Cases Of Hirschsprung's Disease Research Articles

Outcomes following endorectal pull-through for Hirschsprung disease: a retrospective study

PurposeTo share our experience in the surgical management of patients with Hirschsprung disease (HD) using the trans-anal endorectal pull-through “Soave” technique.MethodsThe study included cases diagnosed as HD who were operated during the period 2008 through 2018. Cases of total colonic aganglionosis were excluded to be discussed in a separate report.ResultsThe study included 67 consecutive cases of HD. All included cases underwent trans-anal endorectal pull-through which was purely trans-anal in 31 (46%), while abdominal-assisted trans-anal endorectal pull-through was applied in the remaining (54%). Early postoperative complications included 2 cases of partial dehiscence at the colo-anal anastomosis; 1 of them deteriorated after re-exploration and unfortunately died. Twenty-six cases were available to assess functional outcomes after corrective surgery. Their age at follow-up ranged between 44 months and 17 years (mean = 78.8 months; median = 72 months). All cases achieved voluntary defecation. However, fecal soiling was a common finding after surgery for HD (69%). Constipation was another common postoperative finding (73%). Lastly, a history of attacks of postoperative enterocolitis was prevalent in 19 cases (73%), which ranged between 1 and 7 attacks usually in the first 2 years after the operation.ConclusionThe trans-anal endorectal pull-through provides an effective surgical treatment for Hirschsprung disease. The high prevalence of fecal soiling after surgery highlights the importance of long-term follow-up to provide the required support for these patients during adolescence and transition into adulthood.

High-Resolution Anorectal Manometry as a Screening Tool for Hirschsprung's Disease: A Comprehensive Retrospective Analysis.

Hirschsprung's disease (HD) is characterized by a congenital absence of enteric ganglion cells in the intestine, posing challenges in diagnosis, particularly in pediatric patients. The gold standard, rectal suction biopsy (RSB), carries risks, prompting an exploration of non-invasive alternatives such as high-resolution anorectal manometry (HR-ARM) for HD screening. We conducted a retrospective analysis of 136 patients suspected of HD between 2018 and 2022, which were stratified into three age groups: ≤12 months, ≤24 months, and >24 months. Criteria for suspicion included delayed meconium passage, unresponsive chronic constipation, and abnormal prior test results. HR-ARM, supplemented by additional tests, confirmed 16 HD cases. HR-ARM exhibited 93.75% sensitivity, 89.47% specificity, 99.03% negative predictive value (NPV), and 55.56% positive predictive value (PPV). Notably, HR-ARM consistently performed well in patients ≤ 2 years old but demonstrated reduced efficacy in older children, which was likely due to complications from chronic constipation. This study underscores HR-ARM's promise as a non-invasive HD screening tool, especially in younger patients. However, its limitations in older children warrant consideration. Establishing standardized protocols, particularly for assessing the recto-anal inhibitory reflex, is crucial. Further research is imperative to optimize HR-ARM's diagnostic role across varied age groups in HD assessment.

Evaluation of Calretinin and enumeration of mast cells in rectum tissue biopsies of Hirschsprung and non-Hirschsprung disease in neonate and infant

The Hirschsprung disease (HD) is a complex genetic congenital condition characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon and rectum, leading to functional intestinal obstruction. A study was conducted from July 2022 to December 2022. The Toluidine blue stain and calretinin immunohistochemistry were applied to 36 cases of neonates and infants who clinically presented with symptoms suspicious of having HD, And the hematological study of cell blood counts test and compared the result of the HD group with the non-HD group and control group. The study showed an increase in mast cell numbers in the rectal biopsy tissue of HD patients compared with non-HD patients using Toluidine blue stain. The Immunohistochemistry for calretinin result displayed 27 (75%) cases as HD, while the remaining 9 (25%) cases were confirmed as non-HD and showed hypertrophied nerve fiber in HD cases. at the same time, the complete blood count result was unrelated to HD. Some worrying maternal risk factors were highlighted during pregnancy were the age of the mother at conception, maternal illness, intake of drugs, type of Childbirth, and number of previous maternal abortions; all of them show a non-significant difference between the HD group and non-HD group, also consanguineous marriage was detected and shows a significant difference between the HD group and non-HD group. Keywords: Hirschsprung, Calretinin, Toluidine blue, CBC count

Case report: Anal tuberculosis presenting as an anal fistula

This is a case of a young gentleman, who presented with complaints of hematochezia, weight loss and fluctuating fever for the past five months. The patient was a known case of Hirschsprung disease and Ulcerative colitis (IUC) and underwent a rectal Duhamel procedure in the past. On examination there was a fistula with an external opening at the anal verge. The clinical suspicion at this point was enterocutaneous fistula, abscess, and incontinence secondary to Hirschsprung disease. Investigations including MRI and sigmoidoscopy were carried out. A tissue from the anorectal junction was taken for histopathology review. Histopathological analysis suggested granulomatous inflammation with collection of epithelioid histiocytes along with caseating necrosis. This was consistent with the diagnosis of anal tuberculosis. The patient was started on a quadruple regimen of anti-tuberculous drugs (ATT). The patient six months into treatment has shown significant clinical improvement.

Our Experience of the De la Torre-Mondragon Technique in the Surgical Management of Hirschsprung's Disease: A Report on 52 Cases.

The authors report their experience of the transanal endorectal pull through technique as described by De la Torre Mondragon in the treatment of Hirschsprung's disease (HD). It was a retro prospective, observational and descriptive hospital based study involving all proven cases of HD managed within a time frame of 8 years. Fifty two patients with a mean age of 18 months at the time of surgery. The male pre dominance was remarkable. The mean duration of the surgery was 2 h and a half hours. The surgical indication was based on the history, clinical findings and on the contrast enema (transition zone) with a 24 h film (prolonged contrast evacuation) and calculation of the rectosigmoid index (<1). With a mean follow up of 16 months, the morbidity was dominated by soiling, anastomotic strictures and enterocolitis. The mortality in one case was related to a post operative enterocolitis that was not amenable to resuscitation. Soiling, anastomotic strictures and enterocolitis are the main post operative complications of TEPT in the treatment of HD in our practice.

A case report of a pediatric patient with Hirschsprung’s disease

The objective is to describe an uncommon case of Hirschsprung's disease (HD), also called congenital megacolon. The lack of neuronal ganglion cells from the submucosal and muscular nerve plexuses throughout a segment of varied length characterizes HD. Approx 94% of HD cases are diagnosed below the age of 5 years. A 3 years old male patient was admitted to the male surgery ward under a pediatric surgeon with the chief complaints of chronic constipation since birth with a history of delayed passage of meconium. The patient was diagnosed with a case of HD at the age of 1 year for which he was operated on colostomy was performed with multiple biopsies from narrowed rectosigmoid, from the transitional zone, and from colostomy stoma which confirmed the decision to make colostomy at the ganglionated segment of the colon based on the clinical picture during surgery. Biopsy report of narrowed rectosigmoid segment showed the absence of ganglion cells, while colostomy stoma and dilated proximal colon showed the presence of ganglion cells. The patient underwent a surgical procedure named pull-through surgery for HD, a martin's modification of the Duhamel operation.

Calretinin Staining in Anorectal Line Biopsies Accurately Distinguished Hirschsprung Disease in a Retrospective Study.

The absence of submucosal ganglion cells does not reliably distinguish Hirschsprung disease from non Hirschsprung disease in anorectal line biopsies. Calretinin staining might be helpful in these biopsies. To determine its value, we analyzed calretinin positive mucosal neurites in anorectal line biopsies. Two pediatric pathologists, without access to patient data, evaluated calretinin positive mucosal neurites in anorectal line junctional mucosa in archival rectal biopsies contributed by 17 institutions. A separate investigator compiled patient information and sent data for statistical analysis. Biopsies with anorectal junctional mucosa from 115 patients were evaluated for calretinin positive mucosal neurites. 20/20 Hirschsprung disease biopsies were negative. 87/88 non Hirschsprung disease biopsies and 7/7 post pullthrough Hirschsprung disease neorectal biopsies were positive. Statistical analysis of the 108 non pullthrough biopsies yielded an accuracy of 99.1% (sensitivity 100%, specificity 98.9%). Age range was preterm to 16 years. Biopsy size was less than 1 mm to over 1 cm. Absence of calretinin positive mucosal neurites at the anorectal line was highly accurate in distinguishing Hirschsprung disease from non Hirschsprung disease cases in this blinded retrospective study. Calretinin staining is useful for interpreting biopsies from the physiologic hypoganglionic zone up to the anorectal line.

PTEN Immunohistochemistry.

Intestinal neuronal dysplasia type B (IND B) is a complex entity involving the enteric nervous system, clinically manifested with constipation in infancy. Diagnosis has been established by histopathologic analysis of rectal biopsies. However, the criteria for the diagnosis have been questioned and modified, hindering diagnostic practice. To analyze the applicability of PTEN immunohistochemistry in the diagnosis of IND B and to compare with control cases and cases of Hirschsprung disease (HD). PTEN immunohistochemical expression was analyzed in colorectal samples from 29 cases of IND B and compared with 4 control cases and 6 cases of HD. The pattern of PTEN immunoexpression was analyzed in glial cells of the submucosal and myenteric nerve plexuses and in neural fibrils of the muscularis propria using a scoring system. Marked reduction or absence of PTEN expression was observed in glial cells of the submucosal nerve plexuses in all cases of the IND B group and in the myenteric nerve plexuses in 28 of 29 cases (96.5%). Lack of PTEN expression was detected in neural fibrils within the muscularis propria in 21 of 29 cases (72%) of the IND B group. PTEN expression was positive in the same neural structures of the control and HD groups. PTEN immunohistochemistry may be a valuable tool in the diagnostic evaluation of IND B. Lack of or reduction of PTEN expression in neural fibrils within the muscularis propria suggests that involvement of the neuromuscular junction may be a key event in the pathogenesis of the motility disturbance occurring in IND B.

Novel roles for rRNA and ribosome biogenesis associated factors in neural crest cell colonization of the gut and in the pathogenesis of Hirschsprung disease

The enteric nervous system regulates the functions of the gastrointestinal system, which include food transportation, digestion, nutrient and liquid absorption and expulsion of waste. The enteric nervous system is comprised of neurons and glia that are primarily derived from a multipotent, migratory population of cells called neural crest cells. Defects in the formation, migration and or differentiation of neural crest cells can lead to incomplete colonization of the gastrointestinal tract and perturbed ENS development resulting in Hirschsprung disease. Hirschsprung disease is a congenital disorder characterized by the absence of ganglia in variable regions of the gastrointestinal tract and ~50% of the known cases of Hirschsprung disease have an unknown genetic diagnosis. This makes it imperative to identify other genes and biological processes that contribute to the etiology and pathogenesis of Hirschsprung disease. We have identified three new genes, Tcof1, Polr1a and Polr1c, and the process of rDNA transcription which is a rate‐limiting step in ribosome biogenesis, as novel regulators of neural crest cell development, enteric nervous system formation and the etiology of Hirschsprung disease. Loss of function mutation of Tcof1, Polr1a and Polr1c in neural crest cells results in total intestinal aganglionosis, the most severe form of Hirschsprung disease in mice. Mechanistically, downregulation of Tcof1, Polr1a and Polr1c results in reduced rRNA synthesis, which leads to increased p53‐dependent NCC apoptosis, and insufficient NCC to colonize the gut. This led us to hypothesize that inhibition of p53 could rescue the Hirschsprung phenotype in the mutants, and we are currently testing this and other and other approaches as potential preventative therapies.

Total Colonic Aganglionosis in Hirschsprung disease

Total Colonic Hirschsprung Disease (HD) can be challenging from a diagnostic and management standpoint and occurs in around 8% of cases of HD. Long term outcomes are difficult to compare due to variation in length of aganglionosis, chosen surgical techniques, and terminology utilized in the literature. In this review we highlight some of the management controversies and clinical challenges and emphasize future areas of suggested collaboration and research.

A Case of Hirschsprung Disease With Segmental Dilatation of Intestine Diagnosed in Newborn

A Case of Hirschsprung Disease With Segmental Dilatation of Intestine Diagnosed in Newborn

ЭПИДЕМИОЛОГИЧЕСКИЕ АСПЕКТЫ БОЛЕЗНИ ГИРШПРУНГА

Introduction. Hirschsprung's disease (HD) is a congenital malformation characterized by the absence of intramural ganglia in the intestinal wall. Frequent complications of Hirschsprung's disease and other disorders of intestinal motility are problems of late or erroneous diagnosis, and sometimes to a greater extent than complications of surgical techniques when performing surgical interventions [1,2]. Aim. The lack of statistical data characterizing the incidence of HD on the territory of the Republic of Belarus became the reason for conducting an epidemiological study based on the annual statistical reports of the Republican Scientific and Practical Center for Pediatric Surgery. Materials and methods. A descriptive epidemiological study of the incidence of Hirschsprung's disease on the territory of the Republic of Belarus was carried out on the basis of data from the surgical departments of the Republican Scientific and Practical Center for Pediatric Surgery for the period from 01.01.2010 to 31.12.2019 (10 years). Results. During the study period, 130 patients born in the period 2010 - 2019 were radically operated with different forms of BG. According to the data presented in Table 1, from 7 to 20 cases of HD were detected annually (13 (10 ÷ 17) cases / year according to the median), which was 11.90 (8.37 ÷ 14.34) cases per 100 thousand newborns. The incidence of HD ranged from 1 in 5889 to 1 in 15 432 population. No dependence of the number of HD cases per year on the birth rate was found. The incidence of HD in the Republic of Belarus averages 1: 9250. According to the literature, the incidence of HD in the world was 20.64 (18.05 ÷ 22.43) cases per 100,000 newborns, while in the Republic of Belarus for the period from 2010 to 2019 years the incidence was lower and amounted to 11.90 (8.37 ÷ 14.34) cases per 100,000 newborns. Conclusion. The incidence of HD in the Republic of Belarus averages 1: 9250, which is significantly less than in foreign countries according to the literature. The reasons for this are different, but, apparently, the main one is the insufficient alertness of pediatricians and pediatric surgeons in relation to HD and, accordingly, insufficient diagnostic coverage of pediatric patients with impaired colon function. Compliance with the principles of work of specialists on continuity in the work of specialists, starting from the neonatal period, the wary attitude of doctors towards HD will improve the diagnosis of HD in children.

Estimation of plasma and RBC acetylcholinesterase in children: An evaluation tool for Hirschsprung's disease?

Increased acetylcholinesterase (AChE) activity on frozen sections of rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD). But the quest for a biomarker in blood as a screening test prompts one to look for AChE in blood and study its role in HD diagnosis. To develop a low-cost reliable method to estimate the AChE activity in plasma and red blood cells (RBCs) in normal children (control) and study its role in HD (test). Optimized method derived after modifying and standardizing known AChE assay protocols for blood were employed on 30 controls to define the AChE cut-off range, on 40 suspected HD cases to categorize them as HD/non-HD based on cut-off values and later compared with gold standard tissue AChE histochemistry of rectal mucosal biopsies. An optimal in-house modified methods of Ellman's was found best suited to analyze plasma AChE activity, method by Wilson and Henderson was optimal for extraction and AChE estimation in RBCs. AChE levels (controls) obtained were 1.03 ± 0.31 U/mL and 5.17 ± 1.52 U/mL in plasma and RBCs, respectively while the plasma AChE was 1.35 ± 0.84 U/mL (HD) and 1.62 ± 0.85 U/mL (non-HD) while RBC AChE was 4.29 ± 3.2 U/mL (HD) and 6.48 ± 4.31 U/mL (non-HD). Sensitivity was 66.67% and 55.56%, specificity was 22.73% and 45.45%, and an accuracy rate of 42.5% and 50% for plasma and RBC, respectively. Mutually exclusive AChE activity range identified for test blood samples overlapped with the normal and hence, not considered a diagnostic tool for HD.

The Value of Calretinin in the Diagnosis of Hirschsprung&amp;apos;s Disease in Dakar

<i>Introduction</i>: Hirschsprung's disease is a congenital anomaly characterised by a rarefaction or absence of ganglion cells associated with schwannian hyperplasia or hypertrophy involving the colon or a segment of the colon. Its diagnosis is based on clinical, radiological and histological evidence. Haematoxylin-eosin examination is used in cases of suspected Hirschsprung's disease. However, in some situations it is insufficient to confirm or refute the diagnosis. Immunohistochemical and histo-enzymatic techniques can be used to demonstrate aganglionosis. The aim of our study is to evaluate the interest of calretinin in the diagnosis of Hirschsprung's disease in Dakar. <i>Materials and methods</i>: This was a retrospective and descriptive study from 1 January 2018 to 31 August 2019. It was conducted at the pathology laboratory of Idrissa Pouye General Hospital where 51 paraffin blocks from suspected Hirschsprung's Disease cases were included. All blocks were immunohistochemically studied with anti-calretinin antibody. The diagnosis of Hirschsprung's disease on standard histological examination was based on the absence of lymph node cells in the submucosal and myenteric plexuses. Calretinin immunoreactivity was shown by nuclear and cytoplasmic labelling of ganglion cells and nerve nets. In Hirschsprung's disease, there is an absence of labelling of the nerve plexuses. <i>Results</i>: The majority of patients (73.5%) were aged 2 years or older with a mean age of 3.4 years. The sex ratio was 2. Biopsies constituted 56.86% of the specimens and surgical specimens 43.14%. Concordance between haematoxylin-eosin examination and calretinin immunohistochemistry was observed in 47 cases (92.15%) and discordance in 4 cases (7.15%). The sensitivity of calretinin was 93.75% and the specificity 89.47%. The kappa index was 0.92. The recto-sigmoid form was the most frequent topographic form observed in 83.3% of patients. <i>Conclusion</i>: Morphological examination with haematoxylin-eosin remains a good diagnostic method for Hirschsprung's disease. Calretinin immunohistochemistry is necessary in equivocal cases, in neonates and infants and in case of superficial biopsies.

Comparison between Suction Rectal Biopsy and Full-Thickness Rectal Biopsy in the Diagnosis of Hirschsprung's Disease.

Aim:The aim of this study is to compare suction rectal biopsy (SRB) with full-thickness rectal biopsy (FTRB) in suspected cases of Hirschsprung's disease (HD).Materials and Methods:Between 2014 and 2018, we enrolled 41 consecutive children with suspected HD. We analyzed demographics, sex, age, clinical symptoms, radiological images, and biopsy reports. All the children had undergone X-ray of the abdomen and pelvis and contrast enema. All of them have undergone both SRB and FTRB, and their results were compared.Results:Out of 41 children, 26 were male and 15 were female. The children were aged from 5 days to 12 years. All of them presented with delayed passage of meconium, abdominal distension, and severe constipation. They all were on oral laxatives. The sensitivity and specificity of SRB are 80.95% and 90.00% when compared to FTRB which has 100% and 100%, respectively.Conclusion:FTRB is the gold standard test for diagnosing HD. SRB may be a good screening test in suspected HD cases. SRB is not as equal and effective as FTRB for diagnosing HD.

A novel Lugol\u2019s iodine staining technique to visualize the upper margin of the surgical anal canal intraoperatively for Hirschsprung disease: a case series

BackgroundIn cases of Hirschsprung disease, complete and reproducible resection of the aganglionic bowel is ideal to achieve good postoperative bowel function. Reliable identification of the upper margin of the surgical anal canal, which is the squamous-columnar junction, is necessary during transanal pull-through. Here, we describe a novel staining technique using Lugol’s iodine stain to visualize the upper margin of the surgical anal canal.MethodsLugol’s iodine staining was performed in five patients with Hirschsprung disease treated using a single-stage laparoscopic transanal pull-through modified Swenson procedure. In two of these patients, endocytoscopic observation with ultra-high magnification was performed using methylene blue and crystal violet to mark the border of the squamous epithelium at 1 week before surgery. The alignment between the incisional line, which was revealed using Lugol’s iodine staining and endocytoscopic marking, was evaluated. Complications, including postoperative bowel dysfunction, were evaluated.ResultsIn all cases, Lugol’s iodine staining produced a well-demarcated line. The endocytoscopic marking of the upper margin of the surgical anal canal was aligned with the line revealed by Lugol’s iodine staining. There were no complications associated with the transanal pull-through procedure, including postoperative bowel dysfunction.ConclusionsLugol’s iodine staining could be a safe and practical method to visualize the upper margin of the surgical anal canal intraoperatively. This finding may be useful for surgeons to make a consistent removal of the aganglionic bowel during surgery for Hirschsprung disease.

CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

Hirschsprung's Diseases Complicated by Sigmoid Volvulus: A Systematic Review

Hirschsprung's disease and sigmoid volvulus can sometimes be seen in the same patient. To investigate the presence of Hirschsprung's disease in patients with sigmoid volvulus and to discuss the diagnosis and treatment methods. Systematic review. This systematic review has been reported in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the methodological quality of systematic reviews guidelines. The PubMed and Scopus databases were scanned using the keywords "Hirschsprung* volvulus*" and "congenital aganglionic megacolon volvulus*". The reference list of the selected studies was reviewed for cross-checking. Two reviewers independently screened the available literature. Only the Hirschsprung's disease cases involving sigmoid volvulus were included, and cases of patients with volvulus in other sites was excluded. There was no restriction with respect to the publication language and type of writing. The primary outcome was morbidity and mortality. A total of 31 cases were analyzed in 22 articles; 97% of the patients were under the age of 40, 90% were male. There was a statistically significant difference in the necessity for relaparotomy between patients who were scheduled for sigmoid volvulus therapy with the suspicion of Hirschsprung's disease and patients who were treated without suspicion of Hirschsprung's disease (0% vs 37.5%, p=0.02). While there was no postoperative death in cases with suspected Hirschsprung disease, this mortality rate was 25% in cases without suspicion (p = 0.08). Hirschsprung's disease should be excluded with rectal biopsy if a patient with sigmoid volvulus is under 40 years of age and has complaints of constipation from childhood.

Concurrence of Hirschsprung Disease and congenital duodenal obstruction

Abstract Hirschsprung disease (HD), duodenal atresia, and annular pancreas are rare congenital gastrointestinal malformations. Although 18% of HD cases are associated with other malformations, little evidence exists of concurrent HD and duodenal atresia or HD and annular pancreas. We present three cases of infants who had evidence of duodenal obstruction on prenatal imaging. Postnatally, all three had obstructive symptoms or constipation, even after duodeno-duodenostomy was performed. They were eventually found to have HD, which was successfully treated through surgical intervention. Although the diagnosis of these conditions can be challenging given similarities in their clinical presentations, proper diagnosis and surgical management is feasible and can significantly reduce morbidity and mortality for the infant.

Contemporary management of Hirschsprung disease in New Zealand.

The aim of this study was to report the contemporary management of Hirschsprung disease (HD) in New Zealand. We undertook a national multi-centre retrospective review of all newly diagnosed cases of HD during a 16-year period (2000-2015). Demographics, genetic and syndromic associations, family history, radiology and histology results and surgical interventions were analysed. A total of 246 cases (males:females 4:1) were identified, an incidence of 1:3870 live births. Short-segment disease was present in 81.7%, long-segment disease in 8.5%, total colonic aganglionosis in 6.5% and unknown in 3.3%. HD was diagnosed by 4 weeks' corrected gestational age in 67%. Thirty cases (12%) also had Trisomy 21. Fifty-three (21.5%) patients required a repeat rectal biopsy for definitive diagnosis. A contrast enema was performed in 55% and identified the transition zone with 69% accuracy. Primary pull-through surgery was undertaken in 59% (65% of short-segment cases) at a median age of 27 days; others were initially managed by a defunctioning stoma. The commonest definitive procedure was a Soave-Boley endorectal pull-through (79%) (or similar variant). During a median follow-up of 7.4 years, six (2.5%) survivors underwent a redo pull-through, 13 (5.5%) an appendicostomy, 16 (6.8%) a defunctioning stoma and 10 never had a definitive procedure. Total colonic aganglionosis was significantly more likely to be fatal (12.5% versus 0.5%, P < 0.0005) or associated with a permanent end stoma (27.5% versus 4.5%, P < 0.0005). Most New Zealand born infants with short-segment HD are currently managed by primary pull-through, usually in the first months of life.