Multiple Atresias Research Articles

Immune deficiency in familial duodenal atresia

The familial occurrence of duodenal atresia is uncommon. This study evaluated the inheritance patterns, the nature and associations, and the presence of immunologic deficits in duodenal atresia recurring in at least three siblings each in two nonrelated families. In the first family, an association with Fanconi's anemia was observed in three of seven pregnancies (2 boys, 1 girl) suggesting an autosomal recessive mode of transmission. Patients died as a result of overwhelming (fungal) septicemia in association with pancytopenia. In a second family, identical multiple atresias occurred in two female siblings born 18 months apart and a third child with a duodenal stenosis. Overwhelming sepsis and a T-cell dysfunction was seen in the postoperative period, which had partially corrected by follow-up at 5 months. A history of family occurrence of duodenal atresia should alert the physician to the possibility of associated pathology including immune deficiency states.

Impact of intestinal lengthening on the nutritional outcome for children with short bowel syndrome

Survival among children with short bowel syndrome has increased with the use of supportive nutritional techniques including parenteral and enteral nutrition. Further improvement in outcome has been sought by using intestinal lengthening procedures to lengthen the bowel, improve intestinal motility, initiate a progressive increase in intestinal mucosal mass, and thereby improve tolerance to enteral nutrition. The authors examine the growth parameters and the tolerance to enteral nutrition in children with refractory short bowel syndrome before and after intestinal lengthening procedures. For seven children, the percentage of calories from enteral nutrition, the medical and surgical complications, and the number of days in the hospital (1 year before and 2 years after the lengthening procedure) were evaluated. The mean birth weight was 1,991 g (range, 1,198 to 3,096 g). The initial diagnoses requiring bowel resection included necrotizing enterocolitis, multiple small bowel atresias, gastroschisis with midgut volvulus, cloacal exstrophy, and long-segment Hirschsprung's disease. The mean length of the residual small bowel was 49 cm (range, 6 to 92 cm). All but one child had surgical resection of the ileocecal valve. The percentage of enteral nutrition calories significantly increased by 9 months after the procedure ( P < .008, analysis of variance). Only one child has been completely weaned from parenteral nutrition. All children's growth parameters have been maintained or improved (weight/age, height/age, and weight/height). Few major medical and surgical complications have been observed. Central venous catheter infection has been the most common medical complication. The mean number of hospitalization days decreased during the second year after the lengthening procedure. The authors conclude that the intestinal lengthening procedure enhances the tolerance for enteral nutrition, improves the nutritional status, and decreases the need for hospitalization. The procedure should be considered for children with refractory short bowel syndrome who require prolonged parenteral nutrition.

Management of multiple jejunoileal atresias with an intraluminal SILASTIC ® stent

Multiple small bowel atresias present a unique challenge because maximum intestinal conservation is mandatory for survival. We recently treated a patient who had multiple atresias using a 7F SILASTIC ® catheter as an intraluminal stent. The catheter facilitated the completion of multiple primary anastomoses and served as a conduit for radiological evaluation and enteral feeding. The patient was a 1,860-g boy with 23 atresias of the jejunum and ileum. All stenotic segments were resected, and seven primary anastomoses were completed over the catheter. The distal 34 cm of bowel were exteriorized as a mucus fistula, with the catheter extending through to the level of the ileocecal valve. The proximal jejunal limb also was exteriorized. Eleven days later, contrast was instilled through the catheter and showed no leak or stricture. The catheter was then used for enteral nutrition and administration of the proximal jejunal effluent. Bowel continuity was reestablished after a tapering enteroplasty of the proximal jejunal limb. Parenteral nutrition was ultimately discontinued. Thirty-one months later, the patient no longer requires supplemental nutritional support. This case demonstrates the safety of multiple primary anastomoses over an exteriorized intraluminal stent. The catheter was useful in the radiological evaluation of the distal limb before it was used as an access route for enteral nutrition.

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.

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.

Lethal short-bowel syndrome

Infants with short-bowel syndrome are difficult to manage. Despite supportive measures with parenteral nutrition and surgery to lengthen remaining bowel or increase functional absorptive surface area, the outcome for many of these infants is poor. We have reviewed a series of seven infants diagnosed with severe short bowel. Causes included volvulus (3), multiple atresias (2), and total intestinal aganglionosis (2). Survival time ranged from 15 days to 8 months. During the hospital course, each infant underwent one to three operative procedures to diagnose and manage the short bowel and all received total parenteral nutrition (TPN) ranging from 10 days to 6 months. One infant died of liver failure and two others developed significant liver dysfunction secondary to TPN. Most infants remained hospitalized until their death. Death occurred at an average of 9 weeks following the diagnosis of short-bowel syndrome. This review suggests that infants with less than 6 cm of small bowel beyond the Ligament of Treitz will inevitably die of their disease or treatment complications. Until bowel transplant becomes a viable alternative, operative intervention and nutritional support may prolong survival but will not change the outcome of these infants and will only contribute to additional morbidity. A decision to withhold further therapy would be reasonable at the time the diagnosis is established.

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.

Diamond-shaped anastomosis for duodenal atresia: An experience with 44 patients over 15 years

During the period between 1974 and 1988 44 patients were treated for congenital intrinsic duodenal obstruction using a diamond-shaped anastomosis (35 atresias, including two multiple atresias and nine stenoses). Neither gastrostomy nor transanastomotic tube was used. Postoperatively, oral feeding was started on days 2 to 6 (3.66 +/- 1.41 day). Intravenous fluid administration was discontinued on days 3 to 20 (7.54 +/- 3.58 day). Fourteen patients died, none related to the operative procedure. Of 30 survivors, 21 patients have been followed from 6 months to 15 years. Body weight was within the normal range at the latest visit. Current barium study performed in 19 patients showed no blind loop, megaduodenum, or anastomotic malfunction. The diamond-shaped anastomosis provides the following advantages: (1) early recovery of anastomotic function, and (2) avoidance of later complications, such as formation of a blind loop or anastomotic stenosis.

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.

Duodenoplasty in the management of duodenal atresia

When the duodenum is congenitally obstructed it becomes distended to varying degrees. Our case of combined duodenal and multiple jejunal atresias indicates the value of duodenoplasty for symptomatic duodenomegaly diagnosed in late childhood. The technique used has restored duodenal motility and is recommended for selective use as part of the primary surgery for duodenal and proximal jejunal atresia.

Late Gastrointestinal Bleeding and Protein Loss after Distal Small-Bowel Resection in Infancy

Four children who underwent extensive small-bowel resection in infancy developed recurrent iron deficiency anemia due to gastrointestinal bleeding between 4 and 12 years later. The initial resections were required for multiple ileal atresia (n = 2) and gastroschisis (n = 2). Three patients have had melena and one had persistently guaiac-positive stools. Three patients had protein-losing enteropathy, and in one there was persistent hypoalbuminemia. Colonoscopy identified circumferential ulcerative lesions at the surgical anastomosis (n = 2) and at laparotomy another patient had well-defined linear ulcers close to the surgical anastomosis. Histology demonstrated focal ulceration with chronic inflammation, but did not show granulomata, crypt abscesses, or malignancy. Multiple imaging procedures and gastroduodenoscopy failed to identify an alternative bleeding source. Medical therapy including iron, antacids, sucralfate, H2 antagonists, and cholestyramine was ineffective. Two patients have undergone anastomotic resection. One experienced symptomatic recurrence 4 months after surgery. Repeat colonoscopy found ulceration at the new anastomosis with similar histology. The other patient remains asymptomatic 7 months postsurgery. Recurrent gastrointestinal hemorrhage due to anastomotic ulceration, of unknown etiology, appears to be a late complication of small-bowel resection in infancy.

Late Gastrointestinal Bleeding and Protein Loss after Distal Small‐Bowel Resection in Infancy

Four children who underwent extensive small‐bowel resection in infancy developed recurrent iron deficiency anemia due to gastrointestinal bleeding between 4 and 12 years later. The initial resections were required for multiple ileal atresia (n = 2) and gastroschisis (n = 2). Three patients have had melena and one had persistently guaiac‐positive stools. Three patients had protein‐losing enteropathy, and in one there was persistent hypoalbuminemia. Colonoscopy identified circumferential ulcerative lesions at the surgical anastomosis (n = 2) and at laparotomy another patient had well‐defined linear ulcers close to the surgical anatomosis. Histology demonstrated focal ulceration with chronic inflammation, but did not show granulomata, crypt abcesses, or malignancy. Multiple imaging procedures and gastroduodenoscopy failed to identify an alternative bleeding source. Medical therapy including iron, antacids, sucralfate, H2 antagonists, and cholestyramine was ineffective. Two patients have undergone anastomotic resection. One experienced symptomatic recurrence 4 months after surgery. Repeat colonoscopy found ulceration at the new anatomosis with similar histology. The other patient remains asymptomatic 7 months postsurgery. Recurrent gastrointestinal hemorrhage due to anastomotic ulceration, of unknown etiology, appears to be a late complication of small‐bowel resection in infancy.

Intestinal atresia: factors affecting survival.

Eighty-four patients with congenital jejuno-ileal or colonic atresia treated at this hospital during the years 1961-86 were studied. There were 42 cases of jejunal atresia, seven cases of jejuno-ileal atresia, 33 cases of ileal atresia and two cases of colonic atresia. Multiple atresias occurred in 19 patients. During the first 15 years of the study the mortality rate was 56%. In the last 10 years it was 22%. Multivariate linear modelling techniques were used to determine the factors associated with a fatal outcome. In order of magnitude associations were found between death and year of treatment (P less than 0.01), the type of anastomosis performed to correct the atresis (P less than 0.05), the presence of other congenital abnormalities (P less than 0.01) and presence of a malrotation (P less than 0.02). The anastomoses associated with the highest mortality were those with a stoma. The mean length of bowel resected proximal to the anastomosis was 15 cm and the mean length resected distally 5 cm. Eleven patients had 60 cm or less of small bowel remaining after surgery and only three of these survived. The highest mortality rate can be expected in patients with other congenital abnormalities and those with a malrotation. A primary anastomosis without a stoma is recommended.

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.

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.

Familial multiple jejunal atresia with malrotation

Two siblings with multiple jejunal atresia and malrotation of the midgut are reported. In the first, incomplete rotation of the gut was associated with two jejunal atresias and an intraluminal diaphragm. In the second, there was complete failure of rotation of the gut with two jejunal atresias, one of which had a V-shaped mesenteric defect. I am unaware of any previous reports of familial multi level small intestinal atresias with malrotation. Possible reasons for this association are discussed.

Familial Apple Peel Jejunal Atresia: Surgical, Genetic, and Radiographic Aspects

Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report three new cases of apple peel jejunal atresia, including two from one family. Radiographic evidence of high small bowel obstruction and a malrotated microcolon on preoperative roentgenogram with barium enema should suggest this diagnosis. Five families, including ours, have been reported in which more than one child was affected, and it has been suggested that this disorder is transmitted by an autosomal recessive gene. However, the occurrence of conventional intestinal atresia in other siblings, the association with multiple atresias, and discordance in a set of apparently monozygotic twins indicate that there may be a more complex spectrum of genetic transmission. Subsequent siblings are at increased risk for apple peel atresia or related malformations. Prenatal ultrasound can facilitate early diagnosis and treatment.

Multiple intestinal atresias and encephalomalacia in the survivor after in-utero death of a monozygous co-twin

A twin infant who survived the death of his monochorionic co-twin in utero and was born with multiple jejunoileal atresias and severe cerebral damage is reported. The pathogenesis of these defects is discussed in the light of previously reported similar cases. The incidence of severe brain damage in twins born alive after the intrauterine death of a monochorionic co-twin is high, suggesting brain destruction by embolization of thromboplastin-rich material from the dead fetus via placental vascular anastomoses. A similar mechanism could be evoked in the present case to account for the intestinal atresias, which likely occurred after the 22nd gestational week, i.e. after the normal permeabilization of the embryonic gut. In the light of this observation and similar ones made by others, it is clear that surgical management of congenital defects during the neonatal period should be influenced by the knowledge of in-utero death of a monochorionic co-twin during the second half of gestation.

Prenatal ultrasonic diagnosis of multiple bowel atresias

This case illustrates the course of an obstructive process through spontaneous perforation resulting in decompression of dilated bowel loops. The resulting meconium peritonitis appeared as fetal ascites. Postnatal investigations and laparotomy confirmed the diagnosis of a rare form of multiple congenital atresias of the bowel.

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.