabr
- Department of General Surgery, Colorectal Surgery Section, King Fahad Specialist Hospital, Dammam, Saudi Arabia
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16
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Durnin L, Lees A, Manzoor S, Sasse KC, Sanders KM, Mutafova-Yambolieva VN. Loss of nitric oxide-mediated inhibition of purine neurotransmitter release in the colon in the absence of interstitial cells of Cajal. Am J Physiol Gastrointest Liver Physiol 2017; 313:G419-G433. [PMID: 28705804 PMCID: PMC5792210 DOI: 10.1152/ajpgi.00045.2017] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/01/2017] [Revised: 06/26/2017] [Accepted: 07/11/2017] [Indexed: 01/31/2023]
Abstract
Regulation of colonic motility depends on the integrity of enteric inhibitory neurotransmission mediated by nitric oxide (NO), purine neurotransmitters, and neuropeptides. Intramuscular interstitial cells of Cajal (ICC-IM) and platelet-derived growth factor receptor-α-positive (PDGFRα+) cells are involved in generating responses to NO and purine neurotransmitters, respectively. Previous studies have suggested a decreased nitrergic and increased purinergic neurotransmission in KitW/KitW-v (W/Wv ) mice that display lesions in ICC-IM along the gastrointestinal tract. However, contributions of NO to these phenotypes have not been evaluated. We used small-chamber superfusion assays and HPLC to measure the spontaneous and electrical field stimulation (EFS)-evoked release of nicotinamide adenine dinucleotide (NAD+)/ADP-ribose, uridine adenosine tetraphosphate (Up4A), adenosine 5'-triphosphate (ATP), and metabolites from the tunica muscularis of human, monkey, and murine colons and circular muscle of monkey colon, and we tested drugs that modulate NO levels or blocked NO receptors. NO inhibited EFS-evoked release of purines in the colon via presynaptic neuromodulation. Colons from W/Wv, Nos1-/- , and Prkg1-/- mice displayed augmented neural release of purines that was likely due to altered nitrergic neuromodulation. Colons from W/Wv mice demonstrated decreased nitrergic and increased purinergic relaxations in response to nerve stimulation. W/Wv mouse colons demonstrated reduced Nos1 expression and reduced NO release. Our results suggest that enhanced purinergic neurotransmission may compensate for the loss of nitrergic neurotransmission in muscles with partial loss of ICC. The interactions between nitrergic and purinergic neurotransmission in the colon provide novel insight into the role of neurotransmitters and effector cells in the neural regulation of gastrointestinal motility.NEW & NOTEWORTHY This is the first study investigating the role of nitric oxide (NO) and intramuscular interstitial cells of Cajal (ICC-IM) in modulating neural release of purines in colon. We found that NO inhibited release of purines in human, monkey, and murine colons and that colons from KitW/KitW-v (W/Wv ) mice, which present with partial loss of ICC-IM, demonstrated augmented neural release of purines. Interactions between nitrergic and purinergic neurotransmission may affect motility in disease conditions with ICC-IM deficiencies.
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Affiliation(s)
- Leonie Durnin
- 1Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada; and
| | - Andrea Lees
- 1Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada; and
| | - Sheerien Manzoor
- 1Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada; and
| | | | - Kenton M. Sanders
- 1Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada; and
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17
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Subramanian H, Badhe BA, Toi PC, Sambandan K. Morphometric profile of large intestinal neuronal plexuses in normal perinatal autopsies and Hirschsprung disease. Neurogastroenterol Motil 2017; 29. [PMID: 27620161 DOI: 10.1111/nmo.12939] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/27/2016] [Accepted: 08/08/2016] [Indexed: 02/08/2023]
Abstract
OBJECTIVES To derive objective values for the diagnosis of Hirschsprung disease (HSCR) from a comparison of the morphometric profile of large intestinal neuronal plexuses in normal perinatal autopsies and surgical specimens of HSCR. METHODS A cross-sectional comparative study with 40 subjects each in (i) non-HSCR perinatal group encompassing neonates and stillborn babies beyond 30 weeks of gestation on whom autopsies were conducted and (ii) HSCR group comprising all patients clinicoradiologically diagnosed as HSCR. The morphometric assessment was done on hematoxylin-and-eosin-stained sections. KEY RESULTS The morphometric profile in terms of average number of ganglia/linear mm of colon, interganglion distance, number of ganglion cells/ganglion, average ganglion cell length, ganglion cell nuclear area, ganglion cell nuclear diameter, nerve trunk thickness, and density has been outlined. On comparison with the neuroanatomically normal zone of HSCR, the cut-offs to identify hypertrophic nerve trunks (nerve trunk thickness of >37.85 μm) and reduced number of ganglia (number of ganglia/linear mm of colon <2.05 and interganglion distance of >229 μm) were derived. CONCLUSIONS & INFERENCES The determined objective values, after testing on diagnostic rectal biopsies, may serve to formulate a diagnostic algorithm along with immunostaining for diagnosis of HSCR in colorectal specimens.
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Affiliation(s)
- H Subramanian
- Department of Pathology (Histopathology section), Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India
| | - B A Badhe
- Department of Pathology (Histopathology section), Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India
| | - P C Toi
- Department of Pathology (Histopathology section), Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India
| | - K Sambandan
- Department of Paediatric Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India
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18
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Moore SW. Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease). Pediatr Surg Int 2017; 33:285-298. [PMID: 27988850 DOI: 10.1007/s00383-016-4038-3] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/05/2016] [Indexed: 12/11/2022]
Abstract
Hirschsprung disease (HSCR) is a fairly well understood congenital, genetically based functional obstruction due to the congenital absence of ganglion cells in the distal bowel. However, although over 90% of Hirschsprung cases conform to the normally accepted histological diagnostic criteria, it has become increasingly clear that in addition to HSCR, there is a group of functional disturbances relating to a number of other congenital neurodysplastic conditions causing some degree of gastrointestinal tract malfunction. Although these represent a variety of possibly separate conditions of the enteric nervous system, this spectrum it would appear to be also influenced by similar developmental processes. The term "variant Hirschsprung" is commonly used to describe these conditions, but ganglion cells are mostly present if abnormal in number and distribution. These conditions are a problem group being amongst the most difficult to diagnose and treat with possible practical and legal consequences. The problem appears to be possibly one of definition which has proven difficult in the relative paucity of normal values, especially when correlated to age and gestation. It is the purpose of this paper to review the current position on these conditions and to explore possible shared common pathogenetic and genetic mechanisms. This article explores those conditions where a similar pathogenetic mechanisms to HSCR can be demonstrated (e.g. hypoganglionosis) as well as other neural features, which appear to represent separate conditions possibly linked to certain syndromes.
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Affiliation(s)
- S W Moore
- Division of Paediatric Surgery, Faculty of Medicine, University of Stellenbosch, P.O. Box 19063, Tygerberg, 7505, South Africa.
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19
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Sergi CM, Caluseriu O, McColl H, Eisenstat DD. Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives. Pediatr Res 2017; 81:177-191. [PMID: 27682968 DOI: 10.1038/pr.2016.202] [Citation(s) in RCA: 46] [Impact Index Per Article: 5.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/24/2016] [Accepted: 09/05/2016] [Indexed: 01/17/2023]
Abstract
On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract. This review focuses on current understanding of genes and pathways associated with HSCR and summarizes recent knowledge related to micro RNAs (miRNAs) and HSCR pathogenesis. While commonly sporadic, Mendelian patterns of inheritance have been described in syndromic cases with HSCR. Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules with common functions may be associated with HSCR in different populations. This comprehensive profile of functional gene modules may serve as a useful resource for future developmental, biochemical, and genetic studies providing insights into the complex nature of HSCR.
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Affiliation(s)
- Consolato Maria Sergi
- Department of Orthopedics, Wuhan University of Science and Technology, Hubei, P.R. China
- Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada
- Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
| | - Oana Caluseriu
- Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
- Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
| | - Hunter McColl
- Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
| | - David D Eisenstat
- Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
- Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
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20
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Gabbani T, Marsico M, Marocchi M, Biagini MR. Isolated hypoganglionosis in young man with autism. Dig Liver Dis 2017; 49:104. [PMID: 28029603 DOI: 10.1016/j.dld.2016.10.002] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/12/2016] [Revised: 09/23/2016] [Accepted: 10/05/2016] [Indexed: 12/11/2022]
Affiliation(s)
- T Gabbani
- Oncology Department, Clinical Gastroenterology, AOU Careggi, Florence University Hospital, Florence, Italy.
| | - M Marsico
- Gastroenterology and Digestive Endoscopy Unit, Bellaria-Maggiore Hospital, AUSL, Bologna, Italy
| | - M Marocchi
- Division of Gastroenterology, AOU Modena University Hospital, Modena, Italy
| | - M R Biagini
- Oncology Department, Clinical Gastroenterology, AOU Careggi, Florence University Hospital, Florence, Italy
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21
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Wei ZJ, Huang L, Xu AM. Reoperation in an adult female with "right-sided" Hirschsprung's disease complicated by refractory hypertension and cough. World J Gastroenterol 2016; 22:9235-9241. [PMID: 27895411 PMCID: PMC5107605 DOI: 10.3748/wjg.v22.i41.9235] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/27/2016] [Revised: 08/17/2016] [Accepted: 09/06/2016] [Indexed: 02/06/2023] Open
Abstract
Hirschsprung's disease (HD) is an intestinal malformation caused by the innate absence of ganglion cells in the neural plexus of the colorectal wall, and is most common in male infants. It is rare in adult, and is usually left-sided. Herein we reported based on the CARE guidelines a case of a 47-year-old adult female suffering from "right-sided" HD complicated by refractory hypertension and cough. The patient with a history of cesarean section and with digestive unfitness (abdominal pain, distention, and constipation) only since 20 years old had recurrence of HD after initial surgery due to the incomplete removal of the HD-affected bowel based on a diagnosis of "chronic ileus", leading to the relapse of the digestive symptoms and the emergence of some intractable circulatory and respiratory complications which could be hardly controlled by conservative treatment. During the long interval before coming to our department for help, she had been re-hospitalized for several times with various misdiagnoses and supplied merely with symptomatic treatment which could only achieve temporary symptomatic relief. At her admission to our department, the imaging examinations strongly indicated recurrent HD which was further supported by pathological examinations, and right hemi-colectomy was performed to remove the remnant aganglionic intestinal segment. Intraoperative and postoperative pathology supported the completeness of the definitive resection. Post-operation, the patient's bowel motility significantly improved, and interestingly, the complications disappeared. For adult patients with long-term constipation combined with cough and hypertension, rare diseases like HD which requires definite surgery and which could be "right-sided" should not be overlooked. It is vital to diagnose and cure HD patients in childhood. Through the comparison of the two surgeries, it is noteworthy that for diagnosed HD, sufficient removal of the non-functional intestine confirmed by intraoperative pathology is essential.
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Rossi V, Mosconi M, Nozza P, Murgia D, Mattioli G, Ceccherini I, Pini Prato A. Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. Am J Med Genet A 2016; 170:2400-3. [PMID: 27273837 DOI: 10.1002/ajmg.a.37787] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2015] [Accepted: 05/21/2016] [Indexed: 11/11/2022]
Abstract
Chronic intestinal pseudo obstruction (CIPO) is a rare clinical entity characterized by symptoms and signs of intestinal obstruction without either recognizable anatomical abnormalities or intestinal aganglionosis. A Chinese female infant presented to our institution with a clinical diagnosis of CIPO. Aganglionosis was ruled out by full thickness colonic and ileal biopsies and by rectal suction biopsies. Unexpectedly, direct sequencing and PCR amplification of RET proto-oncogene from peripheral blood extracted DNA identified a RET R114H mutation. This mutation has already been reported as strongly associated with Asian patients affected by Hirschsprung's disease (HSCR) and is considered a founder mutation in Asia. The same mutation has never been reported in patients with CIPO, so far. These findings support the role of RET in the development of the enteric nervous system but underline the importance of other genetic or environmental factors contributing to the gastrointestinal phenotype of the disease. Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility. © 2016 Wiley Periodicals, Inc.
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Affiliation(s)
- Valentina Rossi
- Istituto Giannina Gaslini, Genoa, Italy.,DINOGMI, University of Genoa, Genoa, Italy
| | | | | | | | - Girolamo Mattioli
- Istituto Giannina Gaslini, Genoa, Italy.,DINOGMI, University of Genoa, Genoa, Italy
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23
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Do YS, Myung SJ, Kwak SY, Cho S, Lee E, Song MJ, Yu CS, Yoon YS, Lee HK. Molecular and Cellular Characteristics of the Colonic Pseudo-obstruction in Patients With Intractable Constipation. J Neurogastroenterol Motil 2015; 21:560-570. [PMID: 26424041 PMCID: PMC4622139 DOI: 10.5056/jnm15048] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/18/2015] [Revised: 06/11/2015] [Accepted: 07/06/2015] [Indexed: 12/13/2022] Open
Abstract
BACKGROUND/AIMS Chronic intestinal pseudo-obstruction (CIPO) is a disorder characterized by recurrent symptoms suggestive of obstruction such as abdominal pain, proximal distension with extremely suppressed motility in the absence of lumen-occluding lesion, whose etiology/ pathophysiology is poorly understood. In this study we investigated a functionally obstructive lesion that could underlie symptoms of CIPO. METHODS We studied colons surgically removed from 13 patients exhibiting clinical/pathological features of pseudo-obstruction but were unresponsive to standard medical treatments. The colons were characterized morphologically, functionally and molecularly, which were compared between regions and to 28 region-matched controls obtained from colon cancer patients. RESULTS The colons with pseudo-obstruction exhibited persistent luminal distension proximally, where the smooth muscle was hypertrophied with changes in the cell phenotypes. Distinct luminal narrowing was observed near the distal end of the dilated region, close to the splenic flexure, previously referred to as the "transition zone (TZ)" between the dilated and non-dilated loops. Circular muscles from the TZ responded less to depolarization and cholinergic stimulation, which was associated with downregulation of L-type calcium channel expression. Smooth muscle contractile protein was also downregulated. Myenteric ganglia and neuronal nitric oxide synthase (nNOS) positive cells were deficient, more severely in the TZ region. Interstitial cells of Cajal was relatively less affected. CONCLUSIONS The TZ may be the principal site of functional obstruction, leading to proximal distension and smooth muscle hypertrophy, in which partial nNOS depletion could play a key role. The neuromuscular abnormalities probably synergistically contributed to the extremely suppressed motility observed in the colonic pseudo-obstruction.
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Affiliation(s)
- Yoon Suh Do
- Department of Gastroenterology, Asan Digestive Disease Research Institute, Asan Medical Center, Seoul,
Korea
| | - Seung-Jae Myung
- Department of Gastroenterology, Asan Digestive Disease Research Institute, Asan Medical Center, Seoul,
Korea
| | - Sun-Young Kwak
- Department of Pharmacology, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Soohan Cho
- Department of Pharmacology, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Enoch Lee
- Department of Pharmacology, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Min Jeong Song
- Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Chang Sik Yu
- Colon and Rectal Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Yong Sik Yoon
- Colon and Rectal Surgery, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
| | - Hye Kyung Lee
- Department of Pharmacology, University of Ulsan College of Medicine, Asan Medical Center, Seoul,
Korea
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Pseudo-Hirschsprung’s disease with rectal hypoganglionosis: An autopsied case of circulatory failure due to severe constipation. Leg Med (Tokyo) 2015; 17:177-9. [DOI: 10.1016/j.legalmed.2014.11.005] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2014] [Revised: 11/04/2014] [Accepted: 11/05/2014] [Indexed: 02/07/2023]
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Lee KJ, Jung KW, Myung SJ, Kim HJ, Kim NY, Yoon YH, Sohn CI, Shin JE, Cho YK, Hong SJ, Lee TH, Park KS, Jung HK, Choi CH, Kim GH, Kim JH, Jo YJ, Lee JS, Park HJ. The clinical characteristics of colonic pseudo-obstruction and the factors associated with medical treatment response: a study based on a multicenter database in Korea. J Korean Med Sci 2014; 29:699-703. [PMID: 24851028 PMCID: PMC4024943 DOI: 10.3346/jkms.2014.29.5.699] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/10/2013] [Accepted: 02/26/2014] [Indexed: 12/12/2022] Open
Abstract
Colonic pseudo-obstruction (CPO) is defined as marked colonic distension in the absence of mechanical obstruction. We aimed to investigate the clinical characteristics of CPO and the factors associated with the response to medical treatment by using a multicenter database in Korea. CPO was diagnosed as colonic dilatation without mechanical obstruction by using radiologic and/or endoscopic examinations. Acute CPO occurring in the postoperative period in surgical patients or as a response to an acute illness was excluded. CPO cases were identified in 15 tertiary referral hospitals between 2000 and 2011. The patients' data were retrospectively reviewed and analyzed. In total, 104 patients (53 men; mean age at diagnosis, 47 yr) were identified. Seventy-seven of 104 patients (74%) showed a transition zone on abdominal computed tomography. Sixty of 104 patients (58%) showed poor responses to medical treatment and underwent surgery at the mean follow-up of 7.4 months (0.5-61 months). Younger age at the time of diagnosis, abdominal distension as a chief complaint, and greater cecal diameter were independently associated with the poor responses to medical treatment. These may be risk factors for a poor response to medical treatment.
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Affiliation(s)
- Kwang Jae Lee
- Department of Gastroenterology, Ajou University School of Medicine, Suwon, Korea
| | - Kee Wook Jung
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Seung-Jae Myung
- Department of Gastroenterology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
| | - Hyun Jin Kim
- Department of Gastroenterology, Gyeongsang National University School of Medicine, Jinju, Korea
| | - Na Young Kim
- Department of Gastroenterology, Seoul National University Bundang Hospital, Seongnam, Korea
| | - Young Hoon Yoon
- Department of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea
| | - Chong Il Sohn
- Department of Gastroenterology, Sungkyunkwan University School of Medicine, Kangbuk Samsung Hospital, Seoul, Korea
| | - Jung Eun Shin
- Department of Gastroenterology, Dankook University College of Medicine, Cheonan, Korea
| | - Yu Kyung Cho
- Department of Gastroenterology, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Soo Jin Hong
- Department of Gastroenterology, Soonchunhyang University Hospital, Seoul, Korea
| | - Tae Hee Lee
- Department of Gastroenterology, Soonchunhyang University Hospital, Seoul, Korea
| | - Kyung Sik Park
- Department of Gastroenterology, Keimyung University School of Medicine, Daegu, Korea
| | - Hye-Kyung Jung
- Department of Gastroenterology, Ewha Womans University School of Medicine, Seoul, Korea
| | - Chang Hwan Choi
- Department of Gastroenterology, Chung-Ang University College of Medicine, Seoul, Korea
| | - Gwang Ha Kim
- Department of Gastroenterology, Pusan National University School of Medicine, Busan, Korea
| | - Jae Hak Kim
- Department of Gastroenterology, Dongguk University Ilsan Hospital, Goyang, Korea
| | - Yoon Ju Jo
- Department of Gastroenterology, Eulji University School of Medicine, Seoul, Korea
| | - Joon Seong Lee
- Department of Gastroenterology, Soonchunhyang University Hospital, Seoul, Korea
| | - Hyo-Jin Park
- Department of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea
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Kim JS, Lee BI, Kim BW, Choi H, Lee YS, Maeng L. Repetitive Colonoscopic Decompression as a Bridge Therapy before Surgery in a Pregnant Patient with Chronic Intestinal Pseudo-Obstruction. Clin Endosc 2013; 46:591-594. [PMID: 24143328 PMCID: PMC3797951 DOI: 10.5946/ce.2013.46.5.591] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2012] [Revised: 12/06/2012] [Accepted: 02/12/2013] [Indexed: 12/23/2022] Open
Abstract
Chronic intestinal pseudo-obstruction is a rare clinical syndrome which is characterized by intestinal obstruction without occluding lesions in the intestinal lumen and pregnancy is one of the important aggravating factors. Here, we report a case of a woman with intractable intestinal pseudo-obstruction that was precipitated by pregnancy. She could not make any stool passage for more than 4 weeks until a fetal gestational age of 17 weeks was reached. However, the patient could be maintained by repetitive colonoscopic decompressions and finally total colectomy could be performed successfully at a fetal gestational age of 21 weeks.
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Affiliation(s)
- Joon Sung Kim
- Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Bo-In Lee
- Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Byung-Wook Kim
- Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Hwang Choi
- Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Yun-Seok Lee
- Department of General Surgery, The Catholic University of Korea College of Medicine, Seoul, Korea
| | - Leeso Maeng
- Department of Pathology, The Catholic University of Korea College of Medicine, Seoul, Korea
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Abstract
Hirschsprung disease (HD) is the most prevalent congenital gastrointestinal motility disorder. The pathogenesis of HD is defined as a functional intestinal obstruction resulting from a defect in the intrinsic innervation of the distal bowel. In addition to the enteric nervous system, the interstitial cells of Cajal (ICC) play an important role in the generation of coordinated gastrointestinal peristalsis. The major function of the ICCs is the generation of slow waves that allow these cells to act as specialised pacemaker cells within various tissues. ICCs have additional functions in the gastrointestinal tract as regulators of mechanical activity and neurotransmission. Due to the central role of ICCs in gastrointestinal peristalsis, it has been suggested that defects or impairments of the ICCs may contribute to motility dysfunction in several gastrointestinal motility disorders. This review describes the distribution and functions of ICCs in the normal gut and in Hirschsprung disease.
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Affiliation(s)
- Stefan Gfroerer
- Department of Paediatric Surgery, University Hospital, Goethe University Frankfurt/M, 60596 Frankfurt/M, Germany,
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28
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Abstract
"Variants of Hirschsprung's disease" are conditions that clinically resemble Hirschsprung's disease (HD), despite the presence of ganglion cells in rectal suction biopsies. The diagnosis and management of these patients can be challenging. Specific histological, immunohistochemical and electron microscopic investigations are required to characterize this heterogeneous group of functional bowel disorders. Variants of HD include intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome. This review article systematically classifies variants of HD based on current diagnostic criteria with an additional focus on pathogenesis, epidemiology, clinical presentation, management and outcome.
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Abstract
Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional intestinal obstruction. Intestinal neuronal dysplasia is histologically characterized by hyperganglionosis, giant ganglia, and ectopic ganglion cells. In most intestinal neuronal dysplasia cases, conservative treatments such as laxatives and enema are sufficient. Some patients may require internal sphincter myectomy. Patients with the diagnosis of isolated hypoganglionosis show decreased numbers of nerve cells, decreased plexus area, as well as increased distance between ganglia in rectal biopsies, and resection of the affected segment has been the treatment of choice. The diagnosis of internal anal sphincter achalasia is based on abnormal rectal manometry findings, whereas rectal suction biopsies display presence of ganglion cells as well as normal acetylcholinesterase activity. Internal anal sphincter achalasia is either treated by internal sphincter myectomy or botulinum toxin injection. Megacystis microcolon intestinal hypoperistalsis is a rare condition, and the most severe form of functional intestinal obstruction in the newborn. Megacystis microcolon intestinal hypoperistalsis is characterized by massive abdominal distension caused by a largely dilated nonobstructed bladder, microcolon, and decreased or absent intestinal peristalsis. Although the outcome has improved in recent years, survivors have to be either maintained by total parenteral nutrition or have undergone multivisceral transplant. This review article summarizes the current knowledge of the aforementioned entities of variant HD.
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Affiliation(s)
- Prem Puri
- National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
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Han EC, Oh HK, Ha HK, Choe EK, Moon SH, Ryoo SB, Park KJ. Favorable surgical treatment outcomes for chronic constipation with features of colonic pseudo-obstruction. World J Gastroenterol 2012; 18:4441-6. [PMID: 22969211 PMCID: PMC3436063 DOI: 10.3748/wjg.v18.i32.4441] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/09/2012] [Revised: 07/16/2012] [Accepted: 07/18/2012] [Indexed: 02/06/2023] Open
Abstract
AIM: To determine long-term outcomes of surgical treatments for patients with constipation and features of colonic pseudo-obstruction.
METHODS: Consecutive 42 patients who underwent surgery for chronic constipation within the last 13 years were prospectively collected. We identified a subgroup with colonic pseudo-obstruction (CPO) features, with dilatation of the colon proximal to the narrowed transitional zone, in contrast to typical slow-transit constipation (STC), without any dilated colonic segments. The outcomes of surgical treatments for chronic constipation with features of CPO were analyzed and compared with outcomes for STC.
RESULTS: Of the 42 patients who underwent surgery for constipation, 33 patients had CPO with dilatation of the colon proximal to the narrowed transitional zone. There were 16 males and 17 females with a mean age of 51.2 ± 16.1 years. All had symptoms of chronic intestinal obstruction, including abdominal distension, pain, nausea, or vomiting, and the mean duration of symptoms was 67 mo (range: 6-252 mo). Preoperative defecation frequency was 1.5 ± 0.6 times/wk (range: 1-2 times/wk). Thirty-two patients underwent total colectomy, and one patient underwent diverting transverse colostomy. There was no surgery-related mortality. Postoperative histologic examination showed hypoganglionosis or agangliosis in 23 patients and hypoganglionosis combined with visceral neuropathy or myopathy in 10 patients. In contrast, histology of STC group revealed intestinal neuronal dysplasia type B (n = 6) and visceral myopathy (n = 3). Early postoperative complications developed in six patients with CPO; wound infection (n = 3), paralytic ileus (n = 2), and intraabdominal abscess (n = 1). Defecation frequencies 3 mo after surgery improved to 4.2 ± 3.2 times/d (range: 1-15 times/d). Long-term follow-up (median: 39.7 mo) was available in 32 patients; all patients had improvements in constipation symptoms, but two patients needed intermittent medication for management of diarrhea. All 32 patients had distinct improvements in constipation symptoms (with a mean bowel frequency of 3.3 ± 1.3 times/d), social activities, and body mass index (20.5 kg/m2 to 22.1 kg/m2) and were satisfied with the results of their surgical treatment. In comparison with nine patients who underwent colectomy for STC without colon dilatation, those in the CPO group had a lower incidence of small bowel obstructions (0% vs 55.6%, P < 0.01) and less difficulty with long-distance travel (6.7% vs 66.7%, P = 0.007) on long-term follow-up.
CONCLUSION: Chronic constipation patients with features of CPO caused by narrowed transitional zone in the left colon had favorable outcomes after total colectomy.
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Lemos SPP, Martins JL, Lemos PVRB, Silva SRGE, Santos FLD, Silva Júnior VAD. Abnormalities of digestive tract innervation in rat fetus treated with ethylenethiourea. Acta Cir Bras 2012; 27:244-50. [DOI: 10.1590/s0102-86502012000300007] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2011] [Accepted: 01/20/2012] [Indexed: 09/13/2023] Open
Abstract
PURPOSE: The pathophysiology of abnormalities associated with myenteric plexus lesions remains imperfectly understood. Such abnormalities have been correlated with subocclusive intestinal conditions in children with Hirschsprung's disease, cases of chronic constipation and, postoperatively, in cases of anorectal anomalies. This study evaluated abnormalities of the myenteric plexus in fetus from female rats that received ethylenethiourea. METHODS: Female rats were exposed to ethylenethiourea on the 11th day of pregnancy (experimental group) or to 0.9% physiological solution (control group). Abnormalities were only found in the experimental group. The digestive tract muscle layer was analyzed morphometrically and changes to the frequencies of nerve plexus cells and interstitial cells of Cajal were evaluated, using hematoxylin-eosin, S-100 protein, neuron-specific enolase and C-Kit, respectively. RESULTS: Muscle and skeletal abnormalities were observed in 100%, anorectal anomalies in 86%, absent tail in 71%, short tail in 29%, duodenal atresia in 5%, esophageal atresia in 5% and persistent omphalomesenteric duct in 5%. Histopathological analysis showed a thinner muscle layer associated with lower frequencies of ganglion cells and interstitial cells of Cajal, in all gastrointestinal tract. CONCLUSION: Severe nerve plexus abnormalities associated with muscle layer atrophy were observed throughout the gastrointestinal tract in newborn rats exposed to ethylenethiourea.
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