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At least 271 records · Page 15Linked to original sources
PubMed1993

Delayed presentation of intestinal atresia and intussusception--a case report and literature review.

Neonatal intussusception is a rare phenomenon. We report a case where intestinal obstruction became evident after eight days in an infant of 32 weeks gestational age and 0.94 kg birth weight. Laparotomy revealed a type 2 ileal atresia, present as a result of ischaemic injury secondary to intra-uterine intussusception. Resection of the intussuscepted segment was carried out with primary anastomotic repair leading to a good outcome. A period of eight days passed before clinically evident abdominal distension was noted. We address reasons why this may have occurred.

Anastomosis, Surgical↗
PubMed1995

Intestinal atresia following intraamniotic use of dyes.

Since 1990 avoidance of methylene blue as a dye in diagnostic amniocentesis is recommended. This is a result of the observation that a high incidence of jejunoileal atresia appeared in twin pregnancies following intraamniotic injection of methylene blue. We report four further cases of jejunoileal atresia in twins after intraamniotic injection of dyes since 1991. We describe the clinical course, discuss possible teratogenic mechanisms and emphasize again that synthetic dyes should not be used in second trimester amniocentesis.

Abnormalities, Drug-Induced↗
PubMed1996

Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly.

We report on a male child with "apple peel" atresia, associated with microcephaly, with subsequent hydrocephalus, short stature, moderate global developmental delay and ocular abnormalities. A similar phenotype was previously reported by Stromme et al. in 1993 in female siblings, and this description of another affected individual provides further evidence for this being a distinct syndromic entity.

Abnormalities, Multiple↗
PubMedDate not supplied

[Apple Peel syndrome: an uncommon form of intestinal atresia (author's transl)].

A case of Apple Peel syndrome in a 1,800 g. premature female infant is reported. In a two stage approach, the dilated proximal segment of the jejunum was treated with jejunoplasty and termino-terminal anastomosis. After 55 days of total parenteral nutrition, oral feedings were instituted with good tolerance and satisfactory weight gain. Five months postoperatively, her weight is 5,500 g. and is on a standard diet for her age.

Female↗
PubMed2005

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.

Brain↗
PubMed1981

Intestinal atresia caused by second trimester amniocentesis. Case report.

In an amniotic fluid sample obtained by mid-trimester amniocentesis a string of fetal mucosa and submucosa from the small intestine was found. The fetus was aborted 21 days after the amniocentesis. There was no lesion of the abdominal wall, but an ileal atresia, fibrous adhesions, bilateral hydronephrosis and kinked ureters were found at autopsy.

Adult↗
PubMed1990

Intrauterine intussusception causing intestinal atresia.

The patient presented at the age of 2 days with persistent bilious vomiting, failure to pass meconium and urine, and progressive abdominal distension dating from birth, and a clinical diagnosis of intestinal obstruction was made. This was confirmed by plain abdominal radiographs. At laparotomy atresia of the terminal ileum was found. The proximal and distal segments of the bowel ended blindly and there was a V-shaped defect in the adjoining mesentery. The blind ends were resected and an end-to-back anastomosis was performed. The lumen of the resected distal segment contained an intussusceptum.

Anastomosis, Surgical↗
PubMed1993

Vitamin A status in biliary atresia: intestinal absorption and liver storage of retinol.

The vitamin A status of 19 patients with corrected biliary atresia was examined. They had been receiving 5,000 IU of oral vitamin A daily postoperatively. Plasma vitamin A levels in the nonjaundiced group were almost within normal range, whereas those in the jaundiced group were significantly low compared with the controls. In the oral vitamin A tolerance test, plasma vitamin A levels increased from 33.1 +/- 11.8 to 215.4 +/- 100.7 micrograms/dL in the nonjaundiced group, and from 23.1 +/- 10.3 to 209.8 +/- 154.2 micrograms/dL in the slightly jaundiced group, at 4 hours after the administration of vitamin A, showing no difference between both group and control. In the severely jaundiced group, plasma vitamin A levels increased from 13.5 +/- 3.5 to 30.0 +/- 14.6 micrograms/dL, a significantly smaller increase compared with controls. However, liver vitamin A levels were greater than 20 micrograms/g liver in all patients, irrespective of the presence of jaundice. This study suggested that nutritional support to facilitate the synthesis of retinol-binding protein may be an important factor in addition to vitamin A supplementation.

Administration, Oral↗
PubMed2000

A novel technique for correction of intestinal atresia at the ligament of Treitz.

PURPOSE: After reconstruction of jejunal atresias at the ligament of Treitz, many patients do not respond to simple tapering and anastomosis requiring repetitive operations because of dysfunction of dilated proximal bowel. A new operative approach using lateral duodenectomy and duodenojejunostomy (LDAD) is reported. METHODS: Three infants with atresias within 10 cm of the ligament of Treitz were treated with LDAD, and their records are reviewed retrospectively. The entire duodenum is visualized after creating a malrotation; this is followed by opening the dilated duodenum and resecting dilated proximal jejunum. The resection is extended proximally, incorporating the lateral duodenal incision, excising the lateral duodenal wall, and preserving the ampulla. The residual duodenum is fashioned into a tube and anastomosed to the spatulated distal jejunum. RESULTS: Three infants underwent this procedure over a 4-year period. Two had undergone tapering enteroplasties previously but were unable to tolerate oral feedings; 1 infant had LDAD primarily. All were ultimately successfully managed by LDAD and were feeding within 14 days. Follow-up is from 14 to 49 months. CONCLUSION: Although experience is limited to 3 patients, the prompt return of intestinal function with LDAD may justify primary use of this more radical procedure in difficult-to-treat proximal atresias.

Duodenostomy↗
PubMed1989

[Multiple intestinal atresias. Report of 2 cases].

We report two new cases of multiple gastrointestinal atresias as described by Guttman and al in 1973. The clinical presentation is characteristic: the newborn presents himself with a neonatal occlusion. Plain abdominal film shows gas in a distended stomach with intraluminal calcifications. At laparotomy in both cases a diaphragm was present at the pyloric region followed by innumerable diaphragms only a few centimeters apart until the rectum in the first case, and the right colon in the second one. Reconstruction of the intestinal lumen was impossible and the babies died due to sepsis. Pathologic finding in both cases were those of numerous intraluminal diaphragm associated in the first cases with types II atresias. There was no normal epithelium from the stomach to the rectum. This strongly supports the hypothesis of a malformation of the gastrointestinal tract occurring during early fetal life. The possibility of an autosomic recessive transmission of the process was outlined by Guttman.

Female↗
PubMed1994

Intestinal bilious vomiting--an unusual presentation of intestinal atresia in the newborn.

A female pre-term infant was delivered to a teenage mother who had fresh "meconium-stained" liquor during labour. At resuscitation, the baby had copious amount of greenish effluent coming from and also sucked out of the pharynx and stomach. She was subsequently diagnosed as having ileal atresia; the initially thought "meconium stained" liquor was the result of in-utero bilious vomiting, secondary to the intestinal obstruction. She had resection of the atretic bowel and end to back anastomosis; she died 24 days post-operatively.

Bile↗
PubMed2004

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

AIMS/HYPOTHESIS: Neonatal diabetes is a rare disease with several identified molecular aetiologies. Despite associations with other malformations, neonatal diabetes with intestinal and biliary anomalies has not been described. The current study aims to describe a new syndrome, and to examine a possible link with one of three genes known to cause neonatal diabetes. METHODS: Five clinical cases are described. Immunohistochemical staining for pancreatic islet hormones was performed on three of the infants. DNA from one infant was analysed for abnormalities of the PLAGL-1 (ZAC), glucokinase and PDX-1 (IPF-1) genes. RESULTS: Five infants (two sibling pairs from two families, and an isolated case) presented with neonatal diabetes, hypoplastic or annular pancreas, jejunal atresia, duodenal atresia and gall bladder aplasia or hypoaplasia. One sibling pair was born to consanguineous parents. One patient with a milder form is surviving free of insulin. Four children died in the first year of life despite aggressive medical management. Pancreatic immunohistochemistry revealed few scattered chromogranin-A-positive cell clusters but complete absence of insulin, glucagon and somatostatin. Exocrine histology was variable. In one case from the consanguineous family, molecular analysis showed no duplication or uniparental isodisomy of PLAGL-1 at 6q24, no contiguous gene deletion involving the glucokinase gene, and no mutation in the coding sequences or splice sites of PDX-1. CONCLUSIONS/INTERPRETATION: This combination of multiple congenital abnormalities has not been previously described and probably represents a new autosomal recessive syndrome involving a genetic abnormality that interferes with normal islet development and whose aetiology is as yet unknown.

Abnormalities, Multiple↗