Hirschsprung s disease hd is a relatively common congenital disease that could be suspected by clinical symptoms, abdominal plain xray, and finally diagnosed by rectal biopsy. In 2016, a particular and noteworthy anniversary recurs that will probably have enormous impact to clinical pediatrics, pediatric surgery, and pediatric pathology. Constipation is a common symptom in infants and young children who are seen by primary care physicians. Hirschsprung disease diagnosis operative procedures laparoscopy surgical stomas. Harald hirschsprung 18301916, a danish pediatrician, first described hirschsprungs disease or congenital megacolon about one and half century ago. In short segment disease, there is a significant predilection for males m. Hirschsprung s disease hscr is a congenital malformation defined as the absence of ganglion cells in the myenteric and submucosal plexuses of the terminal rectum more proximal bowel.
Despite extensive research, the pathophysiology of hd is not fully understood. Absence of enteric ganglia causes a loss of intrinsic excitatory and inhibitory innervation. Practical pathology and genetics of hirschsprungs disease. This commonly presents as delayed or failed passage of meconium around birth. Pathophysiology of hirschsprungs disease springerlink. Neuhauser was the first to demonstrate and attach significance to the narrow segment in barium enema examinations in. Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results. In hirschsprungs disease, also known as aganglionosis, patients do not have ganglion cells in the rectum. By working together we can combine a wealth of knowledge to improve the lives of the children suffering from these conditions. Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a childs bowel. Short segment, long segment, total colonic and panintestinal forms as defined above. 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. Hirschsprungs disease is the congenital absences of ganglion cells in the rectum and the lack of. When the bowel is missing nerve cells, it does not work well.
Classic hirschsprung disease invariably includes aganglionosis of the distal rectum and variable length of contiguous bowel. Check out our entire database and interactive tools to learn more about conditions, procedures, and gain insight into your health risks. Hirschsprungs disease childrens hospital of pittsburgh. Hirschsprung s disease hd, also known as congenital aganglionic megacolon disease, is a congenital disease in which ganglionic cells fail to develop in the large intestine. Laparoscopicassisted pullthrough for hirschsprungs disease. Hirschsprungs disease childrens hospital pittsburgh. Taking the biopsy, identifi cation and orientation of sample for cross sections. Although congenital aganglionosis always affects the rectum, which is the final part of the large intestine, it can. Hirschsprungs disease hd is a rare condition which affects the nerve cells of the bowel, causing a blockage of the bowel.
Hirschsprungs disease is not alike in all patients. Hirschsprung disease is a developmental disorder characterized by absence of ganglia in the distal colon, resulting in a functional obstruction. Hirschsprung disease hd, also known as congenital megacolon, is a. Hirschsprung disease is the most common cause of neonatal colonic obstruction 1520%. Proposed recommendations and guidelines for diagnosis of. Request pdf laparoscopicassisted pullthrough for hirschsprung s disease hirschsprung s disease congenital megacolon is a congenital disorder of the intestine. Hirschsprungs disease was diagnosed with a barium enema and rectal manometry. Proposed recommendations and guidelines for diagnosis of hirschsprung s disease in mucosal and submucosal biopsies from the rectum 275 these samples are generally ly mphoid aggregates occupying the submucosa and displacing meissners plexus. Normally, the bowel contains many nerve cells all along its length that control how the bowel works.
Hirschsprung disease congenital aganglionic megacolon is a developmental disorder of the enteric nervous system. Created using powtoon free sign up at create animated videos and animated presentations for free. In hd, nerve cells called ganglion cells are missing from a section of the bowel. Hirschsprungs disease american college of surgeons. It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys.