Hirschsprungs disease hd is a disorder that involves several medical specialties such as paediatric gastroenterology, paediatric surgery, and pathology. Hirschsprungs disease causes and treatment patient. As a consequence, ganglion cells are missing from the auerbach myenteric plexus, the henle plexus, and at the meissner plexus. The book progresses from discussions of the physiology and pathology of gut innervation, through clinical aspects of hirschsprungs disease, to surgical techniques and their results and complications, and finally to long term outcomes. Hirschsprungs disease australia pdf ppt case reports. Their is congenital absence of parasympathetic ganglion cells normally found in the intermuscular and submucosal nerve plexus of the intestinal wall.
In a child with hirschsprung disease, stool moves through the bowel until it reaches the part lacking nerve cells. Once diagnosed, antibiotics andor rectal irrigations may be used to treat the issue. In definitive pull through andor resectioned cases in the operating room, the surgeon may send full thickness colorectal wall biopsies to establish the level of aganglionosis. Because the ens controls most aspects of bowel function, even a short region of bowel without neurons and glia i. Hirschsprungs disease and allied disorders pp 185197 cite as. Hirschsprungs disease hd is one of the most common congenital anomalies of colorectal function, affecting approximately 1 in 5000 live births, with a 4. Hirschsprungs disease is currently regarded as a genetic disorder with a complex pattern of inheritance. Harald hirschsprung described this condition as congenital megacolon in 1886 3,4. Utility of image processing and analysis ipa for diagnosis of very short segment hirschsprung disease vshd. Hd is characterized by aganglionosis that is most often limited to the rectosigmoid, but can extend proximally along the colon and, in rare instances, reach into the small intestine.
In many cases, this is a problem within the first day or two after the baby is born. Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a childs bowel. Novel insights into the pathogenesis of hirschsprungs. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. However, for children with downs syndrome there is a 40% increased risk of hirschsprungs disease occurring. The editors have invited distinguished authors and experts from around the world to contribute, resulting in an updated, comprehensive, and authoritative book that covers. In 4 cases hirschsprungs disease was suggested as the initial diagnosis, but was not. Pediatr dev pathol off j soc pediatr pathol paediatr pathol soc 151. Signs and symptoms are due to the lack of the nerves in the intestine which trigger the muscle contractions that move stool through the intestine.
Our aims were to determine the validity of using lowosmolality watersoluble contrast enemas wsce in neonates and infants with suspected hirschsprungs disease hd and to devise a scoring system that uses a checklist of radiologic signs to determine the probability of hd. The lack of ganglion cells is in the myenteric plexus auerbachs plexus, which is responsible for moving food in the intestine. This is the surest way to identify hirschsprung s disease. Hirschsprungs disease american college of surgeons.
Hirschsprungs disease is present when a baby is born congenital and results from missing nerve cells in the muscles of part or all of the babys colon. Digital pathology imaging and computeraided diagnostics as a novel tool for standardization of evaluation of aganglionic megacolon hirschsprung disease histopathology florian schilling, carol. The symptoms from hirschsprungs disease come from poo getting stuck, and the effects that brings. The basic pathological feature of hscr is the absence of ganglion cells in the distal bowel, which results in the functional obstruction manifesting. Hirschsprung disease is now known to have an incidence of 1. Download fulltext pdf download fulltext pdf late diagnosis of hirschsprungs disease article pdf available in journal of coloproctology 53 may 2015 with 176 reads. Understanding hirschsprungs disease parents and carers. The primary pathology of hirschsprungs disease hscr, colon aganglionosis is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. Hirschsprungs disease one per 5,0001,2 see table 1 anorectal malformation one per 4,000 to 8,000 anal fistula or an absent anus small left colon syndrome rare transition zone at the. Hirschsprungs disease hd or hscr is a birth defect in which nerves are missing from parts of the intestine. Hirschsprung disease for parents nemours kidshealth. Plain abdominal radiograph showing a transition zone partz at the rectosigmoid. Practical pathology and genetics of hirschsprungs disease. Hirschsprung disease integrating basic science and.
A biopsy sample can be collected using a suction device, then examined under a microscope to determine whether nerve cells are missing. The fourth edition of this leading book provides an authoritative, comprehensive and complete account of the neuronal disorders of the lower gastrointestinal tract in children. For most people, hirschsprung s disease is treated with surgery to bypass the. Diagnosis of hirschsprungs disease with particular emphasis. Hirschsprung s hirshsproongz disease is a condition that affects the large intestine colon and causes problems with passing stool. It has been fully updated to reflect major advances in the understanding and the treatment of hirschprungs disease. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. May, 2020 hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. For the vast majority of people with hirschsprungs disease, symptoms usually begin within the first 6 weeks of life. Hirschsprungs disease results from the absence of ganglion cells in the. Hirschsprung s disease and allied disorders is the third edition of a comprehensive study of the neuronal disorders of the lower gastrointestinal tract in children important new studies and progress in research on bowel motility and motility disorders are covered in detail as well as new aspects concerning the embryology, functional anatomy of the enteric nervous. Hirschsprung s disease, also known as congenital megacolon or aganglionic megacolon, is an abnormality in which certain nerve fibers are absent in segments of the bowel, resulting in severe bowel obstruction. Jul 31, 2009 immunohistochemical study of neuron specific enolase and s100 protein in hirschsprungs disease. Hirschsprung disease is a serious and potentially fatal condition affecting the enteric nervous system and defined by the absence of enteric neurons in the distal bowel.
Some investigators believe zonal colonic aganglionosis is not true hirschsprung disease but due to in utero injury. Hirschsprungs disease hscr was first described by harald hirschsprung a century ago. Rectal biopsy for hirschsprungs disease world journal of. Meierruge w, bruder e 2005 pathology of chronic constipation in pediatric and adult. Cc2016 poster competition hirschsprungs disease 35. Hirschsprungs disease diagnosis and treatment mayo clinic. He thought that the colonic dilatation was the cause of the problem, although the actual pathology was in the distal contracted segment. Hirschsprungs disease is the commonest cause of neonatal intestinal obstruction. This condition is usually identified in the first two months of life, although less. Sep 04, 2017 hirschsprung disease hscr is a disease of the large intestine or colon. Histopathological diagnosis and differential diagnosis of. Hirschsprungs disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation. Jci hirschsprungs disease, down syndrome, and missing.
Oldham kt, colombani pm, foglia r eds surgery of infants and children. Hirschsprungs hirshsproongz disease is a condition that affects the large intestine colon and causes problems with passing stool. Normally, the bowel continuously squeezes and relaxes to push poo along, a process controlled by your nervous system. Embryogenesis of intramural ganglia of the gut and its relation to hirschsprung s disease. Hirschsprungs disease, rectal biopsy, pathology, ganglion cell, nerve trunk hypertrophy, pediatric constipation, and selected publications written. Hirschsprungs disease occurs about once in every 5,000 babies born. Short segment, long segment, total colonic and panintestinal forms as defined above. Hirschsprungs disease is a common cause of neonatal intestinal obstruction and one of the most important and most fascinating diseases in pediatric surgery. The pathologists goals in analyzing resected aganglionic gut from an hscr patient are to confirm the diagnosis of hscr, map the transitional zone, and assess the integrity of the nervous system at the proximal end of the resection. Despite its success the swenson procedure was an extensive and difficult operation that had a high mortality when. Hirschsprungs disease is a common cause of neonatal intestinal obstruction and one of the most important and most fascinating diseases in. In most instances, inadequate biopsies contain too little submucosa or are taken within the anal transition zone. Hirschsprung disease hscr, or congenital intestinal aganglionosis, is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To examine the utility of calretinin stain in the workup of inadequate biopsies for patients with clinical suspicion of hirschsprung disease.
Hayes and colleagues found that a single rectal suction biopsy can exclude a diagnosis of hirschsprung disease 65% of the time. Removing a sample of colon tissue for testing biopsy. It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys. Hirschsprungs disease is the congenital absences of ganglion cells in the rectum and the lack of these cells causes an obstruction of the large bowel. According to the length of the intestinal segment that. Hirschsprung disease prevents bowel movements stool from passing through the intestines due to missing nerve cells in the lower part of the colon. An increase in adrenergic and cholinergic nerves is associated in the aganglionic segment. Hirschsprungs disease and allied disorders springerlink. The condition is present at birth congenital as a result of missing nerve cells in the muscles of the baby s colon. Anatomic pathology of hirschsprung disease springerlink. Conventional diagnostic methods are insufficient for. Hirschsprungs disease was named after the name of dr. Diagnosis of hirschsprungs disease with particular. May 10, 2014 hirschsprungs disease also called intestinal aganglionosis.
The incidence of hscr is 15000 in live born infants. Acquired aganglionosis following surgery for hirschsprung s disease. Hirschsprungs disease in neonates with special reference. Oct 18, 2014 hirschsprungs disease hd is a disorder that involves several medical specialties such as paediatric gastroenterology, paediatric surgery, and pathology.
Newborn male fullterm, uncomplicated vaginal delivery normal birth weight. Hirschsprung disease overview archived chapter, for. Clinical relevance of postresection pathology analysis of hirschsprungs disease resections. This disease cannot be passed in the air but it can be passed on in your genes when you have a baby. These babies may present at birth a delay to pass meconium a dark green poop in newborns for more 24 hours or have abnormal bowel movements associated with abdominal distention and vomiting.
Hirschsprungs disease and the allied disorders status quo. Utility of image processing and analysis ipa for diagnosis of very. Hirschsprungs disease is a congenital condition characterized by dilatation and hypertrophy of colon due to absence aganglionosis or marked reduction hypoganglionosis of ganglion cells of the myenteric plexus of the rectum and a varying. In order to identify ganglion cells, one of two types of biopsies will be received full thickness colorectal wall biopsies. Hirschsprung disease and use of calretinin in inadequate. Hirschsprungs disease has many modes of presentation varying from. It was first identified in 1886 by a physician named harold hirschsprung. So there is constipation ie no poo is passed, or it is passed with extreme difficulty. Up to 17% of all rectal suction biopsies performed in the evaluation of hirschsprung disease are considered inadequate. Important new studies and progress in research on bowel motility and motility disorders are covered in detail as well as new aspects concerning the embryology, functional anatomy. Hirschsprung disease hscr is a congenital disease resulting from failure of neural crestderived ganglion cells to colonize the colon. Despite extensive research, the pathophysiology of hd is not fully understood. In 80% of individuals, aganglionosis is restricted.
Symptoms usually become apparent in the first two months of life. Hirschsprung disease hscr is a congenital malformation of the enteric nervous system with many associated pathological features in addition to aganglionosis. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation. Diagnosis of hirschsprungs disease with particular emphasis on histopathology. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction. Eleven definitive resection materials from 10 hirschsprungs disease patients and 3 initial fullthickness rectal biopsies of these patients were retrieved from the pathology archives. Hirschsprung disease is the most common cause of neonatal colonic obstruction 1520%.
Complications in hirschsprungs disease jurgen schleef1, damiana olenik2 hirschsprungs disease hd is a rare disease affecting in most cases the distal part of the large bowel. The seventh case was roentgenographically considered to have psychogenic megacolon, but was found to have a short segment type hirschsprungs disease by biopsy. Request pdf hirschsprungs disease pathology hirschsprungs disease is a wellestablished congenital motility disorder, characterized by functional bowel obstruction. Increased mhc class ii antigens have been found in the aganglionic segment and some investigators believe that in some cases, the disease may have an immune mediated component clinical features the most common presentation is delayed passage of meconium associated with abdominal distension and anal tightness in the first 1 2 days of life. Symptoms of hirschsprungs disease usually show up in very young children but can sometimes show up in older children or teenagers. Within this framework, the second edition of hirschsprungs disease and allied disorders by holschneider and puri is a welcome and timely addition to the existing literature. Hirschsprungs disease hscr1 is a common condition 1 in 5,000 live births resulting in intestinal obstruction in neonates2 and megacolon in infants and adults3. The book has been thoroughly revised and updated to reflect major advances that have occurred both in the understanding as well as the treatment of hirschsprungs disease.
Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with hirschsprung disease. Hirschsprungs enterocolitis is a dangerous condition that can affect children with hirschsprungs disease before andor after surgery. Novel association of severe neonatal encephalopathy and hirschsprung disease in a man with a duplication at the xq28 region bmc med genet 2010. Children with other congenital conditions, such as down syndrome and heart defects, are more likely to have the disease. Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric nervous system. Mutations of the ret protooncogene in hirschsprungs disease. Coe a, collins mh, lawal t, louden e, levitt ma, pena a 2012 reoperation for hirschsprung disease. Hirschsprungs disease symptoms and causes mayo clinic. Hirschsprungs disease childrens hospital pittsburgh. Normally, the large intestine moves digested material through the gut by a series of contractions called peristalsis. The basic pathophysiological feature in hirschsprungs disease hd is a functional obstruction caused by a narrowed distal aganglionic colonic segment that prevents the propagation of peristaltic waves.
In 2 cases the lesion was initially called meconium plug syndrome, but was aganglionosis. Feb 12, 2011 hirschsprungs disease hscr is a group of disorders characterised by a lack of propulsive peristalsis in the distal colon resulting from an absence of ganglion cells in the wall submucosal and myenteric. Hirschsprungs disease is a rare condition that causes poo to become stuck in the bowels. Hirschsprungs disease one per 5,0001,2 see table 1 anorectal malformation one per 4,000 to 8,000 anal fistula or an absent anus small left colon syndrome rare transition zone at the splenic. May, 2020 reliability of intraoperative frozen sections in the management of hirschsprung s disease. Several cases of familial hirschsprung s disease have been linked to mutations of the endothelin receptorb endrb gene. Hirschsprungs disease is a congenital bowel innervation disorder characterised by the absence of ganglion cells in myenteric auerbach and submucosal meissner plexus in the distal colon. The condition is present at birth congenital as a result of missing nerve cells in the muscles of the babys colon. The post operatively course can be complicated by surgical and non surgical complications. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. The list of types of hirschsprung s disease mentioned in various sources includes.
Hirschsprungs disease and devised an effective surgical approach, other surgeons devised successful operations that addressed some of the difficulties posed by his procedure. The diagnosis is generally established by an experienced pathologist based on histopathological studies of rectal biopsies. As far as histology is concerned, the basic criterion of hd diagnosis is the lack of ganglion cells in the submucosal or intramuscular nerve plexus. Hirschsprung disease hd is a motor disorder of the gut, which is caused by the failure of neural crest cells precursors of enteric ganglion cells to migrate completely during intestinal development during fetal life. Different surgical techniques are described in the literature. Hirschsprungs disease hscr is a deadly birth defect in which the enteric nervous system ens is missing from the end of the bowel 1, 2. Calretinin and acetylcholinesterase stains aid in identifying. Hirschsprungs disease and allied disorders, 2nd ed. Megacolon is a condition in which part or the whole of the intestine is hypertrophied, dilated and filled with faeces. Hirschsprungs disease neurogenic form of intestinal obstruction absence of ganglion cells in the myenteric and submucosal plexus failure in relaxation of the internal anal sphincter and affected bowel upstream bowel becomes dilated secondary to functional obstruction. Proposed recommendations and guidelines for diagnosis of. Dec 08, 2007 hirschsprung s disease and allied disorders is the third edition of a comprehensive study of the neuronal disorders of the lower gastrointestinal tract in children. Hirschsprungs disease and allied disorders prem puri.
This book provides essential information on the status quo and changing profile of hirschsprungs disease and allied disorders. Classic hirschsprung disease invariably includes aganglionosis of the distal rectum and variable length of contiguous bowel. Symptoms of hirschsprung disease usually start in very young children, but may occur later. Hirschsprung s disease and allied disorders is the third edition of a comprehensive study of the neuronal disorders of the lower gastrointestinal tract in children. This condition occurs when the nerves in the intestine enteric nerves do not form properly during development before birth embryonic development. Hirschsprung s disease is present when a baby is born congenital and results from missing nerve cells in the muscles of part or all of the babys colon. Hirschsprungs disease and allied disorders is the third edition of a comprehensive study of the neuronal disorders of the lower gastrointestinal tract in children. Plain abdominal radiograph showing a partz at the midsigmoid. Diagnosis of hirschsprungs disease with particular emphasis on. Absence of enteric ganglia causes a loss of intrinsic excitatory and inhibitory innervation. The style of the book is similar to the first edition published in 1982. Hirschsprung disease an overview sciencedirect topics.
Harold hirschsprung, who first gave the description of the disease. In many cases, there are signs within the first 48 hours. Ntn seen only with ret mutations, gdnf, edn3, ece1, sox10, phox2b, zfhx1b, l1cam, and 7dhcr. Singlestage versus multistage pullthrough for hirschsprung s disease. Important new studies and progress in research on bowel motility and motility disorders are covered in detail as well as new aspects concerning the embryology, functional anatomy of the enteric nervous system. The aganglionic segment includes the distal rectum and a variable length of contiguous proximal intestine. The incidence is 1 in 5000 live births and it affects more boys than girls. Management of hirschsprung s disease with reference to onestage pullthrough without colostomy. Pdf diagnosis of hirschsprungs disease with particular emphasis. Pathophysiology of hirschsprungs disease springerlink. Hirschsprungs means that most or all of the large bowel is affected. Mediakit reprints and eprints sponsored supplements branded books. Hirschsprungs disease and the allied disorders status. Hirschsprungs disease affects about one in every 5,000 newborns.
268 1639 102 383 706 650 1079 1343 263 860 231 1428 1077 167 1671 354 356 1632 1452 271 111 989 541 376 1079 543 604 679 296 217 638 1194 650 579 1012 4 641 528 1108 761 1426 228 11 25