Changing profile of abdominal wall defects in Japan: results of a national survey.

BACKGROUND/PURPOSE: The incidence of gastroschisis has increased over the past 3 decades in a number of countries. To elucidate the Japanese status of anterior abdominal wall defects, the Japanese Society of Pediatric Surgeons conducted a national survey in Japan. METHODS: Information was obtained by sending out a questionnaire to 192 University Hospitals, Children's hospitals, and general hospitals that each had more than 200 beds. The characteristics of the patients including the birth date, birth weight, gestations, rate of associated anomalies, rate of antenatal diagnosis and prognosis, maternal age, gravidity, history of smoking, and drug use were analyzed. RESULTS: The authors obtained answers from 149 institutions, including 1,785 cases of omphalocele and 970 cases of gastroschisis, which were treated between 1975 to 1997. There was a significant increase in the incidence of gastroschisis, from 0.131 in 1975 to 1980, 0.269 in 1981 to 1985, 0.337 in 1986 to 1990, 0.461 in 1991 to 1995 to 0.467 per 10,000 births in 1996 to 1997. The incidence of omphalocele was 0.322 in 1975 to 1980, 0.567 in 1981 to 1985, 0.657 in 1986 to 1990, 0.741 in 1991 to 1995 to 0.626 per 10,000 births in 1996 to 1997, respectively. In the omphalocele group, 43.1% of the mothers were between 25 to 29 years of age, whereas in the gastroschisis group 42.6% of the mothers were 20 to 24 years of age. In the gastroschisis group, the number of primipara mothers was larger than that of multipara mothers. In the omphalocele group, approximately 10% of the mothers smoked during each period, whereas in the gastroschisis group, the percentage of smoking mothers increased chronologically from 12.9% in 1981 to 1985, 18.7% in 1986 to 1990, 23.5% in 1991 to 1995 and 29.3% in 1996 to 1997. A history of drug use by the mother was approximately 10% for both the omphalocele and gastroschisis groups. In the omphalocele group, 55.9% had associated anomalies against 21.8% in the gastroschisis group. Approximately 10% in the omphalocele group and less than 3% in the gastroschisis group showed chromosomal abnormalities. From 1986, a significant number of cases detected antenatally has been observed. CONCLUSIONS: There have been substantial changes in the incidence of anterior abdominal wall defects, particularly regarding gastroschisis in Japan. The reasons for such changes are most likely multifactorial, further epidemiological monitoring is thus called for.

Antenatal diagnosis of biliary atresia (noncorrectable cyst type): a case report.

At 32 weeks of gestation a cystic mass was identified in the hepatic hilum of a fetus by maternal sonography. Laparotomy was performed at 39 days of life after a diagnosis of correctable type of biliary atresia (Type I). A cystically dilated extrahepatic duct, in which the proximal and distal sides of the common bile duct were occluded (Type III with cyst, noncorrectable type), was identified by operative cholangiography. A standard Kasai operation was performed, and 1 year after operation the patient was doing well and was jaundice-free. From this experience in routine maternal sonography, a cystic mass in the hepatic hilum may also suggest Type III biliary atresia with a cyst.

Endosonographic study of anal sphincters in patients after surgery for Hirschsprung's disease.

PURPOSE: This study was performed to evaluate the relationship between endosonographic findings of anal sphincters and anorectal function in patients after surgery for Hirschsprung's disease. In addition, whether internal sphincterotomy or sphincterectomy was accomplished was examined in each procedure by anal endosonography. METHODS: Fifteen patients, aged 11 to 20 years, were examined. Nine patients underwent modified Duhamel's operation, three underwent Rehbein's operation with anorectal myectomy, and three underwent modified Martin's operation. All 15 patients were examined by anal endosonography using a sonographic scanner (Aloka SSD 2000) with a 7.5-MHz radial rotating endoprobe, clinical bowel assessment, and manometric study. RESULTS: After the modified Duhamel operation, anal endosonography showed an interruption of the external anal sphincter (EAS) in eight of the nine patients, as a high, mixed, or low echoic lesion in the hyperechoic band correlated to the EAS. The locations of the interruption were wide in patients with mild constipation. An interruption of the internal anal sphincter (IAS) was observed in all nine patients, as a hyperechoic lesion in the hypoechoic band correlated to IAS, which indicated internal sphincterotomy. After Rehbein's operation with anorectal myectomy, an interruption of EAS was observed in all three patients as a high or low echoic lesion in the hyperechoic band. An interruption of IAS was observed in all three patients. After the modified Martin's operation, an interruption of EAS was observed in two of the three patients as a high or low echoic lesion in the hyperechoic band. An interruption of IAS was observed in all three patients. CONCLUSION: Anal endosonography showed detailed distributions of EAS and IAS in patients after surgery for Hirschsprung's disease and complete internal sphincterotomy or sphincterectomy after these operations.

Solitary fibrous tumor of the oral cavity: report of a case.

A case of benign solitary fibrous tumor of the oral cavity is reported. The tumor occurred in the buccal mucosa of a 34-year-old woman. The surgically removed tumor was 1.5 x 1.2 x 1.0 cm in size and well circumscribed. Histologically, the tumor was composed of spindle-shaped cells that were predominantly arranged haphazardly. Hemangiopericytoma-like areas and collagenous areas were also noted. Immunohistochemically, the tumor cells were positive for CD34 and vimentin. To our knowledge, this is only the second report of solitary fibrous tumor involving the oral cavity.

Absence of rectoanal inhibitory reflex in a child with multiple endocrine neoplasia type 2B.

BACKGROUND: Patients with multiple endocrine neoplasia (MEN) type 2B inherently present with gastrointestinal motility disorders as well as medullary thyroid carcinoma, adrenal pheochromocytoma, and Marfanoid habitus. METHODS: The authors examined gut motility function in a 7-year-old girl with MEN type 2B who had suffered from chronic constipation and recurrent acalculous cholecystitis since infancy. RESULTS: Results of total gastrointestinal barium meal and enema studies showed marked hypoperistalsis of the gut and entire colonic dilatation. Histopathologic study results of the gut wall from the stomach, duodenum, and rectum showed hyperplasia of the submucosal and intramuscular neural plexuses in all specimens. Anorectal manometry demonstrated disarrangement of the internal sphincter rhythmic wave and a complete absence of the rectoanal inhibitory reflex. CONCLUSION: These data suggest that gut motility disorders in MEN type 2B are caused by inadequately organized autonomic nervous system activity that originates from hyperplasia of the enteric nervous system.

Relationship between intraoperative cholangiographic patterns and outcomes in biliary atresia.

Intraoperative cholangiography revealed biliary tracts in 11 of 25 (44%) patients with biliary atresia. The outcome of these 11 patients was analyzed based on the cholangiographic patterns. In these 11 patients, 4 cases were the 1-cyst type, 3 showed a "cloudy shadow" pattern in the intrahepatic biliary tract, and 4 were subtype "a" pattern (distally patent common bile duct). Four patients showing the I-cyst type underwent hepaticojejunostomy with Rouxen-Y anastomosis, and all of the 4 became jaundice-free a few weeks after surgery. Three patients with the "cloudy shadow" pattern gained good bile drainage after hepatic portoenterostomy with Suruga II modification, all were complicated by ascending cholangitis. Three of the 4 subtype "a" pattern underwent hepatic portoenterostomy with Suruga II modification. Two became jaundice-free, while jaundice persisted in one. The subtype "a" patient who underwent hepatic porto-cholecystostomy showed poor bile drainage, and died of hepatic failure 17 months after surgery despite further surgery. From these results, we conclude that 1) hepatico-jejunostomy with Roux-en-Y anastomosis is indicated for I-cyst biliary atresia. 2) Prevention of ascending cholangitis is important in patients with the "cloudy shadow" pattern. 3) Hepatic porto-jejunostomy is indicated for the subtype "a" pattern rather than hepatic porto-cholecystostomy.

Development of anorectal malformations using etretinate.

PURPOSE: To investigate the pathogenesis of anorectal malformations (ARM), the authors studied cell proliferation and programmed cell death (apoptosis) patterns in murine embryos that develop ARM as a result of administering an overdose of etretinate, a long-acting vitamin A analogue (retinoid). METHODS: Pregnant mice were fed 60 mg/kg of etretinate on the ninth gestational day (E9). Embryos were obtained between E9.5 and E13, and prepared for histological study. Cell proliferation was examined using proliferative cell-specific nuclear antigen (PCNA) expression. Apoptosis was identified by detecting in situ DNA fragmentation using the TdT-mediated dUTP-digoxigenin nick end-labeling (TUNEL) method. RESULTS: Over 95% of etretinate-treated embryos had ARM including rectoprostatic urethral or rectocloacal fistula. In the histological study, ARM embryos showed defective cell proliferation in the cloacal membrane and excessive apoptosis in the dorsocaudal region on E11, which resulted in a lack of apoptosis in the anal orifice and a short tail on E12, respectively. Cells forming the urorectal septum showed the same pattern of cell proliferation and apoptosis both in ARM embryos and the controls. These results suggest that impairments of embryonal cellular dynamics in the cloacal membrane and dorsocaudal region induce some types of ARM.

Utility of helical CT for diagnosis and operative planning in tracheomalacia after repair of esophageal atresia.

We utilized helical computed tomography (CT) in three infants (aged 1 to 5 months) with tracheomalacia after repair of esophageal atresia. Helical CT was used for preoperative diagnosis and operative planning. At the time of aortosternopexy, it is often difficult to determine the direction of suture traction to yield the largest tracheal lumen. The helical CT was useful not only for diagnosis of tracheomalacia but also for operative planning of aortosternopexy.

Is a new biofeedback therapy effective for fecal incontinence in patients who have anorectal malformations?

PURPOSE: The authors devised computerized equipment for use in the biofeedback therapy in the management of fecal continence after surgery for anorectal malformations. METHODS: The therapy was used for two to eight sessions in 14 children (11 who had high-type anomalies and three who had intermediate-type anomalies). The ages ranged 5 to 14 years. A control group of 17 children, aged 5 to 11 years, who had encopresis, was also treated with the same biofeedback therapy. RESULTS: Clinical improvement was noted in 5 of the 14 (36%) children who had fecal incontinence, and in 15 of the 17 children (88%) who had encopresis. Both in patients who had fecal incontinence and in those who had encopresis, anal resting pressures were not affected by biofeedback therapy. Furthermore, the anal resting pressure in children who had fecal incontinence was significantly lower than that in children who had encopresis. However, anorectal manometry showed that the biofeedback therapy improved voluntary sphincter function and rectal sensation in both groups. CONCLUSION: Biofeedback therapy appears to be effective in most children who have encopresis whose sphincter function is intact, and in some children who have fecal incontinence after surgery for anorectal malformations.

A comparison of anal endosonography with electromyography and manometry in high and intermediate anorectal anomalies.

Anal endosonography, electromyography (EMG) of the external anal sphincter (EAS), and manometry of the internal anal sphincter (IAS) were performed in 15 patients with anorectal anomalies (10 with high and five with intermediate anomalies), ranging in age from 8 to 18 years. The anal endosonographic findings were compared with those for the EMG of the EAS and manometry of the IAS. An image including the hyperechoic band that corresponds to the EAS was obtained in all 15 patients. However, the distribution of EAS image was inadequate in high anomalies. In four patients who showed in Kelly score of 5 or 6, good visualization of the EAS was obtained in both anal endosonography and EMG. An Image including the hypoechoic band that corresponds to the IAS was obtained in five patients with high anomalies and in one with intermediate anomalies. Therefore, even in patients with anomalies, at these levels the IAS could be ultrasonically detected. However, only one of these six patients exhibited an anorectal reflex. These results indicate that, for the EAS, the findings of anal endosonography correspond well with those of EMG, but that for the IAS, they do not correspond with those of manometry. At the time of surgery for anorectal anomalies care should taken to preserve the IAS, which can be detected by anal endosonography even in patients with high or intermediate anomalies.

Results of a modified Duhamel Operation for Hirschsprung's disease using the GIA stapler.

Thirty-six patients with Hirschsprung's disease underwent surgery using modified Duhamel operation with the GIA (gastrointestinal autosuture) stapler over a 12-year period at our institution. We now present our experience from the perspective of postoperative complications and anorectal function. Postoperative complications included minimal anal bleeding due to the GIA stapler in 2 patients, and mild enterocolitis in 6 patients. Severe complications such as anastomotic leakage or stricture were not observed in our series. Overall, postoperative anorectal function was good in patients without Down's syndrome or cerebral palsy. Follow-up of our patients showed that a good quality of life was achieved during childhood. We conclude, therefore, that the modified Duhamel operation, with the use of the GIA stapler, is a safe and easy procedure for correction of Hirschsprung's disease.

Periodic bile cultures and irrigation of the external jejunostomy for cholangitis in biliary atresia.

We retrospectively investigated the use of periodic bile cultures and irrigation of the external jejunostomy for prevention or treatment of postoperative cholangitis in 11 infants who had undergone the Suruga II modification with external jejunostomy for biliary atresia. Periodic cultures obtained from bile in the external jejunostomy were done weekly in all patients. Staphylococci were first cultured 1 week after operation, followed by intestinal flora such as enterococci, Pseudomonas, Klebsiella, or Enterobacter. Most of the cultures revealed two or more microorganisms. Susceptibility testing indicated the effective antibiotics for the treatment of each case of cholangitis. Therefore, periodic bile cultures and irrigation of the external jejunostomy provide important information for prevention or treatment of postoperative cholangitis, especially in the early postoperative period.

An association of multiple intestinal atresia and biliary atresia: a case report.

This is the first report of a 2-day-old girl having an association of biliary atresia and multiple intestinal atresia. She developed intractable vomiting in the first hours of life. An upper gastrointestinal series and barium enema showed jejunal atresia and rectal atresia. A laparotomy was performed on the fourth day of life. The operative findings were multiple sites of atresia of the intestine, 10 atretic sites in the small bowel, and 3 in the colon. The gall bladder was normal in size and position. After the operation, the patient's stool remained acholic and her jaundice did not resolve. On the 58th day of life, another laparotomy was performed with the presumptive diagnosis of biliary atresia. The operative finding was biliary atresia, type 3; the Kasai operation with external jejunostomy was performed. The patient suffered from postoperative cholangitis and enterocolitis because of her short bowel and subsequently died at 9 months of age. This is the first case of biliary atresia associated with multiple intestinal atresia reported in the literature.

Innervation patterns in congenital biliary dilatation.

The innervation of choledochal cysts was studied to see if the distribution of innervating ganglion cells can be utilized as a possible indicator of the damage and dilatation process of choledochus. Specimens from 32 patients aged 1 month to 12 years were stained by the immunoperoxidase method with neural tissue-specific antibodies, the innervating ganglion cells were counted and their number was correlated with the clinical severity, patient's age-at-surgery, and intraoperative cholangiographic and/or ERCP findings. In cystic dilatation, the total number of ganglion cells within the choledochal wall was significantly lower than in control specimens regardless of the diameter of the choledochal cyst, age-at-surgery, or clinical course. In fusiform dilatation, the total number of ganglion cells varied according to the severity of the clinical presentation, and the diameter of the fusiform choledochus increased in proportion to the patient's age-at-surgery. The distribution of innervating ganglion cells is thought to correlate quantitatively with the damage and dilatation process responsible for the choledochal cyst. These results may support a hypothesis that the pathogenesis of cystic dilatation proceeds antenatally or soon after birth, while that of fusiform dilatation begins after birth.

Sensation in the anal region and rectum after surgery for anorectal malformations.

Sensation of the anal region and rectum after surgery for anorectal malformations was investigated in 32 patients (17 with high type, 6 with intermediate type and 9 with low type anomaly), aged 5 to 16 years. All patients were examined as to whether or not they could appreciate sensations of touch, pain, heat and cold in the circumanal skin and in the anal canal. Rectal sensation and compliance were also examined by anorectal manometry. All patients had normal sensation in the circumanal skin, but less than half of them had normal sensation in the anal canal. Patients with normal bowel control showed a significantly higher incidence of touch sensation in the anal canal than those with fecal incontinence or constipation. It was suggested that a sensation defect of the anal canal is related to a disturbance of discrimination between flatus and feces. The results of rectal sensation and compliance showed that reduced elasticity of the neorectum and low rectal compliance were important factors of fecal incontinence after surgery for anorectal malformations.

Impaired proliferative activity of mesenchymal cells affects the migratory pathway for neural crest cells in the developing gut of mutant murine embryos.

The developmental expression of neural and cell proliferation-related antigens in guts from mutant murine embryos (Is, lethal spotted) as a model for Hirschsprung's disease was studied. The expression was examined immunohistochemically using antibodies specific for neural cell adhesion molecule (NCAM), the L1 molecule, and proliferative cell-related nuclear antigen (PCNA). Cells immunoreactive for neural components proceeded from the esophagus to the anorectum showing a one-way migratory wave between embryonal day 10 (E10) and E14 in control specimens (Is/+, +/+). The patterns of NCAM and L1 immunoreactivity in Is/Is mutant specimens was the same as in controls on E10. However, from E10.5 to E13.5, the immunoreactivity in the mutants decreased and remained in the more oral side as compared with controls. No migration of immunoreactivity was found after E14.0. Therefore, the terminal portion of the colon remained aganglionic in Is/Is mutant embryos. PCNA immunoreactivity of mesenchymal cells preceded the migratory wave of the neural specific immunoreactivity, but the PCNA-positive cells were meager and poorly organized in the mutant embryos. Deficient PCNA staining patterns were found in mesenchymal tissue rather than in the migrating cells themselves. This impaired PCNA expression may reflect a deficient microenvironment for migration such that neural crest cells cannot colonize properly.

Ultrasonic Doppler measurements of visceral blood flow in the repair of giant omphalocele.

An ultrasonic Doppler device was used for visceral perfusion monitoring in the repair of a giant omphalocele. A full-term newborn, antenatally diagnosed as having middle celosomia involving the entire liver, stomach, spleen and small intestine, underwent a staged repair following the method of Gross after visceral compression induced by periodically squeezing a Dacron membrane silo. The hilum of the omphalocele was semicircular and measured 70 mm in diameter; the membrane was kept intact. The blood flow of the abdominal inferior vena cava (IVC), hepatic vein (HV) and portal vein (PV) was serially examined. During the 11-day process of repair, the data consistently showed an IVC flow of over 60 ml/min, a PV flow of over 100 ml/min, and an IVC pressure of under 15 mmHg in this patient, whose birth weight was 3024 g. These values were closely correlated with the clinical status and the ultrasonographic findings showing angulation and decompression of the IVC and HV by visceral contents. Ultrasonic Doppler blood flow measurement provides a sensitive, noninvasive indicator of visceral organ viability during omphalocele repair.

An immunohistochemical study of neurofilament and microtubule-associated Tau protein in the enteric innervation in Hirschsprung's disease.

The distribution and localization of neurofilament (NF) and microtubule-associated tau protein (Tau) in the colon from Hirschsprung's disease were examined by immunohistochemistry. Specimens of the normoganglionic, oligoganglionic, and aganglionic segments of colons from nine patients with Hirschsprung's disease were used in this study. Normal colon specimens obtained at the time of colostomy closure from two patients with anorectal malformations were also examined as controls. In normoganglionic segments, anti-NF-H and anti-NF-M immunoreactivity appeared within the nerve fibers of both the myenteric and submucosal plexuses. These findings were also observed in the oligoganglionic segments. In the aganglionic segment, hypertrophic nerve fascicules and the nerve fibers in circular muscle were positively stained with anti-NF-H and anti-NF-M antibodies. Anti-Tau staining appeared in the ganglion cell bodies of both myenteric and submucosal plexuses and in nerve fibers distributed among the circular muscles of the normal control colons, and the normoganglionic and oligoganglionic Hirschsprung's specimens. Nerve fibers in the circular muscle layer of aganglionic segments were also stained with anti-Tau serum, although the hypertrophic nerve fascicules in the intermuscular and submucosal layers did not stain. The so-called nerve fascicules distributed in the subserosal layer also did not stain with anti-Tau. These results suggest that Tau may be used as a specific marker to identify ganglion cells and intrinsic nerve fibers in colons affected by Hirschsprung's disease.

Biliary tract complications in patients with hypoganglionosis and chronic idiopathic intestinal pseudoobstruction syndrome.

The biliary tract system was studied in two patients with hypoganglionosis and chronic idiopathic intestinal pseudoobstruction syndrome (CIIPS) to evaluate manifestations of these diseases, especially as for underlying motility disorder. In a 3-year-old boy with hypoganglionosis, cholelithiasis was diagnosed and the gallbladder specimen showed a markedly hypoplastic neural plexus on histopathology as was found in his total alimentary tract. In a 2-year-old girl with CIIPS, echo-guided gallbladder wall motility testing demonstrated an impaired response to a ceruletide diethylamine stimulation. These clinical experiences in two patients suggest that these pathological entities may be frequently associated with biliary tract complications not only due to a consequence of total parenteral nutrition, but also due to a possible intrinsic involvement of biliary tract dysmotility.

Motility and sensation of the rectosigmoid and the rectum in patients with anorectal malformations.

Motility of the rectosigmoid and rectum and reservoir function of the rectum after surgery for anorectal malformations were investigated in 32 patients (17 with high type, 6 with intermediate type, and 9 with low type anomaly) aged 5 to 16 years. All 32 patients were examined manometrically as well as with a newly devised myoelectrical method. Manometry showed that the values of maximum anal pressure and anorectal pressure difference in the high type were significantly lower than those in the low type. However, the incidence of contractile activity of the rectosigmoid was not significantly different between these two groups. The threshold sensation pressure and the maximum tolerable pressure in the high type were significantly higher than those in the low type, and the rectal compliance in the high type was significantly lower than that in the low type. Electromyography was recorded at 8 cm and 5 cm from the anal verge. Two types of slow waves were observed, a faster rhythm and a slower rhythm. Their frequency was similar in the three groups. However, the numbers of spike bursts in the high type and intermediate type were significantly higher than those in the low type. These results indicate that in addition to an inadequate anal resting pressure a loss of optimal rectal sensation or rectal reservoir function might be associated with fecal incontinence in the high type and that increased spike bursts might play some role in rectal motility.