Plasticity of the enteric nervous system in patients with intestinal neuronal dysplasia associated with Hirschsprung's disease: a report of three patients

Intestinal neuronal dysplasia is a controversial form of dysganglionosis that has been described both as an isolated disorder and in association with Hirschsprung's disease. It has been blamed for the bad outcome of bowel function in patients operated on for Hirschsprung's disease. According to various authors, intestinal neuronal dysplasia could be a primary disorder or secondary to other diseases of the bowel. The aim of this study was to assess the plasticity of the enteric nervous system in patients with Hirschsprung's disease-associated intestinal neuronal dysplasia and its ability to evolve spontaneously to normal innervation patterns. Since we prospectively introduced the assessment of the enteric nervous system of the ganglionated bowel in patients operated on for Hirschsprung's disease, 31 patients have been operated on for Hirschsprung's disease in our institution between 1995 and 2002. Among these patients, nine suffered postoperatively from severe constipation and five from bouts of entocolitis. IND was found in eight of them. We studied the evolution of the innervation in three of these patients by repeated serial full-thickness biopsies of the colon. All three patients underwent a colostomy before or after the pull-through procedure. Histopathological assessment of the enteric nervous system was made with conventional acetylcholinesterase histochemistry, rapid acetylcholinesterase histochemistry and immunohistochemistry for the Protein Gene Product 9.5 and the antigen CD56. This evolution was compared with the clinical outcome of bowel function. In our three patients with Hirschsprung's disease-associated intestinal neuronal dysplasia, this form of dysganglionosis evolved to normal innervation patterns within a period ranging from 9 to 18months. This evolution was accompanied by an improvement of bowel function in all. We conclude that Hirschsprung's disease-associated intestinal neuronal dysplasia can evolve to a normal innervation, at least under certain circumstances such as a colostomy. Specific histopathological techniques are required to assess accurately the enteric nervous syste

Mermaid syndrome: virtually no hope for survival

Abstract.: Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a "mermaid” is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion of well-developed legs) is presented. No prenatal diagnosis was made and the newborn had an uneventful neonatal course following Cesarean section delivery. The complex and striking malformation was obvious at birth and further evaluation revealed very poorly functioning kidneys, associated with abnormal anorectum, urogenital tract, and external genitalia, as well as a pelvic malformation. Supportive care was applied because of the poor prognosis and the child died at 7weeks of age, due to renal failur

Hirschsprung's disease: the "Swiss roll” technique revisited

Purpose: During pull-through for Hirschsprung's disease (HSCR), the assessment of innervation is mainly based on the presence of ganglion cells when conventional Hematoxylin and Eosin (HE) staining is used. In hypoganglionosis, the evaluation is difficult. We adapted a standardized methodology for the examination of resected bowel after HSCR surgery, using the technique described by Moolenbeek on rodent intestine and later by Meier-Ruge in children. We have analysed the entire innervation of surgically resected bowels and compared the results with the follow up of patients. Methods: Three longitudinal strips of colon were harvested from the mesenteric, anti-mesenteric and intermediate part in the whole length of resected colon of six patients with HSCR. Each strip was divided into two parts. One of the contiguous strips was assessed with HE and Hematoxylin-Phloxin-Safran, and the other one with acetylcholinesterase (AChE) histochemistry. We analyzed the distribution of ganglion cells and nerve arrangement along the strips with both techniques and compared the results obtained in the three different regions of the bowel. Results: There was no significant difference in the pattern of innervation circumferentially. There was a correlation between a progressive increase of AChE activity and nerve hypertrophy and a decrease of ganglion cells from the proximal to the distal part of the resected colon in the submucosa and the myenteric plexus. Nerve hypertrophy and AChE-positive reaction in the mucosa were found at the resection border in patients who presented postoperative complications. Conclusions: Simultaneous assessment of nerve cells, nerve fibers and AChE activity is important in the evaluation of the innervation of the bowel segment proximal to the aganglionic zone. The method described is feasible and can be adapted to older children and adults with larger bowels. These results point out the importance of assessing nerve fibers in intraoperative biopsies during pull-through procedures to prevent uncomplete surgical bowel resectio

Interstitial cells of Cajal are normally distributed in both ganglionated and aganglionic bowel in Hirschsprung's disease

Surgery for Hirschsprung's disease is often complicated by post-operative bowel motility disorders. The impact of intestinal neural histology on the surgical outcome has been previously studied, but no information is available concerning the influence of the distribution of interstitial cells of Cajal (ICC) on these complications. These cells are considered to be pacemakers in the gastrointestinal tract. The aim of this study was to assess the distribution of ICC in the proximal segment of resected bowel in Hirschsprung's disease and confront these results with the clinical outcome. Using immunohistochemistry for light microscopy, we compared the pattern of distribution of ICC in the proximal segment of resected bowel in Hirschsprung's disease with that in normal colon. We correlated these results with the corresponding neural intestinal histology determined by CD56 and the protein gene product 9.5 immunohistochemistry. The distribution of ICC in the proximal segment of resected bowel is identical to that of normal colon, regardless of normal or abnormal colon innervation. ICC distribution does not seem to contribute to post-operative bowel motility disorders in patients operated for Hirschsprung's diseas

Success and Failure for Children Born with Facial Clefts in Africa: A 15-Year Follow-up

Background: This study reviews the 15year program of our Department of Pediatric Surgery for the treatment and follow-up of children born with a cleft in Benin and Togo. Methods: We analyzed files of children born in Africa with a cleft. They were referred to us through a nongovernmental organization (NGO) between 1993 and 2008 and assessed in Africa by local pediatricians before and after surgery. Operations were performed by our team. Results: Two hundred files were reviewed: 60 cases of unilateral cleft lip, seven of bilateral cleft lip, 44 of unilateral cleft lip palate (UCLP), 29 of bilateral cleft lip palate (BCLP), 53 of cleft palate (CP), three of bilateral oro-ocular cleft, one of unilateral and two of median clefts (Binder), and one of commissural cleft. Sixty-nine (35%) of these cases were not operated in Africa: 25 (12.5%) had not shown up, 28 (15%) were considered unfit for surgery (Down's syndrome, HIV-positive, malnutrition, cardiac malformation), and 16 (7.5%) were transferred to Switzerland. Palatal fistula occurred in 20% of UCLP, 30% of BCLP, and 16% of CP. Evaluation of speech after palate surgery gave less than 50% of socially acceptable speech. Conclusions: Our partnership with a NGO and a local team makes it possible to treat and subsequently follow children born with a cleft in West Africa. Surgery is performed under good conditions. If aesthetic results are a success, functional results after palate surgery need further improvement to promote integration in school and social lif

Introduction of a urodynamic score to detect pre- and postoperative neurological deficits in children with a primary tethered cord

Object: An increasing number of asymptomatic children are diagnosed with occult spinal dysraphism, raising the question of their optimal management. Urodynamic study (UDS) is the most reliable method of detecting neuro-urological abnormalities in these children. The rate of postoperative retethering ranges from 10 to 20% and is not always immediately clinically significant. The aim of this prospective study was to develop a reliable method that could be used in the preoperative assessment and postoperative follow-up of children with a tethered cord syndrome (TCS). Methods: From 1989 to 1997, 15 children underwent spinal cord untethering for TCS. Preoperatively, patients were assessed with MRI and UDS. Postoperative UDS were repeated at 6- to 12-month intervals. Four UDS parameters were identified, graded, and added to obtain a UDS score. A group of 38 children without dysraphic condition was used as control and allowed the calculation of a normal score. Conclusions: There was a statistically significant difference in the preoperative UDS scores between the control group and the study group (p<0.001). Postoperatively, there was a statistically significant improvement (p<0.001) in UDS scores. UDS score is a reliable tool for identifying and quantifying neuro-urological disorders in patients with TCS. Postoperatively, this score was useful in the early diagnosis of spinal cord retetherin

Management of cryptorchidism in children: guidelines

QUESTION: To develop clinical guidelines for the management of cryptorchidism in pre-pubertal boys, from early diagnosis through therapy to long-term follow-up and prognosis. METHOD: Systematic review of articles from the medical literature, referenced since 1966, using validated search strategies through the following databases: Medline, Cochrane Database of Systematic Reviews, Cochrane Register of Controlled Trials, EMBASE, DARE, ACP Journal Club, National Guidelines Clearinghouse, Guidelines International Network. Relevant articles published after 1988 were taken as the basis for the statements. Each statement was graded on the basis of the study design and on its methodological quality (GRADE approach). A multidisciplinary panel of local experts discussed and evaluated each statement on the strength of this evidence. RESULTS: 28 statements based on the best available evidence were drafted. The experts agreed with all but two statements, which were rated uncertain. CONCLUSIONS: Cryptorchidism is best diagnosed clinically, and treated by surgical orchiopexy at age 6-12 months, without a routine biopsy. If no testis is palpable, or if other signs of hypovirilisation such as hypospadias are present, the chromosomal sex and hormonal status must be assessed. Laparoscopy is the best way of diagnosing and managing intra-abdominal testes

Microalbuminuria and hyperfiltration in subjects with nephro-urological disorders

Background Microalbuminuria (MA) has been shown to be an early biomarker of renal damage. It is postulated that MA is the early result of hyperfiltration, which could evolve into glomerular sclerosis and renal failure if hyperfiltration is left untreated. We hypothesized that MA is a good indicator of hyperfiltration in children with kidney disorders, obviating the need to calculate the filtration fraction (FF). Methods A total of 155 children or young adults were prospectively included [42 single kidney (SK), 61 vesico-ureteral reflux, 23 obstructive uropathies, 29 other kidney diseases]. We measured inulin, para-aminohippuric acid clearances, FF and MA. Prediction of hyperfiltration was explored by studying the association between the FF and other variables such as urinary albumin (Alb), urinary albumin-creatinine ratio (ACR) and creatinine clearance. Results A significant but weak association between urinary Alb or ACR and FF was found in subjects with an SK (Spearman correlation coefficients 0.32 and 0.19, respectively). Multivariate analysis also showed that urinary Alb and ACR significantly predict FF only in subjects with an SK (r2 = 0.17, P = 0.01 and r2 = 0.13, P = 0.02, respectively). This holds true only in subjects with an SK and inulin clearance >90 mL/min/1.73 m2 (r2 = 0.41, P < 0.001). There was no association between creatinine clearance and FF. Conclusions MA is not associated with FF in our subjects with nephro-urological disorders, except in those with an SK, where the association is weak, indicating that MA is due to other mechanisms than high FF and cannot predict hyperfiltration in such group

Pédiatrie [News in paediatrics]

Every pediatrician will be confronted with newborns oryoung infants with skin lesions in proximity of the vertebral column. It is important not to miss a spinal dysraphism because of the risk of meningeal infection or of the possible presence of a tethered cord. A practical algorithm is presented. Non-accidental injury in young infants and toddlers is not rare but difficult to detect. Bruises and fractures are highly suspicious for non-accidental injury and should trigger specific investigations. Emergency departments and hospitals are switching from hypotonic to isotonic solutions as maintenance infusions of children. They reduce the risk of hyponatremia without increasing that of hypernatremia, and they should be used preferentially in the majority of pediatric clinical settings

Safety and tolerability of rifaximin for the treatment of irritable bowel syndrome without constipation: a pooled analysis of randomised, double‐blind, placebo‐controlled trials

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106831/1/apt12735.pd