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PubMed1984

[Abnormalities of the upper gastrointestinal tract diagnosed prenatally by ultrasound].

A hydramnion occurring during the second half of pregnancy may be due to atresias in the upper intestinal tract. Generally, one case of oesophageal atresia is likely to occur in every 2,500 births, often together with other malformations. Prenatal diagnosis of such atresias substantially improves prognosis for these children via optimal cooperation between the obstetrician and the paediatric surgeon. Characteristic features of oesophageal atresia in the sonographic image are, besides the hydramnion, the absence of visualisation of the stomach. Sonographic diagnosis of duodenal atresias is based on visualisation of the stomach, which is excessively filled with fluid, and of the portion of the small intestine located cranially of the stenosis. The patients treated by the author and presented here were successfully operated on via termination of birth and immediate surgery by the paediatric surgeon.

Adult↗
PubMed1991

The gastrointestinal tract in Down syndrome.

Down Syndrome is recognized as one of the most common predisposing conditions for a group of serious gastrointestinal (GI) anomalies. Tracheo-esophageal fistula, duodenal obstruction with or without pyloric stenosis, annular pancreas, imperforate anus and Hirschsprung's disease are the most prevalent lesions. Understanding of the morphogenetic mechanisms responsible for this range of abnormalities is far from clear, as none of the lesions is specific to the trisomic state and the underlying defects (i.e., failure of foregut canalization, failure of neural crest cell migration into the myenteric and submucosal plexuses or malformation of the anterior abdominal wall, etc) are encountered in unaffected infants. Segregation analysis of inheritance patterns points to multi-factorial traits and random genetic action provide appropriate models (to a certain extent) for describing the observations. Furthermore, intestinal anomalies can be found in many other genetic disorders, with recent evidence suggesting the presence of GI developmental regulatory genes on chromosome 13q. A possible common pathway to the observed anomalies might be enhanced epithelial adhesiveness, as demonstrated in vitro experiments with fibroblasts. Molecular genetic techniques applied to the smallest human autosome could provide the needed insight into the ultimate mechanisms determining morphogenesis. The development of a murine model is a promising tool for the successful approach to these extraordinarily complex questions.

Digestive System↗
PubMed2006

New classification of hypoganglionosis: congenital and acquired hypoganglionosis.

AIM: Hypoganglionosis has been associated with fewer intestinal ganglion cells. However, current reports questioned the validity of this clinical entity. The aim of this study is to demonstrate the existence of hypoganglionosis. MATERIALS AND METHODS: We have experienced 24 cases of functional intestinal obstruction with abnormalities of the intestinal ganglia. A precise histological examination was performed using quantitative morphometric studies. These results were compared with age-matched controls (n = 13). RESULTS: Based on histological examination, disorders in the ganglion cells could be classified into 3 categories: immaturity of ganglia (n = 13), congenital hypoganglionosis (n = 7), and acquired hypoganglionosis (n = 4). In congenital hypoganglionosis, the number as well as the size of ganglion cells are small at birth. The size of ganglion cells tends to increase over time, but their numbers do not increase; as a result, the symptoms of dysmotility do not improve. On the other hand, acquired hypoganglionosis is late onset and characterized as a degeneration of ganglion cells and gliosis histologically. After performing a resection of the affected bowel, the prognosis is usually good. CONCLUSION: Congenital and acquired hypoganglionosis are 2 distinct entities. The histological findings as well as the clinical characteristics of these 2 types of hypoganglionosis are different.

Digestive System Abnormalities↗
PubMed1991

[Sonography of congenital abnormalities of the gastrointestinal tract].

In 12 children aged from 1 day to 15 years with various kinds of congenital gastrointestinal anomaly (atresia/stenosis in the duodenum, jejunum, or ileum; duplication cyst in the duodenum/Bauhin's valve; ectopic pancreas antropyloric) the almost invariably present disturbance of passage was sonographically documented and located and, in the cases with concomitant processes of the bowel wall, the causative lesion demonstrated. In 3 neonates, the diagnosis including complications (meconium peritonitis with calcifications secondary to small bowel perforation) had already been accurately made prenatally. Despite the always unequivocal ultrasound findings, additional x-ray examinations (only plain in 5, only with contrast medium in 1, plain and with contrast medium in 6 cases) were performed in all patients to confirm the diagnosis and reassure the operator. Comparison of the sonographic with the radiological and, later, with the surgical results showed that, in all cases, ultrasound had already provided the information essential to the surgical intervention. The results indicate that, in future, a substantial reduction of additive x-ray examinations is possible in such diseases and that their early intrauterine sonographic documentation should be attempted much more frequently.

Digestive System↗
PubMed1984

Ultrasonographic antenatal diagnosis: will it change the spectrum of neonatal surgery?

The outcome of 139 fetuses with anatomical abnormalities diagnosed by ultrasonography (out of 15,180 examinations) at our institution during the last 6 years was reviewed. Of these, 56 were diagnosed before 21 weeks gestational age and 83 thereafter. Fifty-four had anomalies of the central nervous system. Of these 27 were diagnosed early. Twenty-six had anomalies of the genitourinary tract, 11 diagnosed early. Four had anomalies of the musculoskeletal system diagnosed early in 3. Thirty-seven had miscellaneous anomalies and early diagnosis was made in 6. Only the early pregnancies were terminated, 38 in number. The fetal diagnosis was clearly confirmed in 33. Of particular interest were the 18 fetuses with anomalies of the gastrointestinal tract and abdominal wall. There were nine early diagnoses. The pregnancy was interrupted in seven. In all the diagnosis was confirmed. Five of these had associated anomalies. Among the 9 fetuses whose anomalies were diagnosed late, 3 had associated anomalies and died shortly after birth before corrective surgery. In all, two fetuses with abdominal wall defects had no detectable associated anomalies and were potentially correctable but the pregnancies were terminated. With earlier, accurate imaging diagnosis possible, special attention has to be directed toward multidisciplined counseling (including a pediatric surgeon) for ultimately satisfactory fetal-neonatal salvage. Otherwise the spectrum of neonatal surgical pathology could be seriously altered.

Abdominal Muscles↗
PubMed1975

Congenital heart disease in Liverpool: 1960--69.

The incidence of congenital heart disease (C.H.D.) in Liverpool from 1960 to 1969 inclusive has been determined from the Liverpool Congenital Abnormalities Registry with a follow-up period of 3 to 12 years. The incidence is 6-6 per 1000 total births and this probably represents a very small degree of under-reporting. There is no consistent seasonal variation in the incidence of any of the main congenital heart lesions. In general, infants with C.H.D. tend to be of lower birth weight and born after shorter gestation than controls. This is most conspicuous with patent ductus arteriosus (P.D.A.). Females preponderate in P.D.A. and males in transposition. There is probably also a male preponderance in coarctation and aortic stenosis. Fallot's tetralogy is associated with increased maternal age and parity. Pregnancies leading to the birth of a baby with C.H.D. are complicated by threatened abortion more frequently than are controls. The concordance rate for C.H.D. in twins is low. Monozygotic twins are more liable to C.H.D. than are dizygotic twins. The incidence of C.H.D. in the siblings of affected propositi is 2-3 times that expected. Affected sibs often have the same lesion. About 20 per cent of infants with C.H.D. have associated major defects notably monogolism and defects of the alimentary, skeletal, genito-urinary and nervous systems. These are responsible for the early death of about one quarter of all infants born with C.H.D. The data presented here suggest that environmental rather than genetic factors are predominantly responsible for congenital heart disease.

Abortion, Threatened↗
PubMed1998

Antenatal diagnosis of congenital anomalies of the biliary tract.

BACKGROUND: The accuracy of the technique of antenatal ultrasonography in the diagnosis of congenital bile duct lesions is unknown. METHODS: Thirteen patients with proven biliary disease who had abnormal antenatal scans were reviewed. Two infants had type I cystic biliary atresia and one had a noncommunicating segmental dilatation of the bile duct in a type 3 biliary atresia. The remainder had choledochal cysts and included two patients with intrahepatic cysts. The correct diagnosis was made antenatally in only two (15%) cases. Of the remaining patients, seven received a diagnosis of intraabdominal cysts of unknown etiology, three of duodenal atresia, and one ovarian cyst. The median gestational age at the antenatal diagnosis was 20 weeks. RESULTS: Jaundice developed in 11 infants, and dilatation of intrahepatic biliary radicals was noted in four of the choledochal cysts. Obstructive jaundice and increasing cyst size were indications for early surgery, and twelve infants underwent a laparotomy at a median age of 4 weeks. During the median follow-up period of 2 years, 12 of the 13 patients have lost their jaundice or remained anicteric. Antenatal diagnosis offers the possibility of early definitive surgery for uncomplicated choledochal dilatation and the chance of improved outcome for surgically treated biliary atresia. An algorithm is suggested for the management of antenatally detected cystic biliary lesions.

Biliary Atresia↗
PubMed2003

Pancreaticobiliary maljunction: retrospective and nationwide survey in Japan.

Pancreaticobiliary maljunction (PBM) is a congenital anomaly defined as a union of the pancreatic and biliary duct that is located outside the duodenal wall. The Japanese Study Group on Pancreaticobiliary Maljunction and the Committee for Registration enrolled and analyzed 1627 patients with PBM who had been diagnosed and treated from January 1, 1990 to December 31, 1999 at 141 hospitals throughout the country. There were 1239 patients with dilatation of the bile duct (group A) and 388 patients without dilatation (group B). The average age was 24 years in group A and 47 years in group B; the age was significantly higher in group B. The type of confluence between the terminal choledochus and the pancreatic duct has been classified into three types (type a, right-angle type; type b, acute-angle type; and type c, complex type). In group A, type a accounted for 57.9% and was significantly more frequent compared with the other types (type b, 32.4%; type c, 5.6%). In group B, type b accounted for 60.8%, being significantly more frequent compared with the other types (type a, 29.4%; type c, 7.2%). Subjective symptoms, preoperative complications (e.g., liver dysfunction and acute pancreatitis), pancreatic stone, and pancreatic duct morphological abnormality were significantly more frequent in group A. However, the amylase levels in the bile and gallbladder were significantly higher in group B, and the presence of gallstone and morphological abnormality of the gallbladder was significantly more frequent in group B. The occurrence rate of cancer in the biliary tract was 10.6% in group A and 37.9% in group B, being significantly higher in group B. In group A, cancer of the extrahepatic bile duct was seen in 33.6% and cancer of the gallbladder was seen in 64.9%, but gallbladder cancer was present significantly more frequently in the patients with diffuse or cylindrical dilatation, and bile duct cancer was present significantly more frequently in the patients with cystic dilatation. In group B, 93.2% of the patients had gallbladder cancer, and bile duct cancer was found in as few as 6.8%. Against this background Japanese surgeons regard cholecystectomy, resection of the extrahepatic bile duct, and hepaticojejunostomy as standard operations for PBM with dilatation of the bile duct. However, opinion on whether or not the bile duct should be removed in the treatment of PBM without dilatation of the bile duct has been divided among Japanese surgeons. A randomized controlled trial is necessary.

Adolescent↗
PubMed1993

Gastrointestinal tract duplications: clinical, pathologic, etiologic, and radiologic considerations.

Gastrointestinal tract duplications are uncommon congenital abnormalities. By definition, they are located in or adjacent to the wall of part of the gastrointestinal tract, have smooth muscle in their walls, and are lined by alimentary tract mucosa. The lining mucosa is not necessarily that of the adjacent segment of the gastrointestinal tract. The only clinically important ectopic tissues are gastric mucosa and pancreatic tissue. Although ectopic gastric mucosa is found in duplications at all levels of the gastrointestinal tract, it is most prevalent (43%) in esophageal duplications. Peptic ulcer within this ectopic tissue can account for unusual, often misleading symptoms. Ectopic pancreatic tissue is most common (37%) in gastric duplications and is associated with pancreatitis and elevated amylase levels. Detection of associated vertebral anomalies is a helpful clue in the radiographic diagnosis of duplications. Barium studies usually reveal an intraluminal, intramural, or extrinsic mass, and ultrasonography (US) demonstrates its cystic nature. When US findings are inconclusive, computed tomography can be used to show the true nature, location, and extent of the lesion, as well as associated vertebral anomalies and possible other duplications. Technetium-99m pertechnetate scintigraphy provides definitive evidence of a duplication when it contains ectopic gastric mucosa and is particularly useful for suspected esophageal, duodenal, and small bowel lesions.

Child↗
PubMed2005

Aberrations of the intrinsic innervation of the anorectum in fetal rats with anorectal malformations.

BACKGROUND: Fecal accumulation, constipation, soiling, and incontinence are common sequelae after repair of anorectal malformations (ARMs) in children. It is believed that besides the abnormalities of sacral roots, certain inherent abnormalities of the myenteric plexuses may play an important role in the final outcome after definitive repair. METHODS: This study was conducted to investigate the distribution of neuron-specific enolase (NSE), vasoactive intestinal peptide (VIP), and substance P (SP)-100 neurotransmitters in the rectosigmoid and fistulous tract of the ethylenethiourea-treated rat with ARMs. RESULTS: ARMs were induced by administering 1% ethylenethiourea (125 mg/kg) on gestational day 10, and the litter was harvested on gestational day 21 by cesarean section. Forty-eight controls and 63 with ARMs (46 high-type and 17 low-type) were recovered. Whole-mount preparations of each rectosigmoid and fistulous communication between the rectum and genitourinary tract were stained with fluorescent antibodies against NSE, VIP, and SP-100. The tissues were counterstained with Eriochrome black-T and methyl green dyes to improve the visualization of the myenteric plexuses. CONCLUSIONS: The immunoreactivity of NSE, VIP, and SP-100 was markedly reduced in the rectum and fistulous tract of high-type ARMs and slightly reduced in low-type ARMs compared with controls. Intramural nerves stained by VIP and SP-100 antisera were decreased in both types of ARM, indicating that both inhibitory and excitatory motor neural elements were affected, and this may explain the distal colonic dysmotility seen postoperatively in both high and low ARMs.

Anal Canal↗
PubMed2003

Malrotation of the gut with tuberculous stricture.

Malrotation of the gut is a congenital anomaly of the gastrointestinal tract and usually present with obstruction in early childhood. Late presentation may come into light for associated pathology. We report a case that had developed obstruction due to tuberculous stricture and not due to the anomaly itself.

Adult↗