Gastrointestinal Atresias Research Articles

Multiple gastrointestinal atresias

Three neonates with numerous mucosal septal atresias that occluded the intestinal lumen, commencing at the prepyloric region and ending at the rectum, are reported. The clinical and pathological features are presented and an attempt is made to offer a concept for the pathogenesis of multiple gastrointestinal atresias.

Health Supervision for Children With Down Syndrome

These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well. Children with Down syndrome have multiple malformations and mental retardation due to the presence of extra genetic material from chromosome 21. Although the phenotype is variable, usually there is enough consistency to enable the experienced clinician to suspect the diagnosis. Among the more common physical features are hypotonia, small brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excess skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly. A wide space, often with a deep fissure, between the first and second toes is also common. The degree of mental retardation is variable, ranging from mild (IQ, 50 to 70) to moderate (IQ, 35 to 50), and only occasionally to severe (IQ, 20 to 35). There is an increased risk of congenital heart disease (50%); leukemia (<1%); deafness (75%); serous otitis media (50% to 70%); Hirschsprung disease (<1%); gastrointestinal atresias (12%); eye disease (60%), including cataracts (15%) and severe refractive errors (50%); acquired hip dislocation (6%); and thyroid disease (15%). Social quotient may be improved with early intervention techniques.

Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?

Although the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P less than 0.01), (2) mother's age with oral clefts (6% for less than 25 years, 1% for 25-34, and 0% for greater than 34, P less than 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a history of fever, P less than 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome.

Multiple gastrointestinal atresias: sonography of associated biliary abnormalities

The pre-operative finding of biliary ductal dilatation in the setting of multiple gastrointestinal atresias has not been previously reported. This paper illustrates the sonographic findings in two neonates with multiple gastrointestinal atresias from the prepyloric region to the rectum. Biliary ductal dilatation was seen in both patients and highly echogenic, mobile intraluminal bowel debris secondary to calcified meconium was evident in one. Post-operative biliary gas was demonstrated on sonography in one case.

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

Multiple gastrointestinal atresias with imperforate anus: Pathology and pathogenesis

The syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure of recanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.

Gastro-intestinal atresias in Finland in 1970-79, indicating time-place clustering.

Information on oesophageal, duodenal and rectal atresias was collected from the hospitals, malformation register and death certificates in Finland from 1970-79. The respective prevalence rates were 4.1, 1.4 and 3.6 per 10,000 births, which are among the highest rates cited in the literature. Mothers of children with oesophageal and duodenal atresias were older than the average for child-bearing women in Finland. The sex ratio (male/female) of rectal atresia patients was 2.4. About 50% of the atresia patients had associated malformations. The data indicated time-spaced clustering for atresias. Furthermore, the cases of oesophageal and duodenal atresias appeared to spread within a time period of 30 days from a province to its neighbouring provinces to the north. Spreading was not observed for rectal atresias but clustering was noted when smaller geographic areas and individual communities were analysed. Occupations involving animal contacts were overpresented among the fathers of atresia patients. The data suggest infective aetiology, probably with no known clinical symptoms and no seasonal patterns.

Pyloric atresia associated with ileal and rectal atresia

Multiple gastrointestinal atresias is a rare, autosomal-recessively inherited condition. A case of congenital pyloric atresia associated with ileal and rectal atresias is reported. Corrective surgery was carried out, but the child died at 1 month of age from associated sepsis. The syndrome of multiple atreasias affecting various levels in the gastrointestinal tract is probably a distinct entitiy; its pathogenesis is still unknown and it carries a high mortality.

Individualized management of colonic atresia

Atresia of the colon represents the least common cause of neonatal intestinal obstruction, comprising less than 10 percent of gastrointestinal atresias. Eleven patients underwent surgical repair of colonic atresia during a 5 year period. Five of the patients were premature. Two had associated gastroschisis and other congenital anomalies were present in three patients. Hypaque enema was utilized to diagnose intestinal atresia and laparotomy was then undertaken. Primary repair could be performed in four patients, one with type I and three with type 3 atresias. These four patients did well and were discharged within 13 days after operation. Three deaths occurred in patients with associated anomalies, yielding a mortality rate of 28 percent. Operative therapy of colonic atresia should be individualized, based on the condition of the patient at presentation and the presence of associated birth defects.

New observations on the pathogenesis of multiple intestinal atresias

It has been suggested that multiple intestinal atresias result from multiple ischemic infarctions of the intestinal tract. We have studied surgical material from 59 neonates with intestinal atresias seen at our hospital between 1975 and 1986. Forty (68%) patients had single intestinal atresias and 19 (32%) had multiple atresias. There were seven cases of hereditary multiple atresias seen in three families and 12 cases of nonhereditary multiple atresias. All hereditary cases had numerous type I or type II gastrointestinal atresias but none had type IIIa atresia. Six of the seven hereditary cases had multiple atresias in the small as well as large bowel. The 12 patients with nonhereditary atresias had various types of atresias but mesenteric or intestinal interruption was observed in only two patients. All patients with hereditary multiple intestinal atresias showed identical microscopic appearances in the small and large intestine, consisting of sieve-like multiple lumina, each surrounded by its own mucosa and muscularis mucosae but sharing a common muscle coat. There was no evidence of lanugo, bile pigments, or squames within the lumen distal to atretic segments in any of these patients. Six nonhereditary cases who had multiple septal atresias affecting only the small bowel demonstrated essentially similar lesions on microscopic examination as seen in hereditary cases. There was no evidence of arterial occlusion in the mesentery and lanugo, bile pigments, and squames could not be found distally in the intestinal contents in any of these cases. These pathologic findings suggest that all cases of hereditary multiple intestinal atresias and some cases of nonhereditary multiple intestinal atresias are a consequence of a malformative process of the gastrointestinal tract rather than an ischemic process.

Multiple gastrointestinal atresias in three consecutive siblings: Observations on pathogenesis

Three consecutive siblings with innumerable membranous gastrointestinal atresias, beginning at the prepyloric region and ending in the rectum, are reported. Microscopic examination of the small and large intestine showed multiple, tiny lumina each surrounded by a separate mucosa and muscularis mucosae but by a single muscular layer at the periphery. The pathological findings and hereditary character of these atresias suggest that a defect in recanalization during a solid stage of development involving the whole of the gastrointestinal tract may be the cause of these atresias.

Ultrasound diagnosis and perinatal management of surgically correctable fetal malformations.

Among 276 fetal malformations detected during the nine year period there were 97 potentially correctable anomalies which are described in detail as are the antenatal and postnatal corrective procedures undertaken. On 35 hydrocephalic fetuses 9 were operated upon postnatally in the last 2 yr. Three months after the operation four of the babies were found to be developing normally, three moderately well while two were severely retarded. Two out six babies with cystic hygroma were successfully operated after birth and their development is now normal. Of 23 malformations of the gastro-intestinal tract (two diaphragmatic hernias, three esophageal, four duodenal and four jejunal atresias, seven omphalocele, three gastroschisis) 13 babies were successfully operated and are developing normally. In 8 out of 10 antenatally detected cases of obstructive uropathy antenatal intervention was undertaken. In one case a shunt catheter was inserted for the last three weeks before delivery. Puncture and urine evacuation was performed in seven of the babies. Five were live born and surgical correction was successfully undertaken after birth, while two died (one multiple malformations and the other respiratory distress syndrome). After excluding multiple and chromosomal anomalies the best results are obtained in the correction of gastro-intestinal tract atresia (9 of 11) and obstructive uropathy (5 of 7), where once a passage has been established the baby develops normally. Interventions such as shunts in hydrocephalic babies are always a matter for discussion in relation to the final outcome, but when there is no other choice, this too is a way of endeavouring to help such a baby. Early antenatal diagnosis is therefore extremely important when interruption of pregnancy is still feasible. In cases of malformations detected at a later gestational age early diagnosis facilitates the assessment of the development of the affected organ, possible timely antenatal correction, team consultation regarding the time and mode of delivery and preparations for postnatal correction. Such an antenatal approach makes it possible to significantly influence the perinatal outcome.

Progressive partial lipodystrophy in association with intrauterine death and growth retardation

Atresia and fistula of the esophagus are among the most common congenital anomalies, but their prenatal diagnosis is only rarely achieved by ultrasonography, amniofetography or cu-fetoprotein (AFP) determination. Intra-amniotic injection of radiopaque dye into the amniotic cavity and radiologic imaging of the fetal gastrointestinal tract have been used most frequently in pregnancies with hydramnios and the sonographic finding of absent fluid in the gastrointestinal tract. It is known, however, that partial passage of the x-ray contrast medium into the fetal intestine in cases of esophageal atresia can occur, thus giving rise to a false negative diagnosis. A simple and reliable biochemical marker present in the amniotic fluid would be of great practical importance. Amniotic fluid acetylcholinesterase as a possible marker for the prenatal diagnosis of esophageal atresia was recently suggested by a case report of a pregnancy characterized by fetal esophageal atresia, polyhydramnios, ambiguous amniofetography, a normal amniotic fluid AFP concentration, and an elevated amniotic fluid acetylcholinesterase level.’ To test the reliability of this proposed marker we retrospectively examined samples of clear amniotic fluid obtained at second-trimester amniocenteses of three pregnancies, each of which proved to be complicated by upper gastrointestinal atresia. Two of these cases had a positive acetylcholinesterase band on gel electrophoresis and normal AFP concentrations. In one case of an esophageal atresia with tracheoesophageal fistula a normal AFP value and no specific acetylcholinesterase band was found on electrophoresis.

Amniotic fluid acetylcholinesterase as a prenatal diagnostic marker for upper gastrointestinal atresias

Amniotic fluid acetylcholinesterase as a prenatal diagnostic marker for upper gastrointestinal atresias

Hydramnios and gastrointestinal atresias: a review.

Hydramnios occurs in approximately 1:244 pregnancies. It has a known high association with congenital anomalies. Gastrointestinal atresias are common. The incidence, etiology, disease features, treatment, mortality, and prenatal diagnosis of gastrointestinal atresias are discussed here, along with other associated anomalies.

Malrotation—The ubiquitous anomaly

Although anomalies of rotation and fixation of the gastrointestinal tract are recognized to be associated frequently with anomalies of the abdominal wall and diaphragmatic hernia, the frequency with which these common anomalies are associated with other congenital and acquired lesions of the gastrointestinal tract has not been sufficiently emphasized. Sixty-two percent of our series of 34 patients were associated with such lesions as upper gastrointestinal atresias and stenoses, intussusception, and Hirschsprung's disease. The embryologic and anatomic features of rotational anomalies, their clinical presentation, and radiologic features are presented with the suggestion that knowledge of this information, along with the appreciation of the frequent association of malrotation with other common congenital and acquired abnormalities, will help to prevent the devastating morbidity and mortality of undiagnosed midgut volvulus.

Severe congenital skin defects in a newborn: Case report and relevance of several obstetrical parameters

The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.

Congenital atresia and stenosis of the colon

To the 53 cases of successfully treated colonic atresia and stenosis 16 previously unreported cases are added. Resection and primary anastomosis is advocated for colonic atresia proximal to the splenic flexure, and proximal colostomy and subsequent resection and primary anastomosis is recommended for similar lesions beyond the splenic flexure. Routine contrast enema is suggested in all patients with jejunal or ileal atresia or stenosis to avoid overlooking an associated colonic atresia or stenosis. Of 209 infants operated upon for gastrointestinal atresias and stenosis, 22 or 10.5 per cent were colonic in a 22-year period. Sixteen of the 22 infants survived.