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PubMed2004

Risk factors in the primary management of anorectal malformations in Northern India.

The purpose of this study was to determine the major factors influencing the survival of babies with anorectal malformation (ARM) during the primary management in the neonatal period in a tertiary referral center. The outcome of 125 neonates with ARM, treated in a single hospital during a 2-year period, was analyzed retrospectively with particular reference to birth weight, time of arrival, and the type of ARM, including pouch colon and major associated anomalies, to see whether any of them had a significant effect on initial survival. High ARM (HARM) was present in 75, low ARM (LARM) in 36, and pouch colon in 14 babies. There were a total of 28 deaths (22%). In babies with isolated HARM weighing >2.5 kg and brought to the hospital within the first 48 h of life, the survival was 100%, which dropped to 80% when brought later than 48 h. Of the babies with birth weight <2.5 kg and isolated HARM but who were brought to the hospital within the first 48 h of life, 80% survived, whereas of those reaching the hospital after 48 h, only 55% survived. Two babies with pouch colon and two of the four babies with LARM and associated anomalies died. In the HARM group, of the 31 babies with major associated anomalies, only 37% with birth weight <2.5 kg and 58% with birth weight >2.5 kg survived. Low birth weight, major associated anomalies, and delay in referral were the three important factors that influenced the outcomes of babies with ARM during the neonatal period.

Anal Canal↗
PubMed2004

Long-term outcomes of anorectal malformations.

Anorectal malformations (ARMs) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tracts. They affect approximately 1 in 3,500 live births. The treatment of these patients has traditionally focused on achieving urinary and faecal continence, with preservation of renal function. With improved surgical techniques and paediatric intensive care facilities, these patients now live relatively normal lives, with a near-normal life expectancy. Comparing results reported by different surgeons is difficult because a wide range of terminology is employed to describe the anomalies encountered. This paper attempts to simplify some of the reported outcomes of bowel function to allow a more direct comparison between groups. Urinary outcomes were not so easily comparable due to the disparity in assessing patient outcomes. Therefore, before a global analysis of all groups can take place, a standardised terminology will be necessary. At present there is a gap in the published literature of comprehensive follow-up in this group of patients, particularly regarding reproductive and sexual functioning. More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child.

Anal Canal↗
PubMed2005

Asymptomatic gastric duplication in a child: report of a new case and review of the literature.

Antral duplication cyst with an antral mucosal lining accounts for 2.2% of all gastric duplications, which represent 4-8% of all alimentary tract duplications. They usually become symptomatic before 2 years of age. We report a 6-year-old child with no previous history of symptoms who was admitted to our hospital because of frequent vomiting and acute abdominal pains for the previous 2 days. Abdominal examination revealed a mass in the epigastric area.

Abdominal Pain↗
PubMed2006

Perineal lipomas associated with anorectal malformations.

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.

Adolescent↗
PubMed2006

Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area.

Digestive System Abnormalities↗
PubMed2002

125I-labeled galanin binding sites in congenital innervation defects of the distal colon.

Neuropeptides have turned out to be promising new parameters, in addition to the routinely performed histochemical diagnosis, of Hirschsprung's disease (HD). Studies of the peptidergic innervation of the affected intestinal segment of patients with HD have demonstrated a marked reduction in the density of several neuropeptide-containing nerve fibers. The frequency of nerve fibers storing the neuropeptide galanin (GAL) was found to be unchanged or slightly reduced in HD, but nothing is known about the occurrence of GAL receptors. In this study, in vitro receptor autoradiography using (125)I-labeled GAL and GAL immunofluorescence have been performed on frozen tissue sections from colon biopsies of 10 patients diagnosed with HD, 8 patients with intestinal neuronal dysplasia (IND B) and 20 patients with chronic obstruction but normal innervation. Binding sites were mainly detected in the mucosal and muscular layer, in acetylcholinesterase-positive nerve fiber bundles and ganglia within the submucosal layer and in close association to blood vessels. An increased population of GAL receptor positive, parasympathetic nerve fibers was seen in the aganglionic segment of HD as compared to controls and IND B. In contrast, GAL immunostaining which was unchanged in HD revealed a significant lack of GAL-positive structures in IND B colon biopsies. Colocalization of GAL and GAL binding sites was only observed in thick nerve fibers in the submucosa. The presence of GAL binding sites in different cellular structures suggests an involvement of GAL in various physiological functions of the gastrointestinal tract.

Adolescent↗
PubMed1999

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition, the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders.

Anal Canal↗
PubMed2002

Congenital double pyloric ostium in the adult.

Duplication of the pylorus, an extremely rare congenital anomaly of the stomach, consists of two openings connecting the antrum of the stomach to the duodenal bulb. Approximately 70 cases of double pylorus have been described in the literature, most of which are associated with the presence of chronic peptic ulcers, thus indicating an acquired origin of the condition. We report a case of congenital double pylorus in a 64-year-old man who complained about mild postprandial epigastric discomfort and nausea of approximately 3 months' duration. Endoscopic examination of the stomach showed a double pyloric ostium connecting the stomach to the duodenum. No signs of acute or chronic peptic ulcer were noted. A biopsy was taken from the region between the two openings, which showed normal mucosa and a muscularis mucosae layer. Apart from a mild gastritis, no other pathology (chronic peptic ulcer, ulcerated malignancy) suggesting an acquired origin of the double pylorus was observed. Therefore, the case was considered to be congenital in origin. The patient was successfully treated conservatively with antacids and gastrokinetics.

Digestive System Abnormalities↗
PubMed2006

Laparoscopic cecostomy button placement for the management of fecal incontinence in children with Hirschsprung's disease and anorectal anomalies.

BACKGROUND: Antegrade colonic enemas offer a surgical solution for many children with chronic constipation and encopresis associated with Hirschsprung's disease and anorectal malformations. This study demonstrated the feasibility of a new laparoscopic technique for cecostomy button placement (LCBP) to allow antegrade enema treatment. METHODS: Charts of children with encopresis who underwent LCBP between 1999 and 2001 were reviewed. The age, weight, primary diagnosis, operative time, hospital stay, associated complications, follow-up duration, and outcome of the patients were recorded. The surgical technique used a "U-stitch" method and a chait tube or a standard gastrostomy button. A follow-up telephone survey was conducted to assess parental satisfaction and overall success in continence. RESULTS: Seven patients ages 4 to 12 years (mean, 7.3 +/- 1.3 years) and weighing 15 to 44 kg (mean, 24.5 +/- 4 kg) underwent LCBP over a 2-year period. The mean follow-up period was 15 +/- 4 months (range, 6-33 months). Four patients had anorectal malformations, and three patients had Hirschsprung's disease. For all the patients, LCBP was accomplished without any intraoperative complications. The mean operative time was 33 +/- 2 min, and the hospital stay was 2 to 5 days (mean, 3.8 +/- 0.5 days). The patients received one or two daily antegrade enemas, and none had accidental bowel movements. Episodes of soiling at night once or twice a week were observed with two children. Two patients had hypertrophic granulation tissue formation, which responded to topical therapy. The button was uneventfully changed twice in one patient because of mechanical malfunction. CONCLUSION: To manage overflow incontinence of children with anorectal malformations and Hirschsprung's disease, LCBP is a technically straightforward, effective, and reversible method for the placement of a cecostomy button.

Anal Canal↗
PubMed2000

The role of laparoscopy in the diagnosis and treatment of intestinal duplication in childhood. A report of two cases.

In children, the diagnostic approach for cystic abdominal tumors (e.g., intestinal duplication) usually includes CT scan, ultrasound (US), and MRI. In small children and babies, the diagnosis is often made by laparotomy. We present our preliminary experience with laparoscopic-assisted surgery (LAS) in two girls. Both children underwent US as the diagnostic approach using imaging techniques. If an intraabdominal mass was identified as cystic or solid, the second step was diagnostic laparoscopy with LAS. One of the girls, a 9-year-old, had a history of appendectomy and abdominal cramps. US revealed a cystic structure in the right lower quadrant. Laparoscopy showed an intestinal duplication, which was mobilized; a segmental small bowel resection was then performed. The second girl, a (6-month-old,) had an antenatal diagnosed cystic mass. A small bowel duplication was found laparoscopically, completely mobilized and excised, and harvested through a small umbilical incision. The postop course was uneventful. In former times, transverse laparotomy and Pfannenstil incision were the most common surgical approaches. LAS combines an excellent means of exploration with the simultaneous performance of definitive surgery. Perfect cosmetic results can be achieved even in children with rare pathology.

Child↗
PubMed2005

Clinicopathology of pancreaticobiliary maljunction: relationship between alterations in background biliary epithelium and neoplastic development.

BACKGROUND/PURPOSE: Between 1988 and 2003, 38 patients underwent biliary resection for pancreaticobiliary maljunction (PBM). We reviewed the histopathologic findings for the surgically resected specimens to compare the clinical and pathologic features and assess the relationship between changes in the background biliary epithelium and the development of neoplasms. METHODS: Papillary hyperplasia (PHP) seen in the biliary epithelium of patients with PBM, was classified into grades 0--III in the gallbladder and grades 0--II in the extrahepatic bile duct, according to the extent, and was assessed for links with tumors in the same specimens. RESULTS: The incidence of gallbladder carcinoma was 13/21 in grades I--II, versus 0/16 in grade III, while the incidence of bile duct carcinoma was 4/20 in grade I versus 0/5 in grade II. Furthermore, these incidences for patients below age 50 years and age 50 or older were 1/18 versus 12/20, and 0/14 versus 6/17, respectively. CONCLUSIONS: PHP of the biliary epithelium in PBM patients is an important precursor lesion, especially for gallbladder cancer, and the risk becomes greater with age, regardless of the type of pancreatobiliary junction (PBJ) and its location in the biliary tract.

Adolescent↗
PubMed2006

Porcelain gallbladder complicated with pancreas divisum.

We report a rare case of porcelain gallbladder associated with pancreas divisum (PD). A 60-year-old woman suffered from discomfort in the back of the right side. An abdominal radiograph revealed a calcified spherical mass in the right upper quadrant. Ultrasonography revealed a scattered echo with a posterior acoustic shadow in the gallbladder wall. A plain computed tomography (CT) scan showed flecks of intramural calcification in the wall of the gallbladder. Endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance cholangiopancreatography (MRCP) showed separate openings for the Santorini and Wirsung ducts. The patient underwent cholecystectomy after porcelain gallbladder and pancreas divisum had been diagnosed. The porcelain gallbladder resulted from a stone impacted in the neck of the gallbladder. Patients with PD should be followed carefully, because gallstones often accompany PD, and porcelain gallbladder may result, as in this patient.

Calcinosis↗
PubMed1999

Sigmoid adhesion caused by a congenital mesocolic band.

Congenital mesocolic band is an uncommon aberration in the development of the mesentery. Large-bowel obstruction secondary to adhesion and/or congenital band is very rare in children. A 6-month-old male infant who had no history of previous surgery was admitted with unremitting crying. A barium enema showed extraintestinal compression of the sigmoid colon. Laparotomy revealed an adhesive mesocolic band compressing the proximal part of the sigmoid colon. The band was lysed. The patient has remained asymptomatic since the procedure.

Diagnosis, Differential↗
PubMed2000

Jejuno-ileal atresia in identical twins: report of a case.

Small intestinal atresia occurring in twins is extremely rare. The aims of this study are to report a case of identical twins with different types of jejunal atresia, to review six other pairs of twins, and discuss the etiology. Our case was the seventh in which both twins were diagnosed to have jejuno-ileal atresia. Furthermore, they are also only the sixth and seventh patients known to survive. All the other published cases involved identical twins except one. Three pairs had different types of atresia and four pairs did not have any other anomalies. In addition, to date there have been no further indications of any other members of these families being affected with intestinal atresia. Therefore, we conclude that most such cases might be due to environmental influences during gestation.

Anastomosis, Surgical↗
PubMed2005

Management of polycystic liver disease.

The adult forms of polycystic liver disease are characterized by autosomal dominant inheritance and numerous hepatic cysts, with or without renal involvement. Mutations in two distinct genes predispose to renal and liver cysts (PKD1 and PKD2), and mutations in two different genes yield isolated liver cysts (PRKCSH and SEC63). Mutations at certain loci of PKD1 may predispose to more severe renal cystic disease or cerebral aneurysms. Risk factors for severe hepatic cystic disease include aging, female sex, pregnancy, use of exogenous female steroid hormones, degree of renal cystic disease, or severity of renal dysfunction (in patients with mutations in PKD1 or PKD2). Although liver failure or complications of advanced liver disease is rare, some patients develop massive hepatic cystic disease and become clinically symptomatic. There is no effective medical therapy. Treatment options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation.

Combined Modality Therapy↗