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Onishi S, Ieiri S. Conditions that mimic Hirschsprung's disease, but that are not Hirschsprung's disease. WORLD JOURNAL OF PEDIATRIC SURGERY 2025; 8:e000918. [PMID: 40094120 PMCID: PMC11907078 DOI: 10.1136/wjps-2024-000918] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2024] [Accepted: 01/14/2025] [Indexed: 03/19/2025] Open
Abstract
Hirschsprung's disease (HSCR) is widely recognized in pediatric surgery. This condition has been elucidated, and therapeutic approaches have been developed. However, even when ganglion cells are present in the rectum, some patients still experience symptoms such as bowel obstruction, intestinal dilatation, and chronic constipation, which are similar to those observed in HSCR. A consensus regarding the terminology for these diseases is yet to be established. This group of diseases was defined as 'allied disorders of Hirschsprung's disease' (ADHD). They are classified into two categories based on pathology: (1) Abnormal ganglia, including immaturity of ganglia, hypoganglionosis, and intestinal neuronal dysplasia; and (2) Normal ganglia, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), segmental dilatation, internal anal sphincter achalasia, and chronic idiopathic intestinal pseudo-obstruction (CIIP). Hypoganglionosis, MMIHS, and CIIP are particularly severe and not curable by surgery. Guidelines were compiled to facilitate an accurate clinical diagnosis and provide appropriate treatment strategies for each disease. A full-thickness rectal biopsy with H&E and acetylcholinesterase staining is often required for a differential diagnosis. Patients are now able to survive longer with enteral nutrition combined with long-term intravenous nutrition and decompression of the gastrointestinal tract. However, all treatment strategies are symptomatic. It is necessary to improve the results of small intestine transplantation and to develop new therapies using regenerative medicine.
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Affiliation(s)
- Shun Onishi
- Department of Pediatric Surgery, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Kagoshima, Japan
| | - Satoshi Ieiri
- Department of Pediatric Surgery, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Kagoshima, Japan
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Yoshimaru K, Matsuura T, Uchida Y, Sonoda S, Maeda S, Kajihara K, Kawano Y, Shirai T, Toriigahara Y, Kalim AS, Zhang XY, Takahashi Y, Kawakubo N, Nagata K, Yamaza H, Yamaza T, Taguchi T, Tajiri T. Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders. Surg Today 2024; 54:977-994. [PMID: 37668735 DOI: 10.1007/s00595-023-02741-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2023] [Accepted: 08/06/2023] [Indexed: 09/06/2023]
Abstract
Hirschsprung disease (HSCR) and its associated disorders (AD-HSCR) often result in severe hypoperistalsis caused by enteric neuropathy, mesenchymopathy, and myopathy. Notably, HSCR involving the small intestine, isolated hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction, and megacystis-microcolon-intestinal hypoperistalsis syndrome carry a poor prognosis. Ultimately, small-bowel transplantation (SBTx) is necessary for refractory cases, but it is highly invasive and outcomes are less than optimal, despite advances in surgical techniques and management. Thus, regenerative therapy has come to light as a potential form of treatment involving regeneration of the enteric nervous system, mesenchyme, and smooth muscle in affected areas. We review the cutting-edge regenerative therapeutic approaches for managing HSCR and AD-HSCR, including the use of enteric nervous system progenitor cells, embryonic stem cells, induced pluripotent stem cells, and mesenchymal stem cells as cell sources, the recipient intestine's microenvironment, and transplantation methods. Perspectives on the future of these treatments are also discussed.
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Affiliation(s)
- Koichiro Yoshimaru
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Toshiharu Matsuura
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, 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, 812-8582, Japan
| | - Soichiro Sonoda
- Department of Molecular Cell Biology and Oral Anatomy, Kyushu University Graduate School of Dental Science, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Shohei Maeda
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Keisuke Kajihara
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Yuki Kawano
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Takeshi Shirai
- Department of Pediatric Surgery, Miyazaki Prefectural Miyazaki Hospital, 5-30 Kitatakamatsu-cho, Miyazaki, Miyazaki, 880-8510, Japan
| | - Yukihiro Toriigahara
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Alvin Santoso Kalim
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Xiu-Ying Zhang
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Yoshiaki Takahashi
- Department of Pediatric Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Chuo-ku, Niigata, Japan
| | - Naonori Kawakubo
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Kouji Nagata
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Haruyoshi Yamaza
- Department of Pediatric Dentistry, Kyushu University Graduate School of Dental Science, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Takayoshi Yamaza
- Department of Molecular Cell Biology and Oral Anatomy, Kyushu University Graduate School of Dental Science, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
| | - Tomoaki Taguchi
- Fukuoka College of Health Sciences, 2-15-1 Tamura, Sawara-ku, Fukuoka, 814-0193, Japan
| | - Tatsuro Tajiri
- Department of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan
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Tamaki A, Kohashi K, Yoshimaru K, Hino Y, Hamada H, Kawakubo N, Taguchi T, Tajiri T, Oda Y. A Novel Objective Pathologic Criterion for Isolated Hypoganglionosis. Am J Surg Pathol 2024; 48:803-812. [PMID: 38726836 DOI: 10.1097/pas.0000000000002243] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/21/2024]
Abstract
Isolated hypoganglionosis (IHG) is histologically characterized by small numbers of myenteric ganglion cells and small myenteric ganglia; however, no numerical diagnostic criteria for IHG have been established. Therefore, this study aimed to develop quantitative pathologic criteria for IHG. We evaluated 160 resected intestinal tissue specimens from 29 pediatric autopsies and 10 IHG cases. These specimens were obtained from the jejunum, ileum, ascending colon, transverse colon, and rectum. Morphologic features of the myenteric ganglion cells and myenteric ganglia were quantified and analyzed in digitized HuC/HuD-immunostained and CD56-immunostained sections, respectively. Quantitative criteria were developed with a scoring system that used parameters with the area under the receiver operating characteristic curve (AUC) values >0.7 and sensitivity and specificity exceeding 70%. The selected parameters were the number of myenteric ganglion cells per cm and the number of myenteric ganglia with an area >2500 µm 2 per cm. The score for each parameter ranged from -1 to 2, and the total score of the scoring system ranged from -2 to 4. With a cutoff value of ≥2 (AUC, 0.98; 95% CI: 0.96-1.00), the scoring system had a sensitivity of 96% (95% CI: 0.82-1.00) and a specificity of 99% (95% CI: 0.95-1.00). We devised a novel pathologic criterion based on the quantification of the number of myenteric ganglion cells and ganglia. Furthermore, this criterion showed high diagnostic accuracy and could lead to a definitive diagnosis of IHG in clinical practice.
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Affiliation(s)
- Akihiko Tamaki
- Departments of Anatomic Pathology
- Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka
| | - Kenichi Kohashi
- Department of Pathology, Graduate School of Medicine, Osaka Metropolitan University, Osaka
| | | | - Yuko Hino
- Departments of Anatomic Pathology
- Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka
| | - Hiroshi Hamada
- Departments of Anatomic Pathology
- Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka
| | - Naonori Kawakubo
- Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka
| | - Tomoaki Taguchi
- Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
| | - Tatsuro Tajiri
- Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka
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Hu M, Fang H, Hu Y, Lu C, Chen Y, Zhong Z, Shi H, Wang Q. An Unusual Cause of Intestinal Ulcers Masquerading as Inflammatory Bowel Disease: A Case Report of Allied Disorders of Hirschsprung's Disease. J Inflamm Res 2024; 17:3093-3099. [PMID: 38779428 PMCID: PMC11110832 DOI: 10.2147/jir.s459548] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2024] [Accepted: 05/09/2024] [Indexed: 05/25/2024] Open
Abstract
Background Allied disorders of Hirschsprung's disease (ADHD) exhibit symptoms akin to those of Hirschsprung's disease, primarily characterized by intestinal obstruction, bowel dilatation, and chronic constipation. The occurrence of amyloid complications in patients with ADHD is infrequent. In this report, we present a case of ADHD with intestinal ulcers as the initial gastrointestinal manifestation, and subsequent pathological examination revealed the presence of amyloid deposits in the colonic mucosa. Case Report A male patient, aged 20, exhibited recurring abdominal distension and intestinal obstruction for a duration of three years. Multiple colonoscopies revealed the presence of recurrent colonic ulcers, with pathological examination indicating the existence of amyloid deposits within the mucosal layer of the colon. Abdominal CT scans suggested colonic dilatation. Following a multidisciplinary consultation, a subtotal resection of the colon was performed, and subsequent postoperative pathology confirmed a decrease and absence of myenteric plexus ganglion cells. Considering the patient's symptoms and the findings from the postoperative pathology, a diagnosis of ADHD was made. The patient's symptoms resolved postoperatively and he was discharged from the hospital and followed up for 1 year in stable condition. Conclusion Our study highlights the potential association between ADHD and the initial presentation of recurrent colonic ulcers, accompanied by amyloid deposition in the intestinal mucosa. This finding suggests a possible pathogenic mechanism for ADHD and offers a novel perspective on its diagnosis.
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Affiliation(s)
- Minli Hu
- Department of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Hao Fang
- Department of Traumatology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Yibing Hu
- Department of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Chong Lu
- Department of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Yuan Chen
- Department of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Zhifeng Zhong
- Department of Anus & Intestine Surgery, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Hongqi Shi
- Department of Pathology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
| | - Qunying Wang
- Department of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, Zhejiang, People’s Republic of China
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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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Yamada Y, Mori T, Takahashi N, Fujimura T, Kano M, Kato M, Takahashi M, Shimojima N, Watanabe T, Yoshioka T, Kanamori Y, Kuroda T, Fujino A. Historical Cohort Study of Congenital Isolated Hypoganglionosis of the Intestine: Determining the Best Surgical Interventions. Biomolecules 2023; 13:1560. [PMID: 37892242 PMCID: PMC10605557 DOI: 10.3390/biom13101560] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2023] [Revised: 10/09/2023] [Accepted: 10/15/2023] [Indexed: 10/29/2023] Open
Abstract
No standard diagnostic method or surgical treatment for congenital isolated hypoganglionosis (CIHG) has been established. This study aimed to analyze the clinical outcomes of patients with CIHG and identify the best surgical interventions provided thus far. Data on surgical interventions in 19 patients were collected between 1992 and 2020, including the type of enterostomy, type of revision, and length of the intestines. Ganglion cells in the myenteric plexus were enumerated using Hu C/D staining. The ratio of the length of the small intestine to its height was defined as the intestinal ratio (IR). The outcomes were assessed using the stoma output, growth parameters including the body mass index (BMI), and parenteral nutrition (PN) dependency. All patients required a diverting enterostomy. The IR ranged from 0.51 to 1.75 after multiple non-transplant surgeries. The stoma types were tube-stoma, end-stoma, Santulli-type, and Bishop-Koop (BK)-type. Patients with Santulli- or BK-type stomas had better BMIs and less PN dependency in terms of volume than those with end-stomas or tube-stomas. Two patients with BK-type stomas were off PN, and three who underwent an intestinal transplantation (Itx) achieved enteral autonomy. The management of CIHG involves a precise diagnosis using Hu C/D staining, neonatal enterostomy, and stoma revision using the adjusted IR and Itx if other treatments do not enable enteral autonomy.
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Affiliation(s)
- Yohei Yamada
- Department of Pediatric Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan; (N.T.); (M.K.); (A.F.)
| | - Teizaburo Mori
- Department of Pediatric Surgery, National Center for Child Health and Development, Tokyo 157-8535, Japan; (T.M.); (M.K.); (M.T.); (Y.K.)
| | - Nobuhiro Takahashi
- Department of Pediatric Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan; (N.T.); (M.K.); (A.F.)
| | - Takumi Fujimura
- Department of Pediatric Surgery, National Hospital Organization Saitama National Hospital, Saitama 351-0102, Japan;
| | - Motohiro Kano
- Department of Pediatric Surgery, National Center for Child Health and Development, Tokyo 157-8535, Japan; (T.M.); (M.K.); (M.T.); (Y.K.)
| | - Mototoshi Kato
- Department of Pediatric Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan; (N.T.); (M.K.); (A.F.)
| | - Masataka Takahashi
- Department of Pediatric Surgery, National Center for Child Health and Development, Tokyo 157-8535, Japan; (T.M.); (M.K.); (M.T.); (Y.K.)
| | - Naoki Shimojima
- Department of Surgery, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan;
| | - Toshihiko Watanabe
- Department of Pediatric Surgery, Tokai University School of Medicine, Kanagawa 259-1193, Japan;
| | - Takako Yoshioka
- Department of Pathology, National Center for Child Health and Development, Tokyo 157-8535, Japan;
| | - Yutaka Kanamori
- Department of Pediatric Surgery, National Center for Child Health and Development, Tokyo 157-8535, Japan; (T.M.); (M.K.); (M.T.); (Y.K.)
| | - Tatsuo Kuroda
- Kanagawa Children’s Medical Center, Yokohama 232-0066, Japan;
| | - Akihiro Fujino
- Department of Pediatric Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan; (N.T.); (M.K.); (A.F.)
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Huan PD, Lieu DQ, Dung TN, Long TB, Anh TN, Dung LQ, Phan ND, Vinh NTT, Duc NM. A case report of segmental hypoganlionosis of the ileum in an adult. Radiol Case Rep 2023; 18:2073-2077. [PMID: 37089968 PMCID: PMC10113777 DOI: 10.1016/j.radcr.2023.03.012] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/04/2023] [Revised: 03/01/2023] [Accepted: 03/03/2023] [Indexed: 04/07/2023] Open
Abstract
Intestinal hypoganglionosis in adults is quite uncommon, and hypoganglionosis of the ileum has not been documented to date. The majority of studies on this disorder are single case reports and brief case series. We describe a 30-year-old male patient with bowel obstruction and intestinal hypoganglionosis of the ileum and we review the literature on the disorder.
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Houidi S, Sahli S, Zouaoui A, Mansouri Y, Doghri I, Mrad K, Jouini R. Unusual occurrence of acquired hypoganglionosis following surgery for Hirschsprung's disease. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2022. [DOI: 10.1016/j.epsc.2022.102447] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022] Open
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Jiang S, Song CY, Feng MX, Lu YQ. Adult patients with allied disorders of Hirschsprung’s disease in emergency department: An 11-year retrospective study. World J Gastrointest Surg 2022; 14:656-669. [PMID: 36158276 PMCID: PMC9353751 DOI: 10.4240/wjgs.v14.i7.656] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/17/2021] [Revised: 09/21/2021] [Accepted: 06/26/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND In the past years, only a few studies with a limited number of adult patients analyzed clinical features of allied disorders of Hirschsprung’s disease (ADHD), most of which were individual case reports or lacked detailed clinical information. Although many studies have reported patients presenting to the emergency department (ED) with recurrent abdominal symptoms for a number of disorders, there are few data involving ADHD. However, owing to a lack of awareness of the disease, misdiagnoses and mistreatments are common. Severe complications such as perforation, bleeding, malabsorption, and even death in ADHD had been reported by many studies.
AIM To assist ED clinicians in having a more comprehensive understanding of this disease and making an early suspected diagnosis of ADHD more effectively.
METHODS We enrolled 53 patients who visited the ED and were eventually diagnosed with ADHD over the past 11 years in our hospital. Their basic information, clinical manifestations, and imaging findings were analyzed. Blood indices were compared between the ADHD and irritable bowel syndrome (IBS) groups.
RESULTS Adult patients with ADHD had a mean age of 48.8 ± 14.3 years, and 77.4% had been treated before admission. The transverse colon was the most common dilated part (73.6%), and constipation (67.9%) was the most common symptom. ADHD patients can present with uncommon symptoms and false-negative imaging findings. Logistic regression analysis indicated that body mass index (BMI) [odds ratio (OR) = 0.786, P = 0.013], cholinesterase (per 1000 units; OR = 0.693, P = 0.008), and blood chlorine (OR = 0.816, P = 0.022) were determined to be independent related factors between the ADHD and IBS groups. The area under the receiver operating characteristics curve of these three indices combined was 0.812 (P < 0.001).
CONCLUSION Emergency physicians should be vigilant regarding patients with chronic constipation, abdominal pain, or abdominal distension, and consider the possibility of ADHD despite its rarity. Abdominal computed tomography examination is recommended as a useful tool in the suspected diagnosis of ADHD. BMI, cholinesterase, and blood chlorine have good discriminative abilities between ADHD and IBS. The nutritional status of adult patients with ADHD is worthy of further attention. Surgical treatment for adult patients with ADHD is important and inevitable.
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Affiliation(s)
- Shuai Jiang
- Department of Emergency Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
- Key Laboratory for Diagnosis and Treatment of Aging and Physic-chemical Injury Diseases of Zhejiang Province, Hangzhou 310003, Zhejiang Province, China
| | - Cong-Ying Song
- Department of Emergency Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
- Key Laboratory for Diagnosis and Treatment of Aging and Physic-chemical Injury Diseases of Zhejiang Province, Hangzhou 310003, Zhejiang Province, China
| | - Meng-Xiao Feng
- Department of Emergency Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
- Key Laboratory for Diagnosis and Treatment of Aging and Physic-chemical Injury Diseases of Zhejiang Province, Hangzhou 310003, Zhejiang Province, China
| | - Yuan-Qiang Lu
- Department of Emergency Medicine, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
- Key Laboratory for Diagnosis and Treatment of Aging and Physic-chemical Injury Diseases of Zhejiang Province, Hangzhou 310003, Zhejiang Province, China
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10
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Dental pulp stem cells as a therapy for congenital entero-neuropathy. Sci Rep 2022; 12:6990. [PMID: 35484137 PMCID: PMC9051124 DOI: 10.1038/s41598-022-10077-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2021] [Accepted: 03/22/2022] [Indexed: 11/09/2022] Open
Abstract
Hirschsprung's disease is a congenital entero-neuropathy that causes chronic constipation and intestinal obstruction. New treatments for entero-neuropathy are needed because current surgical strategies have limitations5. Entero-neuropathy results from enteric nervous system dysfunction due to incomplete colonization of the distal intestine by neural crest-derived cells. Impaired cooperation between the enteric nervous system and intestinal pacemaker cells may also contribute to entero-neuropathy. Stem cell therapy to repair these multiple defects represents a novel treatment approach. Dental pulp stem cells derived from deciduous teeth (dDPSCs) are multipotent cranial neural crest-derived cells, but it remains unknown whether dDPSCs have potential as a new therapy for entero-neuropathy. Here we show that intravenous transplantation of dDPSCs into the Japanese Fancy-1 mouse, an established model of hypoganglionosis and entero-neuropathy, improves large intestinal structure and function and prolongs survival. Intravenously injected dDPSCs migrate to affected regions of the intestine through interactions between stromal cell-derived factor-1α and C-X-C chemokine receptor type-4. Transplanted dDPSCs differentiate into both pacemaker cells and enteric neurons in the proximal colon to improve electrical and peristaltic activity, in addition to their paracrine effects. Our findings indicate that transplanted dDPSCs can differentiate into different cell types to correct entero-neuropathy-associated defects.
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Terra SA, Gonçalves AC, Lourenção PLTDA, Rodrigues MAM. Challenges in the diagnosis of intestinal neuronal dysplasia type B: A look beyond the number of ganglion cells. World J Gastroenterol 2021; 27:7649-7660. [PMID: 34908804 PMCID: PMC8641051 DOI: 10.3748/wjg.v27.i44.7649] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2021] [Revised: 04/26/2021] [Accepted: 11/11/2021] [Indexed: 02/06/2023] Open
Abstract
Intestinal neuronal dysplasia type B (IND-B) is a controversial condition among gastrointestinal neuromuscular disorders. Constipation is its most common clinical manifestation in patients. Despite intense scientific research, there are still knowledge gaps regarding the diagnostic criteria for IND-B in the histopathological analysis of rectal biopsies. The guidelines published in the past three decades have directed diagnostic criteria for quantifying the number of ganglion cells in the nervous plexus of the enteric nervous system. However, it is very complex to distinguish numerically what is pathological from what is normal, mainly because of the difficulty in determining a reliable control group composed of healthy children without intestinal symptoms. Thus, a series of immunohistochemical markers have been proposed to assist in the histopathological analysis of the enteric nervous system. Several of these markers facilitate the identification of other structures of the enteric nervous system, in addition to ganglion cells. These structures may be related to the etiopathogenesis of IND-B and represent new possibilities for the histopathological diagnosis of this disease, providing a view beyond the number of ganglion cells. This review critically discusses the aspects related to the disease definitions and diagnostic criteria of this organic cause of constipation.
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Affiliation(s)
- Simone Antunes Terra
- Department of Pathology, Faculty of Medicine, São Paulo State University (UNESP), Botucatu 18618687, São Paulo, Brazil
| | - Anderson Cesar Gonçalves
- Department of Surgery and Orthopedics, Botucatu Medical School - São Paulo State University (UNESP), Botucatu 18618970, São Paulo, Brazil
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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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Shen D, Li J, Fan L. Echocardiographic Diagnosis of Congenital Arterial Catheter Function Changes. JOURNAL OF MEDICAL IMAGING AND HEALTH INFORMATICS 2021. [DOI: 10.1166/jmihi.2021.3690] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
Abstract
Arterial catheter is physiological flow channel between pulmonary artery and descending aorta in fetal circulation. Most right heart blood flow through artery catheter into descending aorta during embryo period. Most term neonates are usually stopped after fetal delivery. Functional
closure occurs in 48 h after birth, while 88% should be closed completely at 8 weeks after birth. There was no significant difference between PDA occlusion technique guided by transthoracic echocardiography and conventional funnel PDA closure rate, total closure rate, long term closure rate,
pulmonary systolic pressure before surgery and pulmonary artery pressure difference before and after operation (P < 0.05). Conversely, under similar therapeutic effects, funnel type PDA closure guided by transthoracic echocardiography has advantages such as shorter anesthesia time,
less total ray volume and contrast agent, lower hospitalization expense and fewer complications. Therefore, through transthoracic echocardiography guidance delivery of order vein approach interventional closure therapy funnel type PDA especially suitable for children, worthy of clinical application.
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Affiliation(s)
- Dan Shen
- Department of Echocardiography, The Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, Changzhou Jiangsu, 213000, China
| | - Jie Li
- Department of Echocardiography, The Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, Changzhou Jiangsu, 213000, China
| | - Li Fan
- Department of Echocardiography, The Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, Changzhou Jiangsu, 213000, China
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Galazka P, Szylberg L, Bodnar M, Styczynski J, Marszalek A. Diagnostic Algorithm in Hirschsprung's Disease: Focus on Immunohistochemistry Markers. In Vivo 2021; 34:1355-1359. [PMID: 32354930 DOI: 10.21873/invivo.11913] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2020] [Revised: 01/29/2020] [Accepted: 02/03/2020] [Indexed: 01/09/2023]
Abstract
BACKGROUND/AIM Hirschsprung disease (HD) is caused by the congenital absence of ganglion cells in the distal bowel (aganglionosis). Rectal biopsy is considered important for its diagnosis. The aim of this study was to apply immunohistochemical staining using a minimal set of antibodies and develop an algorithm that will assist in the diagnosis of HD. PATIENTS AND METHODS Rectal or colonic biopsies were performed in patients with HD (n=26) or patients treated for other bowel diseases (n=34). Immunohistochemical staining was performed for MAP1b, peripherin, S-100, calretinin, NSE, bcl-2 and CD56 proteins. RESULTS Staining for CD56, S-100, peripherin and calretinin facilitated the identification of ganglion cells. The use of CD56 and S-100 antibodies together resulted in the highest rate of ganglion cell staining intensity (94%). CONCLUSION We propose a practical diagnostic algorithm with the application of CD56 and S-100 antibodies that can be used in clinical practice in children suspected of Hirschsprung's disease.
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Affiliation(s)
- Przemyslaw Galazka
- Department of General and Oncological Surgery for Children and Adolescents, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland .,Department of Pediatric Hematology and Oncology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland
| | - Lukasz Szylberg
- Department of Clinical Pathology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland
| | - Magdalena Bodnar
- Department of Clinical Pathology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland
| | - Jan Styczynski
- Department of Pediatric Hematology and Oncology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland
| | - Andrzej Marszalek
- Department of Clinical Pathology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland.,Department of Oncologic Pathology and Prophylaxis, Poznan University of Medical Sciences & Greater Poland Cancer Center, Poznan, Poland
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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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PHOX2B Immunostaining: A Simple and Helpful Tool for the Recognition of Ganglionic Cells and Diagnosis of Hirschsprung Disease. Am J Surg Pathol 2020; 44:1389-1397. [PMID: 32604166 DOI: 10.1097/pas.0000000000001528] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
Hirschsprung disease (HD) is a congenital disorder of the enteric nervous system that occurs in ∼1 in 5000 live births. It is characterized by the absence of ganglionic cells (GCs) in the distal intestine. The diagnosis relies on the thorough analysis of a rectal suction biopsy (RSB), which must show a complete absence of GCs after careful examination of at least 100 serial sections. Such a negative characteristic explains the difficulty of this diagnosis. Moreover, GCs may be immature in very young or preterm born children, making them hard to recognize. Therefore, ancillary techniques have been developed as diagnostic help, such as acetylcholinesterase histochemistry and calretinin immunostaining. These techniques reveal only indirect clues, focusing mainly on the changes in nerve fibers, but not on GCs themselves. As PHOX2B has been shown to be a very specific transcription factor in GCs and in progenitor enteric nerve cells, we have assessed (i) PHOX2B immunostaining in immature enteric ganglia and (ii) the use of PHOX2B immunostaining for the recognition of GCs on RSBs for suspicion of HD. We have observed PHOX2B expression in all GCs, both mature and immature, and its complete absence in Hirschsprung cases. We suggest that the use of PHOX2B immunostaining is of great help (i) in the recognition of GCs on RSBs regardless of their differentiation and therefore (ii) in the diagnosis of HD.
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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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Tominaga T, Nagayama S, Takamatsu M, Miyanari S, Nagasaki T, Yamaguchi T, Akiyoshi T, Konishi T, Fujimoto Y, Fukunaga Y, Ueno M. A case of severe megacolon due to acquired isolated hypoganglionosis after low anterior resection for lower rectal cancer. Clin J Gastroenterol 2019; 13:328-333. [PMID: 31828729 PMCID: PMC7239813 DOI: 10.1007/s12328-019-01079-2] [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: 09/07/2019] [Accepted: 11/29/2019] [Indexed: 12/17/2022]
Abstract
Acquired isolated hypoganglionosis is a rare intestinal neurological disease, which presents in adulthood with the clinical symptoms of chronic constipation. A 39-year-old man underwent laparoscopic low anterior resection and covering ileostomy for locally advanced-rectal cancer. A 6-month course of postoperative adjuvant chemotherapy was completed, followed by closure of the ileostoma. After the closure, he developed severe colitis which required 1-month of hospitalization. Mucosal erosions and pseudo-membrane formation were evident on colonoscopy and severe mucosal damage characterized by infiltration of inflammatory cells and crypt degeneration were pathologically confirmed. Even after the remission of the colitis, he suffered from severe constipation and distention. At 4 years after the stoma closure, he decided to undergo laparoscopic total colectomy. Histopathologically, the nerve fibers and ganglion cells became gradually scarcer from the non-dilated to dilated regions. Immunohistochemical staining examination confirmed that the ganglion cells gradually decreased and became degenerated from the normal to dilated region, thereby arriving at the final diagnosis of isolated hypoganglionosis. The patient recovered without any complications and there has been no evidence of any relapse of the symptoms. We present a case of acquired isolated hypoganglionosis-related megacolon, which required laparoscopic total colectomy, due to severe enterocolitis following stoma closure.
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Affiliation(s)
- Tetsuro Tominaga
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Satoshi Nagayama
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.
| | - Manabu Takamatsu
- Division of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Shun Miyanari
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Toshiya Nagasaki
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Tomohiro Yamaguchi
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Takashi Akiyoshi
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Tsuyoshi Konishi
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Yoshiya Fujimoto
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Yosuke Fukunaga
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Masashi Ueno
- Department of Gastroenterological Surgery, Gastroenterological Cancer, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
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Liu YR, Ba F, Cheng LJ, Li X, Zhang SW, Zhang SC. Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood. Clin Transl Gastroenterol 2019; 10:e00093. [PMID: 31789936 PMCID: PMC6970557 DOI: 10.14309/ctg.0000000000000093] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/19/2019] [Accepted: 09/19/2019] [Indexed: 12/31/2022] Open
Abstract
OBJECTIVES Intestinal neuronal dysplasia (IND) is a common malformation of the enteric nervous system. Diagnosis requires a full-thickness colonic specimen and an experienced pathologist, emphasizing the need for noninvasive analytical methods. Recently, the methylation level of the Sox10 promoter has been found to be critical for enteric nervous system development. However, whether it can be used for diagnostic purposes in IND is unclear. METHODS Blood and colon specimens were collected from 32 patients with IND, 60 patients with Hirschsprung disease (HD), and 60 controls. Sox10 promoter methylation in the blood and the Sox10 expression level in the colon were determined, and their correlation was analyzed. The diagnostic efficacy of blood Sox10 promoter methylation was analyzed by receiver operating characteristic curve. RESULTS The blood level of Sox10 promoter methylation at the 32nd locus was 100% (90%-100%; 95% confidence interval [CI], 92.29%-96.37%) in control, 90% (80%-90%; 95% CI, 82.84%-87.83%) in HD, and 60% (50%-80%; 95% CI, 57.12%-69.76%) in IND specimens. Sox10 promoter methylation in the peripheral blood was negatively correlated with Sox10 expression in the colon, which was low in control, moderate in HD, and high in IND specimens (r = -0.89). The area under the curve of Sox10 promoter methylation in the diagnosis of IND was 0.94 (95% CI, 0.874-1.000, P = 0.000), with a cutoff value of 85% (sensitivity, 90.6%; specificity, 95.0%). By applying a cutoff value of 65%, promoter methylation was more indicative of IND than HD. DISCUSSION The analysis of Sox10 promoter methylation in the peripheral blood can be used as a noninvasive method for IND diagnosis.
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Affiliation(s)
- Yu-Rong Liu
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Fang Ba
- Department of Rehabilitation, Shengjing Hospital of China Medical University, Shenyang, China
| | - Lan-Jie Cheng
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Xu Li
- Department of Pediatric Surgery, Capital Institute of Pediatrics of Capital Medical University, Beijing, China
| | - Shi-Wei Zhang
- Department of Pediatric Surgery, Harbin Children's Hospital, Harbin, China
| | - Shu-Cheng Zhang
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
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21
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HuC/D expression in small round cell tumors and neuroendocrine tumors: a useful tool for distinguishing neuroblastoma from childhood small round cell tumors. Hum Pathol 2019; 85:162-167. [DOI: 10.1016/j.humpath.2018.11.004] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/19/2018] [Revised: 10/30/2018] [Accepted: 11/02/2018] [Indexed: 12/13/2022]
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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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Furukawa T, Takeuchi Y, Tanaka T, Yoshimaru K, Taguchi T, Tajiri T. Localized isolated hypoganglionosis in an infant. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2018. [DOI: 10.1016/j.epsc.2017.09.036] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
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