Hirschprungs

Fecaloma is common in patients with damage to the autonomic nervous system in the large bowel associated with Chagas disease (inflammatory and neoplastic) or Hirschprung's disease, in psychiatric patients and, more commonly, in elderly patients suffering with chronic constipation. Symptoms of fecaloma are usually nonspecific. Clinical examination can give the appearance of an abdominal tumor. Most cases of fecaloma are treated conservatively with digital evacuation and enemas. In severe and unremitting cases, surgery is required to prevent significant complications...

BACKGROUND: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4...

PURPOSE: Voltage-dependent K(+) channels (Kv channels) participate in electrical rhythmicity and smooth muscle responses and are regulated by excitatory and inhibitory neurotransmitters. Kv channels also participate in the interstitial cell of Cajal (ICC) and smooth muscle cell (SMC) responses to neural inputs. The Kv family consists of 12 subfamilies, Kv1-Kv12, with five members of the Kv7 family identified to date: Kv7.1-Kv7.5. A recent study identified the potassium channel Kv7.5 as having a role in the excitability of ICC-IM in the mouse colon...

Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease...

Neural crest cells (NCCs) are a population of multipotent cells that migrate extensively during vertebrate development. Alterations to neural crest ontogenesis cause several diseases, including cancers and congenital defects, such as Hirschprung disease, which results from incomplete colonization of the colon by enteric NCCs (ENCCs). We investigated the influence of the stiffness and structure of the environment on ENCC migration in vitro and during colonization of the gastrointestinal tract in chicken and mouse embryos...

BACKGROUND: Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same. CASE REPORT: This 31+4/7 male infant at autopsy had marked narrowing of the jejunum (0.9 cm long), and colon (7.0 cm long) markedly narrowed segments of the jejunum and large intestine, were noted respectively. Sections from these segments showed eosinophilic periodic acid Schiff stain and desmin positive cytoplasmic inclusion bodies in the myocytes...

BACKGROUND: Intestinal obstruction (IO) is a common pediatric surgical emergency in sub-Saharan Africa with high morbidity and mortality, but little is known about its etiopathogenesis in Malawi. METHODS: Retrospective analysis of patients seen from February 2012 to June 2014 at Kamuzu Central Hospital in Lilongwe, Malawi (n = 3,407). Pediatric patients with IO were analyzed (n = 130). RESULTS: Overall, 57% of patients were male with a mean age of 3...

Failure of neural crest cells to migrate from neural crests during intrauterine development result in partial or total aganglionosis of the colon in newborn. Hirschprung's disease (HD) represents the clinical manifestation of this pathogenic process, currently accounting for the majority of lower intestinal obstruction in the first period of life. Our aim was to present a series of three cases presenting to our tertiary care center with a range of symptoms, all benefiting from surgery and consequent pathology examination of biopsy or resection pieces...

INTRODUCTION: This study aims to describe laparoscopic reoperation (LSR) and compare its outcomes with transabdominal reoperation (TAR) for treating Hirschsprung's disease (HD). PATIENTS AND METHODS: Eighteen patients with HD underwent reoperation for recurring constipation due to residual aganglionosis and transition zone pathology after an initial transanal procedure (LSR, n=10; TAR, n=8). Preoperative, operative and postoperative data were collected through patient follow-ups ranging from 13 to 75months to compare operative characteristics and postoperative outcomes between the two groups...

BACKGROUND: Bowel function has been reported to be adversely affected following surgery in cases of Hirschsprung. We retrospectively studied both the clinical outcome and bowel function status following surgery in patients diagnosed with Hirschprung's disease (HD). 161 cases, who underwent pull-through operations for HD in Sheikh Pediatric Tertiary Centre, Mashhad, Iran. The specified time bracket spanned between 2006 and 2011. MATERIALS AND METHODS: Data was extracted from Health Information System with the aim of investigating patients for both short and long-term gastrointestinal (GI) complications after surgery bases in addition to the concurrence of any associated anomalies...

Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article...

Enteric nervous system progenitor cells isolated from postnatal human gut and cultured as neurospheres can then be transplanted into aganglionic gut to restore normal patterns of contractility. These progenitor cells may be of future use to treat patients with Hirschprung's disease, a congenital condition characterized by hindgut dysmotility due to the lack of enteric nervous system ganglia. Here we demonstrate that progenitor cells can also be isolated from aganglionic gut removed during corrective surgery for Hirschsprung's disease...

Lactococcus lactis is a gram-positive coccus that is nonpathogenic in humans. Herein, we present the case of a 1-year-old boy with Down syndrome and Hirschprung's disease (HD) who developed a catheter-related bloodstream infection with L. lactis after gastrointestinal surgery. The patient had been hospitalized in the pediatric surgery unit from birth because of HD, and had undergone the Duhamel-Martin procedure which caused recurrent diarrhea episodes and feeding intolerance. On the infant's 430th day of life, he had an episode of gastroenteritis and feeding intolerance...

In this study we aimed to evaluate the usability of calretinin staining in the diagnosis and exclusion of HD in 36 rectal biopsies. Through immunohistochemical examination, in of a total of 21 pediatric patients in whom ganglion cells were detected in first rectal biopsies and in re-biopsies, ganglion cells were seen through nuclear and cytoplasmic staining. In the lamina propria and superficial submucosa, staining of nerve fibers was detected in a granular pattern in varying intensities. Out of a total of 5 biopsies (including one re-biopsy) of non-HD patients, where ganglion cells could not be seen, the nerve fibers were all stained...

Hirschprung's disease (HD), a very common congenital abnormality in children, occurs mainly due to the congenital developmental defect of the enteric nervous system. The absence of enteric ganglia from the distal gut due to deletion in gut colonization by neural crest progenitor cells may lead to HD. The capacity to identify and isolate the enteric neuronal precursor cells from developing and mature tissues would enable the development of cell replacement therapies for HD. However, a mature method to culture these cells is a challenge...

OBJECTIVE: To analyze our ten year experience of surgical treatment of children with chronic colonostasis of different origin. MATERIAL AND METHODS: The study covers 353 children aged from 1 day to 17 years with colonic stasis who undergo treatment at the Department of Children's Surgery, Bukovinian State Medical University, Cernăuţi, Ukraine. Study design included case history, physical examination, routine clinical and biochemical laboratory tests, endoscopy (sigmoidoscopy, colonoscopy), X-ray (irrigoscopy, irrigography, other radiopaque techniques) methods, and sphincterometry...

Congenital central hypoventilation syndrome (CCHS) is a well-recognized disorder of the autonomic nervous system caused by mutations in the PHOX2B gene. The most characteristic feature is failure of ventilatory control, resulting in the need for respiratory support while asleep, and in some cases when awake also. Most cases present in infancy or early childhood. Technological advances allow patients with mild to moderate phenotypesto receive adequate support by non-invasive ventilation (NIV), or diaphragm pacing (or combination of the two) avoiding the need for long-term ventilation by tracheostomy...

PURPOSE: Antegrade continent enema (ACE) procedures have been used as a treatment of constipation and soiling. Little is known about the long-term results of these procedures, particularly as patients progress into adulthood. This study presents the long-term outcomes of ACE in children, with follow up into adulthood, over a fifteen-year period. METHODS: A prospective database of all consecutive procedures performed from 1998 to 2013 by a single surgeon in a regional centre was analysed...

It was analyzed the treatment results of 24 patients under the age of 2 years with total aganglionosis for the period from 2000 to 2013. Each of these patients underwent several surgical interventions (on the average 7.8±2.1). All children were operated radically. It was performed ileojejunorectal anastomosis at transitional fold of peritoneum in patients with concomitant short bowel syndrome. Soave's operation was done in 14 patients including by using of laparoscopic technique in 3 cases. Inflammatory complications (paraproctitis) developed in 2 children on maceration background...

BACKGROUND: Green stain is an uncommon clinical condition associated with deposition of bilirubin in the dental hard tissues. The staining of the teeth is due to hyperbilirubinemia caused by systemic conditions. CASE REPORT: The purpose of this report is to present a case of green teeth of the primary dentition in a 17-month old girl associated with hydrocephalus and Hirschprung's disease. CONCLUSION: The clinical characteristics of the teeth may help in the diagnosis of current or past systemic diseases...