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PubMed2004

Gastrointestinal manometric findings in a patient with total intestinal aganglionosis.

BACKGROUND/PURPOSE: The authors studied gastrointestinal motility in a patient with total intestinal aganglionosis (TIA) and the effect of octreotide (OCT) on ileal motility in this patient. METHODS: The 3200-g girl received ileostomy at 50 cm proximal to the ileocecal site and jejunostomy at 15 cm distal to the ligament of Treitz because of severe ileus owing to TIA. Histology of the intestines, including jejunostomy, showed no ganglion cells. Gastro-duodeno-jejunal and distal ileal manometries were done 8 months after birth. RESULTS: In upper gastrointestinal manometry, sporadic contractions and clusters consisting of 3 to 5 contractions were observed in the duodenum and jejunum, but no typical phase 3 was observed during the 3-hour recording period. In ileal manometry, long-lasting repetitive contractions were recorded at 2 distal sites. In the most proximal ileum, the frequency of contractions was less than in the 2 distal sites. OCT administration induced a decrease in the amplitude of contractions during the first 20 minutes. The amplitude increased thereafter and reached a level higher than that before OCT administration. CONCLUSIONS: In this patient, the predominant manometry finding was the remarkable hypermotility of the ileum. OCT induced a transient decrease in ileal motility and an increase in motility thereafter.

Digestive System Abnormalities↗
PubMed2005

Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years.

BACKGROUND/PURPOSE: The introduction of laparoscope and transanal endorectal pull-through has caused a revolution in the operative procedures for Hirschsprung's disease. To study the changing profile of Hirschsprung's disease in Japan, the authors carried out a national survey. METHOD: Patient data were collected in 3 phases: group 1, 1628 patients between 1978 and 1982; group 2, 1121 patients between 1988 and 1992; and group 3, 1103 patients between 1998 and 2002, respectively. RESULTS: The incidence was 1:4697, 1:5544, and 1:5343 and the male/female ratio was 3.0:1, 3.4:1, and 3.0:1 in each group, respectively. Patients weighing less than 2500 g at birth increased to 10.4% in group 3, whereas they were 6.5% in group 2 and 5.5% in group 1. The patients with a family history also increased to 6.0% in group 3, in comparison with 2.8% in group 2 and 3.0% in group 1. The incidence of associated anomalies increased over time, 11.1% in group 1, 16.3% in group 2, and 21.2% in group 3. Mutations of genes were found in 4 of the 23 patients examined. The extent of aganglionosis was almost the same in each group. Regarding the definitive operation, the procedures without laparotomy, including transanal endorectal pull-through, increased up to 42.6% in group 3 but 0% in groups 1 and 2. The frequency that a primary operation without stoma was performed also increased. The age at definitive operation decreased in group 3. The incidence of preoperative and postoperative enterocolitis also decreased over time. The mortality was decreased over time, 7.1%, 4.9%, and 3.0% for groups 1, 2, and 3, respectively. CONCLUSIONS: The authors analyzed 3852 Japanese patients over 3 decades. The ratio of patients with a low birth weight, associated anomalies, or a family history was increased in the last 10 years. A primary operation without laparotomy has thus become the procedure of choice for a definitive operation.

Anal Canal↗
PubMed2005

Atresia of the colon.

BACKGROUND/PURPOSE: Colonic atresia (CA) is one of the rarest causes of neonatal intestinal obstructions, and no large series can be reported. Therefore, we did perform a retrospective clinical trial to delineate our CA cases and carry out a literature survey. METHODS: We reviewed the charts of CA cases treated in our center between 1992 and 2002. We aimed to collect all reported cases in Medline, and personal communications with the authors of published series were used to reach the missing data. RESULTS: The chart review revealed 9 newborns with CA treated in our center (6 cases of type III, 2 cases of type II, and 1 case of type IV). These accounted for 3.7% of all gastrointestinal atresias managed in our center. Of the CA cases, 3 were isolated and 6 had at least one or more associated congenital anomalies. The preferred surgical technique at the initial treatment of CA was performing a proximal stoma and distal mucous fistula in an average of postnatal 59.4 hours. The literature survey enabled us to reach 224 cases of CA, including our cases. CONCLUSIONS: Because of the low incidence of CA, delay in diagnosis and treatment may occur. The mortality is statistically higher when the surgical management is performed after 72 hours of age. However, the prognosis of CA is satisfactory if diagnosis and surgical management could be made promptly and properly.

Anastomosis, Surgical↗
PubMed2005

Splenogonadal fusion: case presentation and literature review.

Splenogonadal fusion is a rare congenital anomaly in which there is fusion of the spleen and the gonad or mesonephric derivatives. To date, approximately 150 cases have been reported since the condition was first described by Bostroem in 1883 (Bostroem E. Demonstration eines Praparates von Verwachsung der Milz mit dem lenken Hoden. Gesellschaft deutscher Naturforscher und Aerzte, Verhandlungen der 56 Versammlung, Freiburg; 1883. p. 149). Very few cases have been diagnosed preoperatively, and many cases presenting as a testicular swelling underwent an unnecessary orchiectomy with the suspicion of a testicular neoplasm. A case is presented and the related literature is reviewed.

Cryptorchidism↗
PubMed2006

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↗
PubMed2006

Segmental dilatation of the intestine.

PURPOSE: The aim of this work is to discuss the pathogenesis of the segmental dilatation of the intestine (SDI) and to review its clinical presentation and the ways to confirm the diagnosis. METHODS: Eight cases of pathologically proven SDI from 1987 to 2003 were reviewed and discussed. There were 7 newborns and a 1-year-old boy. RESULTS: Our patients are 5 boys and 3 girls. In all cases, the diagnosis was not suspected before surgery. Two patients presented with a low neonatal bowel obstruction. Six patients were operated for omphalocele, which was the most frequent associated malformation. The SDI involved the ileum in all patients. The treatment consisted on a resection of the dilated segment with an end-to-end anastomosis. Histological examination demonstrated the presence of ganglion cells in all cases. The muscular layer was hypertrophied in two cases and very thin in one case. A heterotopic gastric mucosa was observed in one case. No anomalies were observed in 5 cases. The postoperative course was uneventful in 6 cases with a mean follow-up of 5 years. CONCLUSIONS: Segmental intestinal dilatation is an exceptional pathology with an unknown etiology and a misleading clinical presentation. Several theories were proposed to explain this malformation; however, most authors are rather inclined to an embryological theory incriminating an extrinsic intrauterine intestinal compression. Most cases are neonatal discoveries. The clinical polymorphism and the lack of specificity of radiological investigations explain the difficulties to have a preoperative diagnosis. However, this difficulty is compensated by the favorable evolution after the resection of the dilated segment.

Digestive System Abnormalities↗
PubMed2006

Colonic triplication associated with anorectal malformation: case presentation of a rare embryological disorder.

Tubular colonic triplication is an extremely rare hindgut malformation, with only 2 reports in the literature to date. The present authors describe the new and unusual case of a boy born with an imperforate anus, rectovesical fistula, and 3 distinct left colons. The bladder was divided by an incomplete septum. Prenatal ultrasound suggested colonic duplication. Surgical management involved resection of the triplicated segment and posterosagittal anorectal pull through.

Adult↗
PubMed2006

The perinatal transition of the hepatobiliary cyst size provides information about the condition of bile flow in biliary cystic malformation cases.

PURPOSE: The aim of this study was to understand the level of bile flow by perinatal transitions of the hepatobiliary cyst size in biliary cystic malformation (BCM) cases and to examine the association between the transitions of the cyst size, cholangiographic images of the intrahepatic bile ducts (IHBDs), and histological features of the liver specimens in BCM. METHODS: We measured perinatal size of the hepatobiliary cyst in 7 BCM cases, composed of 1 case with choledochal cyst and 6 cases with biliary atresia (BA). Bile excretion was inferred from the transition of cyst size and the postoperative course. The IHBD cholangiographic images were also examined. In addition, histology of liver specimens obtained at the time of initial surgery was evaluated for IHBD maturity and fibrosis. RESULTS: The size of the small cyst in 2 BA cases remained almost unchanged throughout gestation. These cases required longer postoperative period for the clearance of jaundice. Their IHBD images were indistinct, and histology showed severe fibrosis. The ratio of bile ducts to portal tracts was 0.5 in 1 of the cases. However, in other BCM cases where the cysts grew large perinatally, bile excretion was good postoperatively, and their jaundice cleared in shorter period. Their cholangiographic images demonstrated clearer periphery of the IHBDs, and their histology showed mild or moderate fibrosis, if any. CONCLUSIONS: The perinatal transition of the cyst size in BCM cases can be helpful in assessing the level of bile flow. BCM with a small cyst during gestation can include some BAs with poorer bile flow, vaguer IHBD images, and prominent liver fibrosis. For the treatment of BCM cases, especially patients with a small biliary cyst, prompt response may be required after birth.

Bile↗
PubMed2006

Dorsal mesenteric agenesis without small bowel atresia: a rare cause of midgut volvulus in children.

Agenesis of the dorsal mesentery in association with jejunal atresia is a well-recognized congenital anomaly. Only few reports exist in the English literature of children with agenesis of the dorsal mesentery without small bowel atresia. Herein, we report a child with total mesenteric agenesis presenting with midgut volvulus owing to internal herniation of the small bowel through a mesenteric defect, with normal fixation and rotation of the bowel.

Child, Preschool↗
PubMed2006

Highly resolved free-breathing magnetic resonance cholangiopancreatography in the diagnostic workup of pancreaticobiliary diseases in infants and young children--initial experiences.

PURPOSE: A new generation of magnetic resonance imaging scanner offers a 3-dimensional magnetic resonance cholangiopancreatography (MRCP) with very high spatial resolution using a non-breath-hold technique with prospective navigator gating. The study aimed to investigate the new technology of the MRCP in infants with suspected pancreaticobiliary diseases. METHODS: Seven patients (4 girls, 3 boys; mean age, 2.8 years; range, 3 months to 5.6 years) were examined. All patients underwent magnetic resonance imaging examination using a 1.5-T whole-body scanner (Magnetom Avanto, Siemens Medical, Erlangen, Germany). For MRCP, a heavily T2-weighted (time to echo, 678 ms) 3-dimensional turbo spin echo in coronal plane was performed with the voxel size of 1 x 1 x 1.5 mm. To enable non-breath-holding imaging, a diaphragm navigator sequence was simultaneously carried out. The MRCP findings were compared prospectively with the endoscopic retrograde cholangiopancreatography and/or with the surgical findings in 6 of 7 cases. In 1 patient, the follow-up was considered reference standard. RESULTS: The high spatial resolution of the images without breathing artifacts allowed an excellent demonstration of all relevant pancreaticobiliary ducts and of the pathologic findings. All patients (n = 4) with choledocholithiasis were identified through MRCP. The finding of a high pancreaticobiliary junction (n = 3) was confirmed by endoscopic retrograde cholangiopancreatography in all cases. The length of the common channel ranged from 16 to 24 mm. In 1 patient, the long common channel was associated with a choledochal cyst. In a 1.7-year-old boy with recurrent abdominal pain and mild pancreatitis, the rare case of a gastric duplication with connection to the main pancreatic duct was diagnosed. A regular gastric wall with normal mucosa and parts of the duodenal wall with a circular layer of muscle (pylorus-like) were found in histology after surgical resection of the mass. CONCLUSION: The newly developed technique may be a reliable tool in the workup of pancreaticobiliary diseases in infants.

Biliary Tract↗
PubMed2006

Triplication of colon with diphallus and complete duplication of bladder and urethra.

Gastrointestinal duplications are a common type of congenital anomaly usually restricted to one part of the gut. Triplication of colon is a rare variation of duplication of the hindgut. Hindgut duplications are commonly associated with anomalies of other derivatives of the cloaca, namely, the lower genitourinary system. Here, we describe a child with triplication of colon with associated duplication of bladder and urethra and diphallus. The child described here is the only reported survivor with triplication.

Colon↗
PubMed2007

Increased heritability of certain types of anorectal malformations.

PURPOSE: Various lines of evidence point to genetic causes for the diverse spectrum of anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case series. METHODS: We searched our ARM database for all patients having family members with congenital anomalies. This group was analyzed to determine the type of ARM and the specific anomalies in affected family members. RESULTS: Thirty-nine of 1606 patients (2.4%) had a family member with a congenital anomaly. The associated non-ARM anomalies included sacral masses and gynecologic, hematologic, esophageal, duodenal, renal, and spinal anomalies. Of these, 24 patients (1.4%) had 1 or more family members with an ARM. Among females with a positive family history, 73% of patients had either a vestibular or perineal fistula, compared with only 36% in patients without a family history (P = .0004). Among males, 35% had perineal fistulas compared with only 10% of those without affected family members (P = .0051). CONCLUSIONS: A positive family history in 1.4% is supportive of a strong genetic component to ARM. The risk of having an affected family member is significantly increased in the presence of a vestibular or perineal fistula. These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies.

Anal Canal↗
PubMed2007

Outcome of excision of megarectum in children with anorectal malformation.

BACKGROUND/PURPOSE: Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. METHODS: We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. RESULTS: Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. CONCLUSION: Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal continence.

Adolescent↗
PubMed2004

The decline of postnatal mortality from gastrointestinal anomalies with age.

It has been previously shown that mortality from congenital anomalies decreases with the first power of age with the exception of "gastrointestinal anomalies". On the other hand, mortality declines with the second power of age in the category "certain conditions originating in the perinatal period". According to the theory of congenital individual risks, the dying out of more impaired individuals causes these two types of mortality decline. Mortality decline with the first power of age is the most frequent type of mortality decline after birth. This evidence is explained as a consequence of the rule: the higher the individual risk of death, the less frequent the individual risk is at the moment of birth. If all defects (and all individual risks) appear with the same frequency and selection does not occur (e.g. this could be assumed for certain conditions originating in the perinatal period) then mortality declines with the square of age. Here, it is shown that mortality from "gastrointestinal anomalies" (ICD9 codes: 750 and 751) decreases with the second power of age in all five countries within the age interval 1-10 years. This is a consequence of evidence that these defects do not affect vitals important during pregnancy and selection is not significant. These findings demonstrate that the selection of higher individual risks proceeds during pregnancy rather than during previous generations.

Adult↗
PubMed2003

Gastrointestinal duplications.

BACKGROUND/PURPOSE: The aim of this study was to review the presentations of gastrointestinal duplication (GID) and to assess the influence of prenatal diagnosis on treatment. METHODS: Retrospective review of all GID at 2 pediatric hospitals from 1980-2002 was conducted. RESULTS: Seventy-three patients (M43:F30) were identified: 21 neonates, 28 infants (1 to 24 months), 15 children (1 to 10 years), 9 adolescents (>/=11 years). GID location by frequency was ileum (31.5%), ileocaecal valve (30.2%), duodenum (9.6%), stomach (8.2%), jejunum (8.2%), colon (6.8%), and rectum (5.5%). In neonates and infants, vomiting and distension were the most common presentations. Volvulus, caused by a duplication, occurred in 23.8% of neonates and caused the death of one neonate. Intussusception was identified in 10.9% of patients. In older children and adolescents, pain and vomiting were the most common associations. Six of these patients were being treated for Crohn's disease, with the diagnosis of duplication made at laparotomy. Eighteen patients had a prenatal diagnosis by ultrasound scan, with 77.2% of these asymptomatic after birth. Most prenatal diagnoses occurred after 1991 (77.8%). When comparing an earlier period (1980 to 1991; 29 patients) with the current (1992 to 2002; 44 patients), a greater proportion of the latter patients were asymptomatic (36.4 v 13.8%) and had a lower incidence of complications (volvulus/intussusception). CONCLUSIONS: GID can lead to life-threatening complications. Prenatal diagnosis should lead to expeditious postnatal investigation and treatment before the onset of symptoms or complications. GID in older children can mimic Crohn's disease. Laparoscopy/laparotomy should be considered in patients with atypical Crohn's disease or when the diagnosis of an intraabdominal mass is unclear.

Adolescent↗