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Canesin W, Volpe F, Falquetti L, Marques M, Marques I, Saia R, Gadde R, Garcia S, Sbragia L. Botulinum toxin improved intestinal adaptation to short gut in a twenty-one-day-old weanling rat. Braz J Med Biol Res 2025; 58:e14124. [PMID: 39907427 PMCID: PMC11793146 DOI: 10.1590/1414-431x2024e14124] [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: 08/08/2024] [Accepted: 11/06/2024] [Indexed: 02/06/2025] Open
Abstract
Necrotizing enterocolitis (NEC) is a severe intestinal disease of multifactorial origin that primarily affects premature infants. Approximately 27% of NEC babies develop short gut (SG) secondary to extensive intestinal resection, and 10% will have chronic dependence on total parenteral nutrition. We evaluated the Botox treatment in SG model rats. Twenty-day-old weanling male rats (weight range 38-70 g, n=72) were divided into four groups (n=18 each): 1) Control (fed a regular liquid diet); 2) Botox (Control submitted to laparotomy and intestinal injection of Botox®); 3) SG (short gut); and 4) SG and Botox (SG+Botox®). After seven post-operative days, samples were collected for biometrics [body weight (BW), intestine weight (IW) and IW/BW ratio (IBR), and intestine length (IL) and height (IH)], histometric analysis [villous height (VH), crypt depth (CD), muscular thickness (MT), and PCNA index)], and intestinal transit time (ITT). BW, IW, and IL decreased in SG (P<0.05). IH, VH, and PCNA index increased in Botox groups [Control = SG < Botox and SG+Botox (P<0.05)], CD increased in Botox, SG, and SG+Botox (P<0.005), and MT was higher in SG and SG+Botox. Botox groups had lower ITT (P<0.05). Botox provided dilatation and histological changes in SG. These findings suggested that Botox improved adaptation and might be applied in SG with promising results.
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Affiliation(s)
- W.C. Canesin
- Divisão de Cirurgia e Anatomia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - F.P. Volpe
- Divisão de Cirurgia e Anatomia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - L. Falquetti
- Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - M.Q. Marques
- Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - I.C.S. Marques
- Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - R.S. Saia
- Departamento de Fisiologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - R. Gadde
- Division of Pediatric Surgery, Nationwide Children's Hospital, Columbus, OH, USA
| | - S.B. Garcia
- Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
| | - L. Sbragia
- Divisão de Cirurgia e Anatomia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil
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Homan M, Thomson M, Bontems P, Saccomani MD, Dias JA, Faraci S, Furlano R, Hojsak I, Ledder O, Slae M, Narula P, Nita AF, Norsa L, Oliva S, Papadopoulou A, Romano C, Rybak A, Spyropoulou V, Tambucci R, Tzivinikos C, van Wijk M, Borrelli O, Endoscopy SIG and Motility SIG of ESPGHAN Organisation. Drugs in focus: Botulinum toxin in the therapy of gastrointestinal disorders in children. J Pediatr Gastroenterol Nutr 2024; 79:1096-1105. [PMID: 39315663 PMCID: PMC11615126 DOI: 10.1002/jpn3.12376] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2024] [Revised: 08/10/2024] [Accepted: 09/05/2024] [Indexed: 09/25/2024]
Abstract
What is Known Botulinum toxin (BoNT) causes muscle relaxation by inhibiting acetylcholine release from presynaptic motor neurons at the neuromuscular junction. What is New In children with achalasia, BoNT can be considered only in patients in whom rapid weight gain is important to improve surgical outcomes. BoNT has been suggested for treating cricopharyngeal achalasia and delayed gastric emptying. Anal achalasia and constipation after Hirschsprung disease corrective surgery are very promising indications for BoNT use. In selected children with resistant type of functional constipation and chronic anal fissure, BoNT is a viable option for treating.
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Affiliation(s)
- Matjaž Homan
- Department of Gastroenterology, Hepatology, and Nutrition, University Children's Hospital, Faculty of MedicineUniversity of LjubljanaLjubljanaSlovenia
| | - Mike Thomson
- Department of Paediatric GastroenterologySheffield Children's Hospital NHS FT and University of SheffieldSheffieldUK
| | - Patrick Bontems
- Paediatric Gastroenterology, Hôpital Universitaire des Enfants Reine FabiolaUniversité Libre de BruxellesBrusselsBelgium
| | | | - Jorge Amil Dias
- Department of GastroenterologyHospital LusíadasPortoPortugal
| | - Simona Faraci
- Gastroenterology and Nutrition UnitBambino Gesù Children's Hospital, IRCCSRomeItaly
| | - Raoul Furlano
- Department of GastroenterologyUniversity Children's Hospital Basel (UKBB), University of BaselBaselSwitzerland
| | - Iva Hojsak
- Children's Hospital ZagrebUniversity of Zagreb Medical SchoolZagrebCroatia
| | - Oren Ledder
- Juliet Keidan Institute of Pediatric Gastroenterology, Shaare Zedek Medical CenterHebrew University of JerusalemJerusalemIsrael
| | - Mordechai Slae
- Pediatric Gastroenterology, Hepatology and Nutrition UnitHadassah University HospitalJerusalemIsrael
| | - Priya Narula
- Department of Paediatric GastroenterologySheffield Children's Hospital NHS FT and University of SheffieldSheffieldUK
| | | | - Lorenzo Norsa
- Pediatric Department, Children's Hospital Vittore BuzziUniversity of MilanMilanItaly
| | - Salvatore Oliva
- Pediatric Gastroenterology and Liver Unit, Maternal and Child Health DepartmentSapienza—University of RomeRomeItaly
| | - Alexandra Papadopoulou
- Division of Gastroenterology and Hepatology, First Department of PediatricsUniversity of Athens, Children's Hospital Agia SofiaAthensGreece
| | - Claudio Romano
- Claudio Romano Pediatric Gastroenterology and Cystic Fibrosis UnitUniversity of MessinaMessinaItaly
| | - Anna Rybak
- Paediatric Gastroenterology DepartmentGreat Ormond Street HospitalLondonUK
| | - Vasiliki Spyropoulou
- Division of Gastroenterology, Hepatology and NutritionUniversity Children's Hospital ZurichZurichSwitzerland
| | - Renato Tambucci
- Gastroenterology and Nutrition UnitBambino Gesù Children's Hospital, IRCCSRomeItaly
| | - Christos Tzivinikos
- Pediatric Gastroenterology Department, Al Jalila Children's Specialty HospitalMohammed Bin Rashid University of Medicine and Health SciencesDubaiUnited Arab Emirates
| | - Michiel van Wijk
- Emma Children's Hospital‐Amsterdam UMCVrije Universiteit AmsterdamAmsterdamthe Netherlands
| | - Osvaldo Borrelli
- Paediatric Gastroenterology DepartmentGreat Ormond Street HospitalLondonUK
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Slaczka F, Uruthirakumar R, Slaczka M, Bozeman A. Refractory Chronic Constipation in an Adolescent Female Later Diagnosed With Internal Anal Sphincter Achalasia. Cureus 2024; 16:e57135. [PMID: 38681397 PMCID: PMC11055602 DOI: 10.7759/cureus.57135] [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: 03/27/2024] [Indexed: 05/01/2024] Open
Abstract
Internal anal sphincter achalasia (IASA) is a rare anorectal disorder that presents as chronic refractory constipation in pediatrics. With a poor response to conventional constipation-based therapy, it is often misdiagnosed as other conditions, such as ultra-short-segment Hirschsprung disease. This case report describes a rare case of IASA in an adolescent female, emphasizing the importance of ruling out other differentials, including Hirschsprung disease, via rectal biopsy and thus allowing for earlier targeted therapy to improve lifestyle conditions. A 20-year-old female with a history of IASA presents for semiannual botulism toxin injections. Despite initial relief, her constipation symptoms gradually returned after four to five months. She has had a history of ineffective conventional constipation treatments since childhood, which prompted a further workup. Biopsy results during her teenage years confirmed the presence of ganglionic cells, differentiating IASA from Hirschsprung disease. The management plan involved biannual perianal Botox injections, offering relief for approximately six months. IASA's physiological basis involves altered innervation, the absence of nitrergic nerves, and defective neuromuscular junctions in the internal anal sphincter. Diagnosis requires anorectal manometry and a rectal suction biopsy. Treatment options include botulism, toxin injections, and posterior internal anal sphincter myectomy. Botulism injections offer temporary relief, while myectomy provides long-term improvement.
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Affiliation(s)
- Farah Slaczka
- Pediatric Surgery, Trinity School of Medicine, Warner Robins, USA
| | | | - Mateusz Slaczka
- Pediatric Surgery, Trinity School of Medicine, Warner Robins, USA
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Friedmacher F, Rolle U. Interstitial cells of Cajal: clinical relevance in pediatric gastrointestinal motility disorders. Pediatr Surg Int 2023; 39:188. [PMID: 37101012 PMCID: PMC10133055 DOI: 10.1007/s00383-023-05467-1] [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] [Accepted: 04/03/2023] [Indexed: 04/28/2023]
Abstract
Interstitial cells of Cajal (ICCs) are pacemaker cells of gastrointestinal motility that generate and transmit electrical slow waves to smooth muscle cells in the gut wall, thus inducing phasic contractions and coordinated peristalsis. Traditionally, tyrosine-protein kinase Kit (c-kit), also known as CD117 or mast/stem cell growth factor receptor, has been used as the primary marker of ICCs in pathology specimens. More recently, the Ca2+-activated chloride channel, anoctamin-1, has been introduced as a more specific marker of ICCs. Over the years, various gastrointestinal motility disorders have been described in infants and young children in which symptoms of functional bowel obstruction arise from ICC-related neuromuscular dysfunction of the colon and rectum. The current article provides a comprehensive overview of the embryonic origin, distribution, and functions of ICCs, while also illustrating the absence or deficiency of ICCs in pediatric patients with Hirschsprung disease intestinal neuronal dysplasia, isolated hypoganglionosis, internal anal sphincter achalasia, and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome.
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Affiliation(s)
- Florian Friedmacher
- Department of Paediatric Surgery and Paediatric Urology, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany
| | - Udo Rolle
- Department of Paediatric Surgery and Paediatric Urology, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany.
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Abstract
Patients with Hirschsprung disease (HD) can struggle with persistent obstructive symptoms even after a successful pull-through. These symptoms lead to stasis of stool and can result in Hirschsprung associated enterocolitis (HAEC). Recurrent episodes of HAEC warrant further workup; if there are no signs of mechanical obstruction or an aganglionic pull-through, the use of botulinum toxin injections to the internal anal sphincter has been utilized to relieve these symptoms. In this review, we describe the variations in botulinum toxin injection use and describe ongoing studies to prevent obstructive symptoms and Hirschsprung-associated enterocolitis (HAEC). Botulinum toxin injection utilization has been described for obstructive symptoms after HD pull-through, in the setting of active HAEC, and has been proposed to be part of the treatment algorithm for prevention of HAEC after pull-through. Dosing utilized for the injections, along with the complications, are also described. Prospective, multi-institutional trials are needed to identify the effectiveness of botulinum toxin injections in the outpatient/prophylactic setting as current data suggest some benefits in preventing future obstructive symptoms; however, other studies have conflicting results.
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6
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Xie C, Yan J, Guo J, Liu Y, Chen Y. Comparison of clinical features and prognosis between ultrashort-segment and short-segment hirschsprung disease. Front Pediatr 2022; 10:1061064. [PMID: 36683811 PMCID: PMC9853069 DOI: 10.3389/fped.2022.1061064] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/04/2022] [Accepted: 12/09/2022] [Indexed: 01/08/2023] Open
Abstract
OBJECTIVE To compare the differences in clinical features, postoperative complications, and long-term bowel function outcomes of ultrashort-segment Hirschsprung disease (USHD) and short-segment Hirschsprung disease (SHD). METHODS A retrospective study was conducted to compare patients with USHD or SHD who underwent transanal endorectal pull-through (TEPT) at Beijing Children's Hospital between January 2014 and June 2021. Clinical details were collected from medical records. A long-term bowel function questionnaire (age > 4 years old) was completed by the patients' parents. RESULTS A total of 84 patients (USHD = 15, SHD = 69) were included. Age at diagnosis and radical surgery in the USHD group were significantly older than the SHD group (46 [38, 66] vs. 34 [6, 55] months, p = 0.002; 51 [39, 68] vs. 37 [10, 68] months, p = 0.001, respectively). Compared with the SHD group, patients with USHD are more likely to suffer anastomosis leakage and postoperative enterocolitis after TEPT ([3/15, 33.3%] vs. [1/69, 1.4%], p = 0.017; [5/15, 33.3%] vs. [6/69, 8.7%], p = 0.023). In addition, patients in the USHD group are inclined to suffer lower bowel function scores (12.0 [7.5, 18.3] vs. 17 [15, 19], p = 0.018).Patients in the USHD group were more likely to suffer poorer ability to hold back defecation (p = 0.023), soiling (p = 0.011), fecal accidents (p = 0.004), and social problems (p = 0.004). CONCLUSION Compared with patients with SHD, patients with USHD are diagnosed and performed TEPT at an older age. and they are inclined to suffer postoperative enterocolitis, anastomosis leakage, and poorer long-term bowel function following TEPT.
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Affiliation(s)
- Chuanping Xie
- Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
| | - Jiayu Yan
- Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
| | - Jianlin Guo
- Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
| | - Yakun Liu
- Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
| | - Yajun Chen
- Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
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7
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Demehri FR, Dickie BH. Reoperative techniques and management in Hirschsprung disease: a narrative review. Transl Gastroenterol Hepatol 2021; 6:42. [PMID: 34423163 DOI: 10.21037/tgh-20-224] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/18/2020] [Accepted: 08/12/2020] [Indexed: 11/06/2022] Open
Abstract
The majority of children who undergo operative management for Hirschsprung disease have favorable results. A subset of patients, however, have long-term dysfunctional stooling, characterized by either frequent soiling or obstructive symptoms. The evaluation and management of a child with poor function after pull-through for Hirschsprung disease should be conducted by an experienced multidisciplinary team. A systematic workup is focused on detecting pathologic and anatomic causes of pull-through dysfunction. This includes an exam under anesthesia, pathologic confirmation including a repeat biopsy, and a contrast enema, with additional studies depending on the suspected etiology. Obstructive symptoms may be due to technique-specific types of mechanical obstruction, histopathologic obstruction, or dysmotility-each of which may benefit from reoperative surgery. The causes of soiling symptoms include loss of the dentate line and damage to the anal sphincter, which generally do not benefit from revision of the pull-through, and pseudo-incontinence, which may reveal underlying obstruction. A thorough understanding of the types of complications associated with various pull-through techniques aids in the evaluation of a child with postoperative dysfunction. Treatment is specifically tailored to the patient, guided by the etiology of the patient's symptoms, with options ranging from bowel management to redo pull-through procedure. This review details the workup and management of patients with complications after pull-through, with a focus on the perioperative management and technical considerations for those who require reoperation.
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Affiliation(s)
- Farokh R Demehri
- Department of Surgery, Boston Children's Hospital, Boston, MA, USA
| | - Belinda H Dickie
- Department of Surgery, Boston Children's Hospital, Boston, MA, USA
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8
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Baaleman DF, Malamisura M, Benninga MA, Bali N, Vaz KH, Yacob D, Di Lorenzo C, Lu PL. The not-so-rare absent RAIR: Internal anal sphincter achalasia in a review of 1072 children with constipation undergoing high-resolution anorectal manometry. Neurogastroenterol Motil 2021; 33:e14028. [PMID: 33301220 PMCID: PMC8047870 DOI: 10.1111/nmo.14028] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/22/2020] [Revised: 09/21/2020] [Accepted: 10/16/2020] [Indexed: 01/01/2023]
Abstract
BACKGROUND Our objective is to describe the prevalence of patients with internal anal sphincter achalasia (IASA) without Hirschsprung disease (HD) among children undergoing anorectal manometry (ARM) and their clinical characteristics. METHODS We performed a retrospective review of high-resolution ARM studies performed at our institution and identified patients with an absent rectoanal inhibitory reflex (RAIR). Clinical presentation, medical history, treatment outcomes, and results of ARM and other diagnostic tests were collected. We compared data between IASA patients, HD patients, and a matched control group of patients with functional constipation (FC). KEY RESULTS We reviewed 1,072 ARMs and identified 109 patients with an absent RAIR, of whom 28 were diagnosed with IASA. Compared to patients with FC, patients with IASA had an earlier onset of symptoms and were more likely to have abnormal contrast enema studies. Compared to patients with HD, patients with IASA were more likely to have had a normal timing of meconium passage, a later onset of symptoms, and were diagnosed at an older age. At the latest follow-up, the majority of patients diagnosed with IASA (54%) were only using oral laxatives. Over half of patients with IASA had been treated with anal sphincter botulinum toxin injection, and 55% reported a positive response. CONCLUSIONS AND INFERENCES Patients diagnosed with IASA may represent a more severe patient population compared to patients with FC, but have a later onset of symptoms compared to patients with HD. They may require different treatments for their constipation and deserve further study.
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Affiliation(s)
- Desiree F. Baaleman
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
- Department of Pediatric Gastroenterology and NutritionEmma Children’s Hospital, Amsterdam UMCUniversity of Amsterdam & VU UniversityAmsterdamthe Netherlands
- Amsterdam UMCUniversity of Amsterdam, Gastroenterology and HepatologyAmsterdam Gastroenterology Endocrinology MetabolismAmsterdamthe Netherlands
| | - Monica Malamisura
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
- Digestive endoscopy and surgery UnitBambino Gesù Children’s Hospital IRCCSRomeItaly
| | - Marc A. Benninga
- Department of Pediatric Gastroenterology and NutritionEmma Children’s Hospital, Amsterdam UMCUniversity of Amsterdam & VU UniversityAmsterdamthe Netherlands
| | - Neetu Bali
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
| | - Karla H. Vaz
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
| | - Desale Yacob
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
| | - Carlo Di Lorenzo
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
| | - Peter L. Lu
- Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsNationwide Children’s HospitalColumbusOHUSA
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Abstract
Hirschsprung disease (HSCR) is conventionally defined as aganglionosis of the distal rectum and a variable length of proximal contiguous bowel with a transition zone of ganglionic, but neuroanatomically abnormal, bowel located immediately upstream. Recent improvement in our understanding of the pathology and genetics of HSCR and relevant animal models indicates highly variable expressivity. The spectrum of intestinal neuropathology includes patients with very short-segment aganglionosis, limited to the distal 1 to 2 cm of the rectum, and possibly patients with no true aganglionic segment, but nonphysiological transition zone pathology in their distal rectums. The presence or absence of submucosal ganglion cells in a rectal biopsy is not sufficient to exclude these patients, in whom submucosal nerve hypertrophy and/or abnormal cholinergic mucosal innervation may be the only diagnostic clues. In addition, diagnosis or exclusion of HSCR by rectal biopsy now relies in part on mucosal patterns of calretinin immunohistochemistry, with less emphasis on submucosal tissue adequacy and assessment of cholinergic innervation. These recent trends in the surgical pathology approach to rectal biopsies may miss patients at the phenotypically milder end of the malformation spectrum, with profound implications for subsequent management, prognosis, and genetic counseling.
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Affiliation(s)
- Raj P Kapur
- Department of Pathology, Seattle Children's Hospital and the University of Washington, Seattle, Washington
| | - Lusine Ambartsumyan
- Department of Gastroenterology, Seattle Children's Hospital and the University of Washington, Seattle, Washington
| | - Caitlin Smith
- Department of Surgery, Seattle Children's Hospital and the University of Washington, Seattle, Washington
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10
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Neurostimulation-guided Anal Intrasphincteric Botulinum Toxin Injection in Children With Hirschsprung Disease. J Pediatr Gastroenterol Nutr 2019; 68:527-532. [PMID: 30444834 DOI: 10.1097/mpg.0000000000002204] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
OBJECTIVES In Hirschsprung disease (HD), despite successful surgical treatment, 50% of children experience long-term functional gastrointestinal problems, particularly chronic functional obstructive symptoms. We report our experience regarding clinical effects of neurostimulation-guided anal intrasphincteric botulinum toxin (BT) injections on postoperative obstructive symptoms attributed to a nonrelaxing anal sphincter complex in HD patients. METHODS In this monocenter cohort study, 15 HD patients with postoperative functional intestinal obstructive symptoms received neurostimulation-guided anal intrasphincteric BT injections. Short-, medium-, and long-term effects were evaluated. The Bristol stool form scale was used to assess stool consistency, and the Jorge-Wexner (JW) score to assess fecal continence. RESULTS The median age at first injection was 4 years. In the short-term, a significant improvement in stool consistency was noted in 12 of 14 patients (P = 0.0001) and JW score decreased for 14 of 15 patients (P = 0.001). In the medium-term, JW score significantly decreased for all patients (P = 0.0001), with an improvement of 50% or more for 10 patients (66.7%). In the long term, 83.3% of patients had normal stool consistency and JW score was <3 for all. Recurrent enterocolitis decreased from 86.7% to 8.3%. A complete resolution of all symptoms without further medication was observed in 66.7% of patients in the long term. CONCLUSIONS Intrasphincteric BT injection was a safe, effective, and durable option for the management of postoperative functional intestinal obstructive symptoms in HD. The use of neurostimulator guidance for specific delivery of BT to muscular fibers of nonrelaxing anal sphincter complex takes into consideration the variability of patient's anatomy secondary to curative surgery.
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11
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Liu JY, Zheng ZQ, Zhao K, Luo C, Han HQ. Treatment of Adult Hirschsprung's Disease by Botulinum Toxin A through Anorectal Injection. Chin Med J (Engl) 2018; 131:3007-3008. [PMID: 30539919 PMCID: PMC6302634 DOI: 10.4103/0366-6999.247209] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/02/2022] Open
Affiliation(s)
- Jin-Yang Liu
- Department of Cardiothoracic Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
| | - Zhong-Qing Zheng
- Department of Gastroenterology, Tianjin Medical University General Hospital, Tianjin 300052, China
| | - Ke Zhao
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
| | - Chao Luo
- Department of Cardiothoracic Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
| | - Hong-Qiu Han
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
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12
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Abstract
PURPOSE OF REVIEW To overview the current medical literature on the efficacy of botulism toxin treatment (BTX-A) for lower gastrointestinal disorders (GIT). RECENT FINDINGS BTX-A was found to have a short-term efficacy for the treatment of dyssynergic defecation. Surgical treatment was found to be more effective than BTX-A for the healing of chronic anal fissures, and BTX-A can be considered when surgery is undesirable. Data regarding the effects of BTX-A injection for the treatment of chronic anal pain is limited. Beneficial effects were observed only in a minority of patients. BTX-A treatment was found to be effective for the treatment of obstructive symptoms after surgery for Hirsprung's disease as well as for the treatment of internal anal sphincter achalasia. BTX-A treatment has a short-term efficacy and is safe. Further research is still needed in order to establish the exact place of BTX-A treatment of lower GIT disorders.
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Affiliation(s)
- Dan Carter
- Department of Gastroenterology, Chaim Sheba Medical Center, Tel Hashomer, Derech Sheba 2, Ramat Gan, Israel.,Sackler Faculty of Medicine, Tel Aviv University, P.O.B 39040, 69978, Ramat Aviv, Israel
| | - Ram Dickman
- Sackler Faculty of Medicine, Tel Aviv University, P.O.B 39040, 69978, Ramat Aviv, Israel. .,Division of Gastroenterology, Rabin Medical Center, Ze'ev Jabotinsky St 39, 4941492, Petah Tikva, Israel.
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13
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Idiopathic constipation: A challenging but manageable problem. J Pediatr Surg 2018; 53:1742-1747. [PMID: 29079312 DOI: 10.1016/j.jpedsurg.2017.09.022] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/27/2017] [Revised: 09/19/2017] [Accepted: 09/20/2017] [Indexed: 12/22/2022]
Abstract
PURPOSE A protocol to treat idiopathic constipation is presented. METHODS A contrast enema is performed in every patient and, when indicated, patients are initially submitted to a "clean out" protocol. All patients are started on a Senna-based laxative. The initial dosage is empirically determined and adjusted daily, during a one week period, based on history and abdominal radiographs, until the amount of Senna that empties the colon is reached. The management is considered successful when patients empty their colon daily and stop soiling. If the laxatives dose provokes abdominal cramping, distension, and vomiting, without producing bowel movements, patients are considered nonmanageable. RESULTS From 2005 to 2012, 215 patients were treated. 121 (56%) were males. The average age was 8.2years (range: 1-20). 160 patients (74%) presented encopresis. 67 patients (32%) needed a clean out. After one week, 181 patients (84%) achieved successful management, with an average Senna dose of 67mg (range: 5-175mg). In 34 patients (16%) the treatment was unsuccessful: 19 were nonmanageable, 3 noncompliant, and 12 continued soiling. At a later follow-up (median: 329days) the success rate for 174 patients was 81%. CONCLUSION We designed a successful protocol to manage idiopathic constipation. The key points are clean out before starting laxatives, individual adjustments of laxative, and radiological monitoring of colonic emptying. TREATMENT STUDY Level IV.
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Abstract
Hirschsprung disease (HD) is a common cause of neonatal intestinal obstruction in which a variable segment of the distal intestinal tract lacks the normal enteric nervous system elements. Affected individuals present with varying degrees of obstructive symptoms, but today most patients are diagnosed within the first several months of life owing to the well-recognized symptoms and the ease of making the diagnosis by way of the bedside suction rectal biopsy. Thus, for the adult general or colorectal surgeon, the vast majority of patients who present for evaluation will have already undergone surgical treatment within the first year of life by a pediatric surgeon. Despite several safe operative interventions to treat patients with HD, the long-term results are far from perfect. These patients may reach adult life with ongoing defecation disorders that require a systematic evaluation by a multidisciplinary group that should be led by a surgeon with a thorough knowledge of HD operations and the potential problems. The evaluation of these patients will form the basis for the majority of this review-however, some patients manage to escape diagnosis beyond the infant and childhood period-and a section herein will briefly address the case of an older patient who is suspected of having HD.
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Affiliation(s)
- Casey M. Calkins
- Division of Pediatric General and Thoracic Surgery, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin
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15
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Das K, Mohanty S. Hirschsprung Disease - Current Diagnosis and Management. Indian J Pediatr 2017; 84:618-623. [PMID: 28600660 DOI: 10.1007/s12098-017-2371-8] [Citation(s) in RCA: 41] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2017] [Accepted: 05/01/2017] [Indexed: 12/21/2022]
Abstract
Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and surgical techniques. This article summarizes the current modalities of investigation and optimal surgical management of Hirschsprung disease and concludes with a reference to the Indian scenario.
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Affiliation(s)
- Kanishka Das
- Department of Pediatric Surgery, St. John's Medical College & Hospital, Bangalore, Karnataka, 560034, India.
| | - Suravi Mohanty
- Department of Pathology, St. John's Medical College, Bangalore, Karnataka, India
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16
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Pediatric Motility Disorders. CURRENT PEDIATRICS REPORTS 2017. [DOI: 10.1007/s40124-017-0137-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/19/2022]
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17
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Obata S, Fukahori S, Yagi M, Suzuki M, Ueno S, Ushijima K, Taguchi T. Internal anal sphincter achalasia: data from a nationwide survey of allied disorders of Hirschsprung's disease in Japan. Surg Today 2017; 47:1429-1433. [PMID: 28455798 DOI: 10.1007/s00595-017-1532-8] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2016] [Accepted: 03/27/2017] [Indexed: 12/01/2022]
Abstract
PURPOSE To investigate the incidence and treatment of internal anal sphincter achalasia (IASA) in Japan based on an analysis of data from a nationwide retrospective cohort study of the allied disorders of Hirschsprung's disease. METHODS Five cases of definitive IASA were collected from a nationwide retrospective cohort study conducted from 2001 to 2010 and a search of the Japanese literature. RESULTS Symptoms developed during the neonatal period in two patients, during early childhood in two, and at school age in one. Symptoms included abdominal distension with severe constipation (n = 4) and enterocolitis (n = 1). Rectocolonography showed megarectum and no narrow segment in most of the patients. All patients were negative for rectosphincteric reflex. The presence of ganglion cells was demonstrated by H&E or AChE staining from rectal mucosal biopsies or resected full-thickness segments. Two patients were treated conservatively, and three were treated surgically by internal anal sphincter myotomy (n = 2) or Lynn procedure (n = 1), with satisfactory outcomes. CONCLUSION IASA is a rare but distinct entity in Japan. Although the clinical features of IASA resemble those of short- and ultrashort-segment HD, characteristic pathological findings include the presence of ganglion cells. The outcomes of both conservative and surgical treatment are good.
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Affiliation(s)
- Satoshi Obata
- Department of Pediatric Surgery, Graduate School of Medical Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, Fukuoka, 812-8582, Japan.,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan
| | - Suguru Fukahori
- Department of Pediatric Surgery, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, 830-0011, Japan.,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan
| | - Minoru Yagi
- Department of Pediatric Surgery, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, 830-0011, Japan.,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan
| | - Makoto Suzuki
- Department of Surgery and Science, School of Medicine, Gunma University, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan
| | - Shigeru Ueno
- Department of Surgery, Pediatric Surgery, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan
| | - Kosuke Ushijima
- The Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, 830-0011, Japan.,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan
| | - Tomoaki Taguchi
- Department of Pediatric Surgery, Graduate School of Medical Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, Fukuoka, 812-8582, Japan. .,Japanese Study Group for Allied Disorders of Hirschsprung's disease, Fukuoka, Japan.
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18
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Abstract
PURPOSE There is a scarcity of literature, and prevalent misconceptions about constipation in India. METHODS A literature search in PubMed was conducted with regard to epidemiology, clinical features, and management of constipation. Special emphasis was paid to functional constipation and refractory constipation. English language studies available full text over the last 25 years were considered and relevant information was extracted. CONCLUSIONS Estimated prevalence of constipation is 3% among toddlers and pre-school children worldwide and 95%, of them are considered functional. A careful history and thorough physical examination is all that is required to diagnose functional constipation. Management includes disimpaction followed by maintenance therapy with oral laxative, dietary modification and toilet training. A close and regular follow-up is necessary for successful treatment. In most of the cases laxative needs to be continued for several months and sometimes years. Early withdrawal of laxative is the commonest cause of recurrence. Refractory constipation is less common in primary care set up. Radiological colon transit study is useful in picking up Slow transit constipation. Antegrade continence enema plays an important role in the management of slow transit constipation.
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Church JT, Gadepalli SK, Talishinsky T, Teitelbaum DH, Jarboe MD. Ultrasound-guided intrasphincteric botulinum toxin injection relieves obstructive defecation due to Hirschsprung's disease and internal anal sphincter achalasia. J Pediatr Surg 2017; 52:74-78. [PMID: 27836361 DOI: 10.1016/j.jpedsurg.2016.10.023] [Citation(s) in RCA: 25] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/01/2016] [Accepted: 10/20/2016] [Indexed: 12/17/2022]
Abstract
PURPOSE Chronic obstructive defecation can occur in patients with Hirschsprung Disease (HD) and internal anal sphincter (IAS) achalasia. Injection of Botulinum Toxin (BoTox) into the IAS can temporarily relieve obstructive defecation, but can be challenging when performed by tactile sense alone. We compared results of BoTox injections with and without ultrasound (US) guidance. METHODS We retrospectively reviewed BoTox injections into the IAS for obstructive defecation over 5years. Analyzed outcomes included short-term improvement, defined as resolution of enterocolitis, new ability to spontaneously defecate, and/or normalization of bowel movement frequency 2weeks post-operatively, as well as requirement of more definitive surgical therapy (myotomy/myomectomy, colectomy, colostomy, cecostomy/appendicostomy, and/or sacral nerve stimulator implantation). Outcomes were compared using t-test and Fisher's Exact test, with significance defined as p<0.05. RESULTS Twelve patients who underwent BoTox injection were included, including 5 patients who underwent injections both with and without ultrasound. Ten underwent an ultrasound-guided injection (13 injection procedures), 5 of whom had HD. Seven underwent an injection without ultrasound guidance (17 injection procedures), 5 of whom had HD. Procedures performed with US resulted in greater short-term improvement (76% versus 65% without ultrasound) and less requirement of a definitive procedure for obstructive defecation (p<0.05). CONCLUSIONS US-guided BoTox injection is safe and effective for obstructive defecation, and may decrease the need for a definitive operation. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Joseph T Church
- Department of Surgery, Section of Pediatric Surgery, University of Michigan Health System, Ann Arbor, USA.
| | - Samir K Gadepalli
- Department of Surgery, Section of Pediatric Surgery, University of Michigan Health System, Ann Arbor, USA
| | - Toghrul Talishinsky
- Department of Surgery, Section of Pediatric Surgery, University of Michigan Health System, Ann Arbor, USA
| | - Daniel H Teitelbaum
- Department of Surgery, Section of Pediatric Surgery, University of Michigan Health System, Ann Arbor, USA
| | - Marcus D Jarboe
- Department of Surgery, Section of Pediatric Surgery, University of Michigan Health System, Ann Arbor, USA
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20
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Arbizu RA, Rodriguez L. Use of Clostridium botulinum toxin in gastrointestinal motility disorders in children. World J Gastrointest Endosc 2015; 7:433-437. [PMID: 25992183 PMCID: PMC4436912 DOI: 10.4253/wjge.v7.i5.433] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/29/2014] [Revised: 12/06/2014] [Accepted: 02/11/2015] [Indexed: 02/05/2023] Open
Abstract
More than a century has elapsed since the identification of Clostridia neurotoxins as the cause of paralytic diseases. Clostridium botulinum is a heterogeneous group of Gram-positive, rod-shaped, spore-forming, obligate anaerobic bacteria that produce a potent neurotoxin. Eight different Clostridium botulinum neurotoxins have been described (A-H) and 5 of those cause disease in humans. These toxins cause paralysis by blocking the presynaptic release of acetylcholine at the neuromuscular junction. Advantage can be taken of this blockade to alleviate muscle spams due to excessive neural activity of central origin or to weaken a muscle for treatment purposes. In therapeutic applications, minute quantities of botulinum neurotoxin type A are injected directly into selected muscles. The Food and Drug Administration first approved botulinum toxin (BT) type A in 1989 for the treatment of strabismus and blepharospasm associated with dystonia in patients 12 years of age or older. Ever since, therapeutic applications of BT have expanded to other systems, including the gastrointestinal tract. Although only a single fatality has been reported to our knowledge with use of BT for gastroenterological conditions, there are significant complications ranging from minor pain, rash and allergic reactions to pneumothorax, bowel perforation and significant paralysis of tissues surrounding the injection (including vocal cord paralysis and dysphagia). This editorial describes the clinical experience and evidence for the use BT in gastrointestinal motility disorders in children.
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21
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Wang J, Tan N, Xiao Y, Chen J, Chen B, Ma Z, Zhang D, Chen M, Cui Y. Safety and efficacy of the modified peroral endoscopic myotomy with shorter myotomy for achalasia patients: a prospective study. Dis Esophagus 2014; 28:720-7. [PMID: 25214469 DOI: 10.1111/dote.12280] [Citation(s) in RCA: 47] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
Peroral endoscopic myotomy (POEM) has been developed as a minimally invasive endoscopic treatment for achalasia for years. However, the optimal length of submucosal tunnel and myotomy of muscle bundles during procedure of POEM has not yet been determined, so we aim to assess safety and efficacy of modified POEM with shorter myotomy of muscle bundles in achalasia patients. Consecutive achalasia patients had been performed modified POEM with shorter myotomy, and assessed by symptoms, high-resolution manometry, and barium swallow examinations before and 3 months after POEM for safety and efficacy evaluation. Modified POEM with shorter submucosal tunnel (mean length 6.8 cm) and endoscopic myotomy of muscle bundles (total mean length 5.4 cm) were completed in 46 consecutive achalasia patients. During the 3-month follow up in all cases, significant improvement of symptoms (a significant drop in the Eckardt score 8.4 ± 3.2 vs. 2.7 ± 1.9; P < 0.001), decreased lower esophageal sphincter pressure (39.4 ± 10.1 vs. 24.4 ± 9.1 mmHg; P < 0.001) and integrated relaxation pressure (38.6 ± 10.4 vs. 25.7 ± 9.6 mmHg; P < 0.01), and a drop in height of esophagus barium-contrast column (5.4 ± 3.1 vs. 2.6 ± 1.8 cm; P < 0.001) were observed. The frequencies of adverse events were lower in those under endotracheal anesthesia and CO2 insufflations compared with intravenous anesthesia and air insufflations. Only three patients were found to have gastroesophageal reflux disease on follow up. Modified POEM with shorter myotomy under endotracheal anesthesia and CO2 insufflations shows its good safety and excellent short-term efficacy in the treatment of achalasia. But further studies are warranted to assess the long-term efficacy.
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Affiliation(s)
- J Wang
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - N Tan
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Y Xiao
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - J Chen
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - B Chen
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Z Ma
- Digestive Department, Shantou Central Hospital, Shantou, Guangdong, China
| | - D Zhang
- Digestive Department, Shenzhen People's Hospital, Shenzhen, Guangdong, China
| | - M Chen
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Y Cui
- Department of Gastroenterology and Hepatology, and Endoscopy Center, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China
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22
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Basson S, Charlesworth P, Healy C, Phelps S, Cleeve S. Botulinum toxin use in paediatric colorectal surgery. Pediatr Surg Int 2014; 30:833-8. [PMID: 24997611 DOI: 10.1007/s00383-014-3536-4] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/18/2014] [Indexed: 12/15/2022]
Abstract
PURPOSE To evaluate outcomes of intrasphincteric botulinum toxin injection (ISBTI) in children with intractable constipation. METHODS Retrospective case-note review of patients ≤ 16 years of age undergoing ISBTI between January 2010 and February 2014. Data collected included patient demographics, diagnosis, complications, follow-up duration and functional outcomes. Successful outcome was defined as resolution/improvement in symptoms and failed when there was no change in symptoms. Statistical analyses were performed using PRISM (GraphPad, CA, USA). p values <0.05 were considered as significant. RESULTS 43 patients [male 29, median age 5 years 9 months (range 13 months-13 years 5 months)] underwent 86 ISBTIs. Underlying diagnoses were idiopathic constipation (67 %), Hirschsprung disease (26 %), anorectal malformation (5 %), gastrointestinal dysmotility (2 %). 72 % (31/43) reported improvement in symptoms after the first ISBTI. 39 % of patients had recurrence of symptoms at 12-month median follow-up. 10 patients non-responsive to ISBTI required an antegrade continence enema or stoma. There was no correlation between age (p = 0.3), gender (p = 0.7), diagnosis (p = 0.84), or number of ISBTIs (p = 0.17) with successful outcome. CONCLUSION Successful outcomes occurred in 72 % patients after the first ISBTI. 25 % required further surgical management of their symptoms. Further work is required to help predict which patients will benefit from ISBTI.
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Affiliation(s)
- S Basson
- Department of Paediatric Surgery, The Royal London Hospital, Whitechapel, London, E1 1BB, UK
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23
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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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