Small Bowel Aganglionosis Research Articles

Surgical Strategies in Total Colonic Aganglionosis: Primary Pullthrough-Pathway of Care.

Background: Total colonic aganglionosis, as a rare variant of Hirschsprung Disease, still poses challenges to surgeons in terms of diagnosis and management. The optimal preparation for pullthrough is crucial for reconstructive surgery. This study aims to explore our surgical pathway for children with total colonic aganglionosis (TCA) and to describe the prehabilitation necessary to prepare for successful reconstructive pullthrough surgery. Methods: A prospective review of children with TCA receiving an abdominal surgical intervention between 1/22 and 4/24. The cohort included children receiving mapping +/- primary ileoanal pullthrough. An analysis of preoperative, perioperative, and postoperative data, and a short-term follow-up were performed. Results: A total of 18 children with TCA and no prior pullthrough received an abdominal intervention during the 29-month study period, and 5/18 (27.8%) were female. The children had a median of 4 (range 2-7) prior external surgeries; all had a stoma; 6 (33%) children received parental nutrition; 12 children underwent a mapping of the ganglia distribution and bowel length at a median age of 11 months (range 3-54), and in 10 of them, we relocated the stoma. There was a mean involvement of 15 (5-93) cm small bowel aganglionosis, with the remaining mean ganglionic small bowel having a length of 178 cm (110-254). A total of 11 children underwent straight primary ileoanal pullthrough of the stoma site at a median age of 16.7 months (10-133). Conclusions: The timely diagnosis of TCA still challenges the care team, and most children have a rough journey involving several surgeries until their diagnosis is established. The ensure bowel function with an adequate working stoma is the key to enabling enteral nutrition and growth, which are the baseline requirements to undertake a successful pullthrough procedure and restore continuity. Careful perioperative bowel management and parents' active involvement supports children with Hirschsprung Disease achieving the best possible quality of life.

Duhamel Versus Swenson Pull-Through for Total Colonic Aganglionosis: A Multi-Institutional Study

BackgroundTotal colonic aganglionosis (TCA) is a rare variant of Hirschsprung disease (HD) where the colon and portion of distal ileum lack ganglion cells. Most pediatric use either a straight ileoanal (Swenson or Yancey-Soave) or a short Duhamel pull-through for TCA. There are no large studies comparing these techniques. We aimed to compare short-and medium-term outcomes between these approaches. MethodA retrospective review was performed among children with TCA from 2001 to 2019 undergoing a primary Duhamel or Swenson pull-through across three large children's hospitals. Patients undergoing redo and patients with greater than 30 % small bowel aganglionosis were excluded. We gathered data on demographics, operative approach, and outcomes at one, two, and three years. Continuous variables were analyzed with t-tests and categorical variables with Chi square or Fisher's tests. ResultsThere were 54 patients, with 26 (48 %) undergoing Duhamel and 28 (52 %) undergoing Swenson pull-through. There were no differences in sex, age, medical comorbidities, or operative details, including age at pull-through, laparoscopic vs open, length of involved small bowel, and operative time. Length of stay and post-operative complications were not different. Three years after pull-through, patients undergoing Duhamel had fewer stools per day (1-3 stools 69.6 % vs 14.3 %, p = 0.003) and were less likely to be prescribed fiber supplementation (4.2 % vs 43.8 %, p = 0.003). There were no differences in irrigations, botulinum toxin administration, loperamide, or HD admissions. ConclusionBoth Duhamel and straight pull-throughs are safe for treatment of TCA, with acceptable short- and medium-term outcomes. Further studies on patient-reported outcomes are necessary to examine long-term differences. Level of EvidenceIII.

Hirschsprung’s Disease: Two Cases of Total Intestinal Aganglionosis

Abstract Introduction/Objective Hirschsprung’s disease is a disorder associated with an absence of ganglion cells in a segment of the bowel. Total colonic and small bowel aganglionosis occurs in less than 1% of all Hirschsprung’s disease patients. Even rarer is the finding of Haddad syndrome, the coexistence of congenital central hypoventilation syndrome and Hirschsprung’s disease. Congenital central hypoventilation syndrome has approximately 1,000 reported cases, with colonic aganglionosis being associated with 15-20% of those cases. The prevalence of Hirschsprung’s disease with congenital renal anomalies may be another underreported finding. Methods Here, we report two rare cases of Hirschsprung’s disease with significant extension in the small bowel. One case involves a 38-week gestational age male infant admitted for apnea and another case involves 39-week gestational age female infant admitted for vomiting. Results Both infants had rectal suction biopsies confirming the absence of ganglion cells. The male infant had mapping biopsies which histologically showed hypertrophic nerve fibers and an absence of ganglion cells in the colon extending up to 70 cm proximal to the ileocecal valve. Calretinin immunostaining confirmed aganglionsis. Genetic testing showed a PHOX2B gene mutation carrying 32 polyalanine repeat mutations, confirming a diagnosis of congenital central hypoventilation syndrome coexisting with Hirschsprung’s disease. The female infant had intraoperative frozen sections that identified ganglion cells throughout the colon. On permanent sections, there was an absence of ganglion cells in the upper rectum extending up to 65 cm proximal to the ileocecal valve. She also was noted to have agenesis of the left kidney and a urachal remnant. Genetic testing was negative for RET mutations. Conclusion Overall, these cases provide further information on a rare variant of Hirschsprung’s disease that includes significant portions of the small bowel. Additionally, this study adds to the documented reports of Haddad syndrome and the connections between renal anomalies with Hirschsprung’s disease. Last, this series alludes to the difficulties of frozen section diagnosis of this disease.

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

BackgroundTotal colonic and small bowel aganglionosis (TCSA) occurs in less than 1% of all Hirschsprung’s disease patients. Currently, the mainstay of treatment is surgery. However, in patients with TCSA, functional outcomes are often poor. A characteristic transition zone in TCSA can be difficult to identify which may complicate surgery and may often require multiple operations.Case presentationWe present the case of a male infant who was diagnosed with biopsy-proven total colonic aganglionosis with extensive small bowel involvement as a neonate. The patient was diverted at one month of age based on leveling biopsies at 10 cm from the Ligament of Treitz. At 7 months of age, during stoma revision for a prolapsed stoma, intra-operative peristalsis was observed in nearly the entire length of the previously aganglionic bowel, and subsequent biopsies demonstrated the appearance of mature ganglion cells in a previously aganglionic segment.ConclusionsTCSA remains a major challenge for pediatric surgeons. Our case introduces new controversy to our understanding of aganglionosis. Our observations warrant further research into the possibility of post-natal ganglion maturation and encourage surgeons to consider a more conservative surgical approach.

Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report

BackgroundTotal colonic and small bowel aganglionosis is a rare condition typically requiring intestinal transplant for long-term survival. There have not been any previously reported cases of near total intestinal aganglionosis complicated by concerns for hemophagocytic lymphohistiocytosis and need for both multivisceral organ transplant and hematopoietic stem cell transplant.Case presentationOur patient is a 35-month-old Egyptian boy who presented with bilious emesis and failure to pass meconium shortly after birth. After evaluation, he was found to have near total colonic and small bowel aganglionosis up to the ligament of Treitz. When he was transferred to our tertiary facility, he was already diagnosed as having aganglionosis of total colon and partial small bowel whose case is complicated by the concern for hemophagocytic lymphohistiocytosis. He was not able to absorb any substantial nutrition enterally and was stabilized on long-term total parenteral nutrition which resulted in total parenteral nutrition-induced liver injury. While awaiting evaluation for liver and bowel transplant, he developed concerning symptoms consistent with hemophagocytic lymphohistiocytosis. He presents a complex challenge creating difficulty with management of whether to proceed with bowel transplant as a result of near-total intestinal aganglionosis or hematopoietic stem cell transplant for treatment of hemophagocytic lymphohistiocytosis. In this case, the transplant team proceeded with visceral transplant first, however he did not survive.ConclusionsThis presentation of aganglionosis of total colon and partial small bowel complicated by the concern for hemophagocytic lymphohistiocytosis is unique to medical literature. For many physicians involved it is hard to determine how best to proceed with next steps in care.

Total colonic aganglionosis and Hirschsprung's disease: a review.

Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR). It occurs in approximately 2-13 % of HSCR cases and involves the entire colon which is aganglionic but may extend proximally into varying lengths of small bowel. As a result, it should be separated into Total colonic aganglionosis (TCA) [defined as aganglionosis extending from the anus to at least the ileocaecal valve but no more than 50 cm small bowel proximal to the ileocaecal valve] and total colonic and small bowel aganglionosis (TCSA) which may involve very long segments of small bowel aganglionosis. Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties which may be experienced in diagnosis suggesting a different pathophysiology from the more common forms of HSCR. It is therefore not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. A number of differences exist between TCA and other forms of HSCR which require explanation if its ubiquitous clinical features are to be understood. In addition to the usual explanations for the aganglionosis of HSCR, there is some evidence suggesting that in place of being purely congenital, it may represent certain different pathophysiologic mechanisms, some of which may continue to be active after birth. This study reviews what is known about the clinical, radiological and histopathologic differences between TCA and the more frequently encountered recto-sigmoid (or short-segment; S-HSCR) and correlates them with what is currently known about the genetic and molecular biologic background to find possible pathogenetic mechanisms.

Total colonic aganglionosis in Hirschsprung disease

Total colonic aganglionosis (TCA) is a relatively uncommon form of Hirschsprung disease (HSCR), occurring in approximately 2%-13% of cases. It can probably be classified as TCA (defined as aganglionosis extending from the anus to at least the ileocecal valve, but not >50 cm proximal to the ileocecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of aganglionosis. It is not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. There are many differences between TCA and other forms of HSCR, which require explanation if its ubiquitous clinical features are to be understood. Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties that may be experienced in diagnosis, suggesting a different pathophysiology from the more common forms of HSCR. There is also some evidence suggesting that instead of being purely congenital, it may represent certain different pathophysiologic mechanisms. This study, in addition to reviewing current understanding and differences between TCA and the more frequently encountered rectosigmoid (or short-segment) expression, correlates them with what is currently known about the genetic and molecular biological background. Moreover, it reviews current outcomes to find consensus on management.

Total colonic aganglionosis and Hirschsprung’s disease: shades of the same or different?

Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR) occurring in approximately 2-13% of cases. It can probably be divided into total colonic aganglionosis (TCA; defined as aganglionosis extending from the anus to at least the ileocaecal valve, but no more than 50 cm proximal to the ileocaecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of aganglionosis. Clinically, they appear to represent a different spectrum of disease in terms of presentation and difficulties in diagnosis which may be experienced, suggesting a different pathophysiology from the more common forms of HSCR. It is not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. There are a number of differences between TCA and other forms of HSCR, which require an explanation if its ubiquitous clinical features are to be understood. There is some evidence suggesting that instead of being purely congenital, it may represent certain different pathophysiologic mechanisms, some of which may continue to be active after birth. This study reviews all that is known about the clinical, radiological and histopathologic differences between TCA and the more frequently encountered recto-sigmoid (or short-segment) and correlates them with what is currently known about the genetic and molecular biologic background to find possible pathogenetic mechanisms.

Gastroschisis and Hirschsprung's disease: A rare combination

The authors report on a neonate with gastroschisis repaired at birth who later had abdominal distension, emesis, feeding intolerance, and an abnormal stooling pattern. Total colon and partial small bowel aganglionosis (TCAS), or Hirschsprung's disease, was diagnosed subsequently. This is the first report of this combination of gastrointestinal anomalies. J Pediatr Surg 36:638-640. Copyright © 2001 by W.B. Saunders Company.

Total intestinal aganglionosis: A new technique for prolonged survival

Total small bowel aganglionosis is uniformly fatal; and prolonged nutritional treatment for the resulting severe short bowel syndrome in the absence of a therapy designed to achieve a functional bowel length has not been warranted. We report an operative technique, long segment small bowel myectomymyotomy, which has produced a functioning length of intestine capable of supporting ever increasing amounts of enteral nutrition. A term female was noted to have neonatal intestinal obstruction, and two laparotomies proved total colonic and near-total small bowel aganglionosis. At 2 months of age reoperation was done and the aganglionosis was proved to extend to 7 cm below the ligament of Treitz. From this transition zone to 10 cm distally, a myectomy was done removing a 1 cm wide length of seromuscular tissue to the level of the submucosa. From the distal end of the myectomy, another 40 cm of bowel received an antimesenteric border myotomy cutting to the submucosal level followed by spreading of the cut surface to a width of 1 cm. This left the patient with 55 to 60 cm of small bowel from the ligament of Treitz to the end of the myotomy at which point an end ostomy was created. The remainder of the small bowel was excised and the colon exteriorized as a mucous fistula. The patient was continued on total parenteral nutrition alone for ten days at which time small volume enteral feeds were introduced. By 5 months of age, 25% of calories were enteral; by 6 months, 33% of calories were enteral; and by 8 months, 45% of intake was enteral.(ABSTRACT TRUNCATED AT 250 WORDS)

Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients.

A nationwide survey on Hirschsprung's disease was conducted to clarify the recent trends of diagnosis and treatment of Hirschsprung's disease seen in Japan from 1978 to 1982. A total number of 1628 cases were collected from 135 medical institutions. Estimated incidence of Hirschsprung's disease was 1/4697. In diagnosis, anorectal manometry was carried out in 64.7% of the patients and histochemistry in 28.7%. Barium enema with manometry was most frequently used in combination of the methods. A total of 48.7% of the patients were diagnosed in the first month of life. The overall rate of creation of colostomy was 61.3% in aganglionosis extended to the sigmoid colon. Retrorectal transanal pull-through was used most frequently at 57.4%, including Z-shaped anastomosis at 30.4%, then endorectal pull-through at 27.6% as the definitive operation. Considerably high incidence (12.1%-33.7%) of postoperative enterocolitis was noted after major operative procedures, but the mortality rate was low (1.8%-2.4%) except total colonic with or without small bowel aganglionosis. The large number of patients studied in the present survey reveals that there still is much room for improvement in the diagnosis and treatment of Hirschsprung's disease, especially in total colonic with or without small bowel aganglionosis.

Neuromuscular Disorders of the Urinary Tract in Children

Neuromuscular disease of the urinary tract results from a variety of congenital and acquired conditions. It is usually complicated by infection and obstruction. Because of the lack of clearly defined diagnostic criteria, it is often neglected in differential considerations or is reserved as a final “wastebasket.” The importance of the roentgen examination has given the pediatrician and the radiologist the opportunity of being among the first to be in a position to suspect the diagnosis. Examination of several cases at the Childrens Hospital (Denver) in the past few years has stimulated the present review. A few of the cases are reported, with a brief summary of the concepts, in the hope that radiologists especially will contribute more to this subject. Neuromuscular disease may be congenital or acquired, extrinsic or intrinsic. Among the congenital extrinsic causes are: cerebral palsy, neurovertebral malformations, meningocele, amyotonia, and congenital syphilis. Acquired extrinsic causes include syringomyelia, poliomyelitis, muscular atrophy, cord injury, and cord tumors (1). In most of these conditions the urinary tract is not affected without easily recognized signs of general involvement being apparent. Intrinsic neuromotor disorders may be present without visible congenital defect and without extraurinary signs. They may, however, be found in conjunction with other neuromotor abnormalities, such as megacolon (2, 3), small bowel aganglionosis, regional ileitis (4), or achalasia (5). Cases with involvement of the urinary tract alone are the most difficult to diagnose and treat. Abnormal Physiology The Ureters Present concepts indicate that urinary neuromuscular disease involves the bladder primarily and seldom the ureters alone. These are often abnormal from the mechanical and inflammatory effects of bladder dysfunction. The normal renal pelves partially empty by peristaltic activity every two to three minutes (1). Ureteral peristalsis occurs more frequently. Although this activity will continue after denervation (7) parasympathetic stimulation increases it (the reason for poor urographic results following use of parasympathomimetic drugs). Excessive mechanical dilatation after a time will inhibit peristalsis. Ureteral atony may be considered primary only when complete urological study, often including a long period of observation, reveals no bladder abnormality (8). This is the true megaloureter (9). It shows gaping orifices, absence of peristalsis, dilatation, and reflux on cystography. Tortuosity, which is characteristic of mechanically obstructed ureters, is minimal (10, 11). Pathologically, megaloureter may be due to absence of the myenteric (Auer-bach's) plexus. Probably the most significant evidence for this condition is the association of megaloureter with megacolon, arguing for a common parasympathetic defect.