Abstract: Although significantly decreased during last decades, mortality rate for Hirschsprung's disease still ranges between 1 and 10%. The authors reviewed the main features of patients with Hirschsprung's disease treated in our Institution who died in the period between 1993 and 2010 in order to detect possible risk factors or prevention strategies.
Abstract: rectal suction biopsy is a safe and painless procedure commonly performed in pediatric surgical practice for the diagnosis of intestinal dysganglionosis.
Abstract: Invasive mould infections represent important complications of different pediatric conditions. Epidemiology and clinical features vary according to the type of underlying conditions that determine the risk of invasive mycosis. No pediatric study has specifically evaluated the efficacy of prophylaxis or therapy invasive moulds infections, while pediatric dosages for the treatment of invasive aspergillosis are available for drugs that produced positive results in clinical trials undertaken in adults.
Abstract: Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).
Abstract: Minimally invasive surgery is being increasingly applied to inflammatory bowel diseases (IBDs). Few pediatric series from selected research have been described to date. This study describes a unicentric experience of laparoscopic treatment of children with IBDs.
Abstract: Bronchial carcinoid tumors are the most common primary pulmonary neoplasm in the pediatric population. The widely accepted treatment for carcinoid tumors is surgical, specifically aiming at being as much as conservative on lung parenchyma, while the entire tumor is resected. A brief case is described, highlighting the importance and advantages of a surgical and endoscopic combined approach.
Abstract: Tunneled indwelling central venous catheters (CVC) are essential in the management of children with cancer, hematological, nephrological disorders and for parenteral nutrition. The aim of this study is to present the experience of a single center of the transition from traditional open surgical cut down procedure (OSC) to ultrasound (US)-guided percutaneous CVC insertion, focusing on learning curve and related complications.
Abstract: This article is aimed at describing a series of 70 patients who underwent a redo pull-through in the period between January 1991 and January 2007 and to compare them with a series of consecutive patients with Hirschsprung disease who underwent a single pull-through.
Abstract: This report is aimed at describing our preliminary experience with the preperitoneoscopic approach to the bladder neck for rectus fascial sling suspension in neurogenic bladder.
Abstract: The most invalidating and life-threatening complication in Hirschsprung's disease patients (HSCR) is Hirschsprung's disease-associated enterocolitis (HAEC). The mechanisms underlying enterocolitis have not been identified. The limited knowledge of the role of intestinal microflora is in part due to the complexity of the intestinal microbiome and to the limitation of cultivation-based technologies, given that less than 25% of the intestinal bacterial species can be cultured.
Abstract: Little is reported in literature regarding correct management of benign lesions of the kidney. The aim of our study is to present a series of total and partial nephrectomies performed in the last 5 years and to discuss indications.
Abstract: Either "open" and laparoscopic spleen surgery in pediatric age are well known and performed with ease in children. Yet, few data regarding follow-up and outcome are discussed in the international literature.
Abstract: Neurologically impaired children (NIC) have a high risk of recurrence of gastroesophageal reflux (GER) following fundoplication. A postpyloric feeding tube may be useful when gastric emptying disorders occur; however, dislocation and difficulty in feeding management often require more aggressive procedures. Total esophagogastric dissociation (Bianchi's TEGD) is an alternative to the classic fundoplication procedure, whereas laparoscopic gastric bypass is a frequently performed procedure in morbid obesity, improving gastric outlet.
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or haplotypes associated with this subset of HSCR patients. Eighty-four HSCR patients consecutively admitted to our department between July 2006 and July 2007 underwent interviews, notes review, ultrasound screening (further investigation according to detected anomaly), urinalysis, and DNA extraction for molecular genetics study. Another 27 patients with isolated CAKUT were included as a control group for the molecular genetics study. Twenty-one patients (25%) with HSCR had associated CAKUT, with hydronephrosis and hypoplasia being the most frequent diagnoses. Nine of 21 CAKUT were symptomatic. Six additional patients had other non-CAKUT anomalies (for example, stones, Barter syndrome) that were excluded from association and molecular genetics analysis to avoid bias of inclusion criteria. RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT). No GFRalpha1 mutations were found. Finally, the HSCR-predisposing T haplotype of RET proto-oncogene was found in 64% of HSCR, 50% of HSCR + CAKUT, and in 24% of CAKUT patients. The incidence of CAKUT in HSCR patients is 4- to 6-fold higher than expected. Therefore, a patient with HSCR has a 3- to 18-fold higher risk of developing a CAKUT, particularly hydronephrosis or hypoplasia. If we consider that the proportion of predisposing haplotype in HSCR + CAKUT patients resembles that of other syndromic HSCR, we can conclude that HSCR + CAKUT has to be considered a novel syndromic association. These results need to be confirmed in a larger series. At present, we strongly suggest considering ultrasound screening of the urinary tract in every patient with a diagnosis of HSCR.
Abstract: SPRY2 is an inducible inhibitor of signalling mediated by tyrosine kinases receptors, whose targeting causes intestinal hyperganglionosis in mice. In this light, we have undertaken a mutational analysis of the SPRY2 gene in patients affected with intestinal neuronal dysplasia (IND), without detecting nucleotide changes in any of the 26 DNA samples analysed, with the exception of two already known polymorphic variants. A role of the SPRY2 gene in IND pathogenesis can be thus excluded.
Abstract: Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.
Abstract: Long-term results after surgical treatment of Hirschsprung disease (HSCR) are not always as good as a surgeon may perceive. Several studies have tried to correlate preoperative features to the surgical outcome of HSCR, but none came to definitive conclusions. Our study is aimed at identifying risk factors of poorer long-term outcome after surgery for HSCR.
Abstract: We report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the PHOX2B gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala140 residue with a Glu residue (p.A140E). The present association of LO-CHS and HSCR in a patient harboring a rare and atypical PHOX2B mutation allows to refine the mutational spectrum of this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches.
Abstract: Severe chronic diarrhoea secondary to enterocolitis is a severe complication of Hirschsprung's disease (HSCR). Persistent outlet obstruction, immunologic issues, and mucin/mucous imbalance can cooperate in the development of this complication. Furthermore, isolated reports described severe postoperative chronic diarrhoea mimicking enterocolitis in patients with sucrase-isomaltase deficiency, inflammatory bowel disease (IBD), or intestinal microvillus atrophy. This paper is aimed in describing three patients from our HSCR series who experienced severe chronic postoperative diarrhoea secondary to such uncommon associated anomalies: sucrase-isomaltase deficiency (one patient) and IBD (two patients). With an appropriate sucrose-free diet or immunosuppressive therapy these patients improved dramatically and their diarrhoea settled. These associated anomalies can be diagnosed with digestive endoscopies (both gastro-duodenoscopy and colonoscopy). Therefore, we developed a diagnostic and therapeutic algorithm for patients with chronic diarrhoea after a pull-through, which includes digestive endoscopy to be performed in selected cases.
Abstract: Endorectal pull-through (ERPT) is a widely accepted procedure for the treatment of Hirschsprung's disease (HSCR). This study was aimed at presenting the long-term results of patients with classic HSCR who were operated on with a laparoscopic-assisted Georgeson procedure and to compare them to patients treated with a Soave-Boley procedure.
Abstract: Although Hirschsprung's disease is curable, a low mortality and a certain morbidity have been described by several authors. We will present our experience with the treatment of Hirschsprung's disease at Gaslini Children's Hospital. All patients who underwent a pull-through procedure since January 1993 were included. Data were obtained from a comprehensive questionnaire and from the revision of the notes. The results were subsequently described and compared with regard to age and length of aganglionosis. A total of 151 patients underwent a pull-through. One hundred and twelve of these patients completed the forms and were reviewed. Eighty patients had a classic form, 22 an ultralong. Complications occurred in 28 patients (25%). Postoperative enterocolitis was complained by 25 patients (13% colonic and 59% ultralong forms) and constipation by 15 (equally distributed). Excellent to good continence was experienced by 84% of patients with classic forms and by 68% of patients with ultralong forms. A clear improving trend during growth was evident for patients with ultralong forms. Psychological self-acceptance, patients' perspective and cosmetic results proved to be significantly better for patients with classic forms of the disease. Our study confirmed the complications and long-term sequelae that patients with Hirschsprung's can experience. Early diagnosis can minimise morbidity and mortality and prompt and adequate treatment can reduce the incidence of postoperative complications. The parents should be acknowledged regarding the progressive improvements of function that patients gain during growth, particularly in case of ultralong forms, thus strengthening the need for continuative care and close follow-up.
Abstract: Neural crest (NC) cells differentiate IN VITRO into neuroblasts, precursors of the enteric nervous system (ENS), when stimulated by specific agents. We developed a study aimed at establishing whether NC-derived neuroblasts can survive and colonise IN VIVO when injected into a recipient mouse gut.
Abstract: The necessity of carrying out pre- or intra-operative imaging of the biliary tree to rule out a possible anatomical abnormality or the presence of common bile duct (CBD) stones in patients undergoing laparoscopic cholecystectomy (LC) is debated. We prospectively assessed the risk of developing symptoms related to bile duct injury or CBD stones after LC in children not receiving peri-operative cholangiography.
Abstract: TLX2 (also known as HOX11L1, Ncx and Enx) is a transcription factor playing a crucial role in the development of the enteric nervous system, as confirmed by mice models exhibiting intestinal hyperganglionosis and pseudo-obstruction. However, congenital defects of TLX2 have been excluded as a major cause of intestinal motility disorders in patients affected with intestinal neuronal dysplasia (IND) or pseudo-obstruction. After demonstrating the direct regulation of TLX2 expression by the homeoprotein PHOX2B, in the present work, we have focused on its paralogue PHOX2A. By co-transfections, electrophoretic mobility shift assays and chromatin immunoprecipitation, we have demonstrated that PHOX2A, like PHOX2B, is involved in the cascade leading to TLX2 transactivation and presumably in the intestinal neuronal differentiation. Based on the hypothesis that missed activation of the TLX2 gene induces the development of enteric nervous system defects, PHOX2A and PHOX2B have been regarded as novel candidate genes involved in IND and pseudo-obstruction and consequently analyzed for mutations in a specific set of 26 patients. We have identified one still unreported PHOX2A variant; however, absence of any functional effect on TLX2 transactivation suggests that regulators or effectors other than the PHOX2 genes must act in the same pathway, likely playing a non redundant and direct role in the pathogenesis of such enteric disorders.
Abstract: Some technical aspects of laparoscopic spleen surgery still are debated, although efforts have been made to standardize them. The position of the patient, the approach to the spleen, vessel identification and division, and spleen extraction can vary from center to center.
Abstract: Since Noblett (J Pediatr Surg 1969;4:406-409) described her innovative tool, rectal suction biopsy (RSB) has become the gold standard in the diagnosis of Hirschsprung's disease and other intestinal dysganglionoses. Many different instruments have been developed during the last 30 years, but none of them proved to be free of disadvantages. In 2000, at Gaslini Research Institute, we developed an improved tool to perform RSBs called Solo-RBT (SAMO Biomedica, Bologna, Italy), which has some advantages: (1) the procedure is easily performed by one operator alone; (2) the instrument can be adjusted for each patient according to age and weight; and (3) the instrument can be completely disassembled for decontamination and heat sterilization. This study describes our experience with Solo-RBT in the diagnosis of intestinal dysganglionoses.
Abstract: Varicocele is a rare disorder in children that can lead to testicular atrophy and infertility; therefore, radical treatment is frequently required. Whatever treatment is chosen, postoperative complications are fairly common (hydrocele, recurrence, persistence, and testicular atrophy). Laparoscopic varicocelectomy (the laparoscopic Palomo procedure) is one of the surgical options that has recently gained popularity. The aim of this study is to assess the safety and effectiveness of laparoscopic Palomo varicocelectomy by describing a series of patients operated on during a 9 year period at the Royal Hospital for Sick Children in Edinburgh.
Abstract: This paper describes multiple intraluminal impedance (MII) in 50 children with typical and atypical gastroesophageal reflux (GER) symptoms and discusses the possible clinical significance of objective numeric data provided by MII computed analysis. Patients underwent 24-hr pH/MII monitoring. Reflux parameters were analyzed with relation to age and reported symptoms. Nonacidic MII events occurred as frequently as acidic ones. A Pathologic Bolus Exposure Index associated with a normal pH Reflux Index was detected in 26% of our series. Significant correlations were found regarding acid and bolus clearing times and their ratio. We conclude that the low rate of symptom occurrence in the pediatric population represents a limit on MII evaluation. Our study confirmed that nonacid GER is at least as frequent as acid GER. As MII provides interesting objective data that could be used in clinical practice, we suggest further research to define normal ranges in the pediatric population.
Abstract: Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet worldwide accepted and diagnosed. This report describes the areas of agreement and disagreement regarding definition, diagnosis, and management of IDs as discussed at the workshop of the fourth International Meeting on "Hirschsprung's disease and related neurochristopathies." The gold standards in the preoperative diagnosis of IDs are described, enlighting the importance of rectal suction biopsy in the diagnostic workup. The most important diagnostic features of HD are the combination of hypertrophic nerve trunks and aganglionosis in adequate specimens. Acetylcholinesterase staining is the best diagnostic technique to demonstrate hypertrophic nerve trunks in lamina propia mucosae, but many pathologist from different centers still use H&E staining effectively. Moreover, the importance of an adequate intraoperative pathological evaluation of the extent of IDs to avoid postoperative complications is stressed. Although it is not clear whether IND is a separate entity or some sort of secondary acquired condition, it is concluded that both IND and IASNA do exist. Other interesting conclusions are provided as well as detailed results of the discussion. Further investigation is needed to resolve the many controversies concerning IDs. The fourth International Conference in Sestri Levante stimulated discussion regarding these entities and led to the International guidelines to serve the best interest of our patients.
Abstract: This multicenter survey includes neonates and infants who underwent surgery for primary gastroesophageal reflux (GER) who presented with supraesophageal symptoms of unknown origin with a minimum of 12 months postoperative follow-up.
Abstract: The spontaneous mouse mutant Dominant megacolon (Dom) represents the model of the Waardenburg-Hirschsprung's disease, a syndromic pathology, characterized by the association of pigmentation defects (PD), deafness, and Hirschsprung's disease (HD). The defect in Dom mouse is caused by a spontaneous mutation of the gene encoding the Sry-related transcription factor Sox10. This mutation affects several aspects of neural crest development leading to combined enteric innervation and pigmentation defects, both in mouse and human. The purpose of this report is to define, by enzymo-histochemical techniques routinely used for the diagnosis of human Hirschsprung's disease (AChE, LDH, NADPH-diaphorase), the innervative patterns of the affected gut.
Abstract: The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced.
Abstract: The majority of gastrooesophageal reflux (GER) manifestations in children are supraoesophageal, and "spitting/posseting" is "the tip of the iceberg" because most reflux episodes are not regurgitated. Aim of the present study was to prospectively evaluate the incidence of gastrooesophageal reflux and the incidence of antireflux surgery in patients with difficult-to-treat respiratory symptoms.
Abstract: Perineal sagittal approaches (posterior sagittal anorectoplasty and anterior and posterior sagittal transanorectal approaches) allow complete anatomic exposure of the perineum and lower pelvis. Moreover, they reduce the risk of damaging important structures because the incision is led in the midline. Therefore, many surgeons have used these approaches to treat diseases other than anorectal malformations (ARM), including intestinal dysganglionosis, trauma, pseudohermaphroditism, presacral mass, and rectal duplication. The aim of this study was to describe a small series of patients operated on via these approaches at Gaslini Children's Hospital over a 5-year period. We retrospectively evaluated 10 patients consecutively operated on via a perineal sagittal approach, with or without sphincteric structure involvement, between January 1997 and December 2001. All of these patients were without ARM. Indications included retrorectal abscesses (two), iatrogenic anal canal stenosis (one), postinflammatory anal canal stenosis (one), internal anal sphincter neurogenic achalasia (one), female pseudohermaphroditism (one), benign sacrococcygeal teratomas (two), malignant sacrococcygeal teratoma (one), and perineal rhabdomyosarcoma (one). Protective colostomy was used in four patients. The parameters that we analysed included technical details, possible complications, perineal cosmetic appearance, and outcome. No complications were experienced. The postoperative cosmetic perineal appearance was excellent in all patients, and continence, when assessed, was always considered satisfactory. All tumours underwent complete gross resection. However, one patient with malignant sacrococcygeal teratoma died as a result of the malignant process 2 years after surgery. Although our study was carried out on a small series of patients, it confirmed that perineal sagittal approaches can be used not only for ARM but also for other conditions involving perirectal pouches, presacral space, and urogenital structures, as these approaches are safe and provide excellent cosmetic results as well as satisfactory functional outcome. Although tumours can be treated via these approaches, outcome remains related to the nature and malignancy of the disease itself.
Abstract: The role of surgery is debated for children with gastroesophageal reflux disease (GERD), particularly when they show atypical symptoms. This study was designed to evaluate the safety and outcome of laparoscopic Nissen-Rossetti fundoplication performed in a selected population of children with gastroesophageal reflux and atypical supraesophageal symptoms.
Abstract: Surgical treatment of gastroesophageal reflux (GER) can result in many postoperative problems because of an incorrect indication or an unsuitable fundoplication. Many preoperative tests have been suggested to perform a "tailored fundoplication," but there is no clear evidence as to which is the best. The aim of our study was to define the effectiveness of esophageal manometry in predicting the outcome of children who need fundoplication because of refractory primary gastroesophageal reflux.
Abstract: During the past three decades laparoscopy has significantly improved. As fundoplication extensively benefits by the great advantages of the minimally invasive approach, many surgeons chose laparoscopic fundoplication for the treatment of gastroesophageal reflux in adults and children as well. Pneumothorax, cardiovascular collapse, hypoxia, and hypercarbia are some of the anesthesiologist's principal fears during carbon dioxide insufflation. Thus, monitoring cardiovascular and respiratory status is mandatory to early detect any complication and to maintain a proper balance during pneumoperitoneum.
Abstract: General consensus on the optimal treatment of septic infants with primary high-grade vesicoureteric reflux (VUR) and renal function impairment has not been reached. Our study aims at evaluating the role of temporary urinary diversion.
Abstract: Esophageal achalasia is not a frequent disorder in children and different treatments have been proposed during past decades. This study reviews the results of the laparoscopic Heller-Dor procedure performed in pediatric patients in two different surgical units.
Abstract: The laparoscopic approach has become increasingly popular for fundoplication over the last few years; however many surgeons are skeptical about its real advantages.
Abstract: Peritoneal adhesions (PA) represent a major cause of morbidity in pediatric surgical patients. The pathogenesis is still largely unknown. A possible role could be played by foreign bodies (FB) accidentally contaminating the operative field during surgery. We report a histologic study of PA in a rat model and in children, investigating the role of FB in their formation. Abdominal adhesions were studied in 18 rats. In 6 (group A) we performed a laparotomy and rubbed the visceral and parietal peritoneum with a cotton bud. In 6 (group B) we performed a minimal laparotomy and injected powdered autologous and heterologous material into the peritoneal cavity, avoiding any peritoneal abrasions. In 6 (group C) we performed a laparotomy and applied both treatment methods, i.e., rubbing and injection of FB. After 1 month, at autopsy rats were classified according to the presence and grade of surgical adhesions. Twenty-two PA were also collected from seven children undergoing abdominal surgery in whom one or more procedures had been previously performed. The adhesions were stained with hematoxylin-eosin and Giemsa stains for histologic examination. Adhesions were found in 4 rats of group A and all 6 rats of group C. None were identified in group B. Group C rats showed a higher grade of adhesions with respect to group A. In both humans and animals PA were always found to coexist with microscopic particles of solid substances, which were incorporated inside the connective tissue. However, after simple injection of FB into the abdominal cavity we did not observe any PA. These data suggest that two different stimuli are necessary for adhesion formation: a direct lesion of the mesothelial layers and a solid substrate (FB). We underline the importance of reducing contamination with FB during surgery. On the basis of these considerations, the laparoscopic approach seems to be particularly pertinent.
Abstract: Skepticism is still present today about the laparoscopic treatment of gastro-esophageal reflux (GER) in children. We present the prospective experience and short-term results of eight Italian pediatric surgical units.
Abstract: Intestinal neuronal dysplasia (IND) is a complex alteration of the enteric nervous system (ENS) that may involve rectum, colon, or the whole intestine. This disorder is a frequent cause of intestinal dysmotility and pseudo-obstruction in the first 3 years of life. The aim of this study was to identify possible associations and correlations of IND with other gastrointestinal and nongastrointestinal anomalies.
Abstract: The most commonly used acetylcholinesterase (AChE) method for the diagnosis of Hirschsprung's disease (HD) and intestinal neuronal dysplasia (IND) was first introduced in 1964 by Morris Karnovsky and Logan Roots. This technique requires about 80 - 120 minutes incubation time and cannot be used for the intraoperative diagnosis of HD and IND. To avoid these limitations, in 1994 Kobayashi et al first proposed an accelerated modified method in two different versions, the first using diaminobenzydine (DAB) reagent, the second using 4-chloro-1-naphthol as final reagent. In the present study, we propose a new rapid variation of AChE staining which avoids the use of DAB and naphthol, notably toxic reagents, but follows the same acceleration principle of Kobayashi's technique. Our modified rapid AChE requires a total incubation time of only 8 minutes, which is compatible with intraoperative histochemical examination purposes. Intraoperative seromuscular or full-thickness intestinal biopsies were obtained from 92 children affected by intestinal dysganglionoses. The biopsies were frozen and cut in 15 microm cryostatic sections. Rapid AChE was performed with a special incubation medium using 3-amino-9 ethylcarbazole (AEC) as chromogenic substance. The two complementary histochemical techniques alpha-naphthylesterase (ANE) and lactate-dehydrogenase (LDH) were also used intraoperatively for the staining of ganglion cells. The diagnosis was confirmed postoperatively with conventional AChE Karnovsky technique, comparing the extensions of hyperganglionic, hypoganglionic and aganglionic segments in each studied case. The new rapid AChE modified method can identify ganglion cells and fibers using a dark brown precipitate. In all the cases studied, the intestinal innervation pattern identified with this modified technique was similar to that obtained with Karnovsky AchE. Seventy-eight HD, 8 isolated IND and 6 HD associated with an evident IND segment were diagnosed. This new rapid AChE histochemical technique avoids the use of DAB and naphthol, and can thus be considered safe for operators. Rapid AChE is a valid tool for both the evaluation of aganglionosis extension and for the identification of IND pattern during surgery. We recommend this very reliable method for the intraoperative diagnosis of HD and IND, in association with other enzymatic markers of ganglion cells (ANE or LDH). We propose the following diagnostic protocols: a) for preoperative histochemical study: conventional AChE plus LDH and NADPH-diaphorase; b) for intraoperative study: rapid AChE plus ANE.
Abstract: Preoperative histochemistry on rectal mucosal-submucosal specimens is the most important step in the diagnosis of Hirschsprung's disease and other dysganglionoses. Today, rectal mucosal-submucosal biopsy specimens are obtained by suction with the widely used tool first designed by Noblett in the late 1960s. The authors developed a new instrument, for which a patent has already been filed, for one-hand execution of rectal suction biopsies, which will make this operation easier and faster.
