Rectal suction biopsy in the workup of childhood chronic constipation: indications and diagnostic value.
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Biopsy↗
Biomedical subjects
Giuseppe Martucciello
Publications and source records attributed to Giuseppe Martucciello.
Gastrointestinal phenotype of ATR-X syndrome.
X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
Child, Preschool↗
Complete penoscrotal transposition.
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Abnormalities, Multiple↗
HLXB9 homeobox gene and caudal regression syndrome.
BACKGROUND: Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the spinal column, anorectal malformations (ARMs), genitourinary anomalies, and pulmonary hypoplasia. The combination of a particular form of hemisacrum, ARM, and presacral mass (teratoma, anterior meningocele, rectal duplication, or a combination thereof) constitutes Currarino syndrome (CS). Previous reports have shown HLXB9 to be a major causative gene for CS. The aim of our study was to reevaluate the involvement of the HLXB9 gene in a larger group of CRS cases. METHODS: SSCP analysis was performed on a series of 48 CRS cases without CS. A case-control approach was used to test whether an alteration of the length of the GCC triplets in exon 1 of the HLXB9 gene could contribute to CRS risk. RESULTS: No pathological variants of the HLXB9 gene were identified by mutational analysis. We also found no evidence that the length of the GCC triplets had any effect on the CRS risk, even when the allelic frequencies were stratified according to the presence or absence of ARMs and the type of sacral agenesis. CONCLUSIONS: We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS.
Abnormalities, Multiple↗
Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients.
INTRODUCTION: 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. MATERIALS AND METHODS: Between February 2000 and January 2005, we performed RSBs on 389 patients. Detailed information regarding patients, technique, histochemical staining, diagnostic criteria, complications, and diagnoses are provided. Moreover, patients were divided in 3 age-related groups to compare results. RESULTS: One thousand twelve biopsies were performed on 389 patients. Age range at biopsy was 4 days to 66 years. Median age was 2.4 years. Each patient underwent a mean of 2.6 biopsies. Fifty-nine patients experienced complications, including 2 persistent rectal bleedings (0.5%) in patients younger than 1 year and 57 inadequate biopsies (14.5%). Neither perforation nor pelvic sepsis occurred. Sixty-five cases of Hirschsprung's disease and 58 of intestinal neuronal dysplasia have been diagnosed with Solo-RBT. CONCLUSIONS: The very low incidence of major complications proved that Solo-RBT is safe and effective. The wide age range at biopsy confirms the great versatility of this tool. Our study demonstrated that age does not represent a risk factor for inadequacy of the specimen; however, it showed that patients younger than 1 year have a higher risk of major complications. Therefore, although Solo-RBT increases safety and reliability of RSBs, great attention should be paid when this procedure is performed in newborns and infants.
Adolescent↗
Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies.
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.
Child↗
Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations.
BACKGROUND: Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and assessment systems. METHODS: The goals of the Krinkenbeck Conference on ARM was to develop standards for an International Classification of ARM based on a modification of fistula type and adding rare and regional variants, and design a system for comparable follow up studies. RESULTS: Lesions were classified into major clinical groups based on the fistula location (perineal, recto-urethral, recto-vesical, vestibular), cloacal lesions, those with no fistula and anal stenosis. Rare and regional variants included pouch colon, rectal atresia or stenosis, rectovaginal fistula, H-fistula and others. Groups would be analyzed according to the type of procedure performed stratified for confounding associated conditions such as sacral anomalies and tethered cord. A standard method for postoperative assessment of continence was determined. CONCLUSIONS: A new International diagnostic classification system, operative groupings and a method of postoperative assessment of continence was developed by consensus of a large contingent of participants experienced in the management of patients with ARM. These methods should allow for a common standardization of diagnosis and comparing postoperative results.
Anal Canal↗
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype.
BACKGROUND/PURPOSE: 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. METHODS: Fifty-four siblings of Heterozygous Dom/+ mice underwent autopsy and were genotyped by direct sequencing of polymerase chain reaction (PCR) products for Sox10 mutations. The enteric nervous system of all the mice was studied by histochemical techniques indicated above. RESULTS: Genotyping showed that 43 mice were Dom/+ and 11 were Wild type +/+. Wild-type +/+ mice were used as control. The correspondence between genotype and at least 1 phenotypic aspect (PD or dysganglionosis) was present in 93% of cases (41 of 43). Among the Dom/+ mice, dysganglionosis was present in 79% of cases and PD in 90% of cases. Moreover, among Dom/+ mice, excluding those whose mantle was not evaluated as dead just after birth, PD and dysganglionosis (complete phenotype) were present in 68% of cases. CONCLUSIONS: The histochemical methods that we used proved to be useful for identification of different aganglionic (AG), hypoganglionic (HG), and normoganglionic segments of Dom/+ mouse gut studied in longitudinal sections. Unlike humans, control mice (Wild type +/+) presented a rich component of AChE nerve fibers, whereas Dom/+ mice with dysganglionosis presented a decrease in AChE-positive nerve fibers. These data confirm the variable phenotypic penetrance in heterozygous mice. Because dysganglionosis in this animal model (Dom/+) was evident in 79% of cases (AG or HG), we concluded that Dom mice could represent important models for further experimental studies.
Acetylcholinesterase↗
Results of a mechanical Duhamel pull-through for the treatment of Hirschsprung's disease and intestinal neuronal dysplasia.
BACKGROUND/PURPOSE: The authors analyzed the results of a modified entirely mechanical Duhamel pull-through for the treatment of Hirschsprung' disease or type B intestinal neuronal dysplasia. The aim of the follow-up was to evaluate results of a Duhamel procedure entirely performed with the use of staplers. METHODS: Fifty-six patients were followed up to detect complications and outcome. Patients were evaluated clinically, and, when symptoms were present, a suction biopsy with histochemical analysis, an x-ray contrast enema, or an endoscopy was performed. RESULTS: Early complications developed in 4 cases (7%) including a case of leakage (1.8%). No patient experienced recurrence. During a mean follow-up of 49 months, further complications occurred in 16 other patients: 4 adhesive obstructions requiring surgery, 3 strictures, 5 chronic bleeding, 4 fecaloma formation, 2 urinary problems, and 13 postoperative enterocolitis. Four patients (7%) had more than 3 passages of liquid stools per day, and 3 of them who had an ileal pull-through had constant soiling. Thirty-seven children (68.5%) had 1 to 2 bowel movements per day and were continent. Seven (13%) had less than 3 bowel movements per week. Three children who underwent total colectomy were incontinent (5.5%). Three more children (5.5%) have not yet reached the age for continence. Forty-nine parents (87%) judged the outcome satisfactory. CONCLUSIONS: Follow-up of mechanical Duhamel pull-through showed an acceptable long-term outcome. An increased risk of incontinence is present in case of ileal pull-through, whereas constipation is more frequent after partial colon resection, regardless of the type of intestinal neuronal malformation.
Abnormalities, Multiple↗
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.
Intestinal Neuronal Dysplasia (IND) is a congenital disorder characterized by intestinal motility defects associated with hyperplasia of enteric ganglia. A phenotype resembling human IND has been observed in mice knocked-out for a member of the Hox11 homeobox gene family, Hox11l1, suggesting that the human homologue of this gene could be responsible for congenital disorders of intestinal innervation. However, previous mutation analysis of the coding sequence of the HOX11L1 gene in patients affected with IND detected neither mutations nor other nucleotide variants. In the present work, a detailed study of the non coding promoter region of this gene was undertaken in patients affected with IND, with Hirschsprung associated IND and with neurogenic chronic intestinal pseudo-obstruction. No alterations potentially impairing expression of HOX11L1, such as nucleotide variants, small deletions or cytogenetic alterations, could be identified thus further excluding the direct involvement of this gene in the pathogenesis of human intestinal motility disorders.
Autonomic Nervous System Diseases↗