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PubMed2002

[Usefulness of fetal echocardiography in the prenatal diagnosis of Down syndrome based on material from the Department for Diagnosis of Congenital Malformation's of the Institute "Polish Mother's Memorial Hospital' in Lodz between 1994-1999. Part II].

In the years 1994-1999 at the Department for Diagnosis of Congenital Malformations at the PPMH Institute, there were ultrasound and echocardiography examinations performed in 40 foetuses with Down Syndrome. In our study most of the cases come from low risk groups of pregnant women. Extracardiac malformations were diagnosed prenatally in 25% fetuses with Down Syndrome. The most common anomaly from extracardiac malformations was duodenal atresia (13/40 cases--32.5%).

Abnormalities, Multiple↗
PubMed2002

Ileal atresia and total colonic aganglionosis.

Herein, the authors report a case of ileal atresia who failed to have good bowel function after primary anastomosis. After the leakage of the revised anastomosis, a thorough pathological review found distal aganglionosis. An ileostomy followed by an ileocolic patch operation were performed for temporary decompression, awaiting intestinal adaptation. A definitive pull-through was performed, eight months later. The child also had bilateral cleft lip together with complete cleft palate, and hemivertebrae of the thoracic spines. A cluster of malformations is unusual in a single patient.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital segmental dilatation of colon with colonic atresia.

Congenital segmental dilatation of the colon belongs to a group of Hirschsprung's-like diseases with normal ganglion cells. The presentation is with chronic constipation affecting older children. We report a neonate with congenital segmental dilatation of the colon associated with sigmoid atresia. The child is well after a colostomy.

Colon, Sigmoid↗
PubMed2006

Second-trimester intra-abdominal bowel dilation in fetuses with gastroschisis predicts neonatal bowel atresia.

OBJECTIVE: To determine in fetuses with gastroschisis the association between intra-abdominal bowel dilation in the second trimester and neonatal bowel atresia. METHODS: We reviewed ultrasound and medical records of fetuses with gastroschisis from January 1998 to August 2004. Fetuses with intra-abdominal bowel dilation in the second trimester were identified and followed into the neonatal period. RESULTS: We identified 58 mother-infant pairs showing fetal gastroschisis, with at least one prenatal ultrasound at our hospital and which were delivered there, or were transported there as newborns. Forty-eight of the 58 fetuses had no intra-abdominal bowel dilation and none of these neonates had bowel atresia. Ten of the 58 fetuses had intra-abdominal bowel dilation and all had bowel atresia at birth (P<0.0001). In eight cases in which ultrasound was performed at <25 weeks' gestation, intra-abdominal bowel dilation was already present. CONCLUSION: Intra-abdominal bowel dilation in the second trimester predicts neonatal bowel atresia in fetuses with gastroschisis.

Dilatation, Pathologic↗
PubMed2003

Distal foregut atresias in consecutive siblings and twins in the same family.

The distal foregut comprises the antrum of the stomach and supra-ampullary region of the duodenum. In this part of the gut, intraluminal mucosal diaphragms, webs, membranes (type I), and rarely solid cord (type II) atresias are occasionally seen in clinical practice. Due to increased awareness, the number of reported cases has increased in recent years. These foregut lesions are known to have a strong genetic association. Both antral (AA) and duodenal atresias (DA) may occur as potentially curable sporadic cases or in combination with lethal malformations such as hereditary multiple gastrointestinal atresias affecting the fore-, mid-, and hindgut. The association of AA and junctional epidermolysis bullosa lethalis is well-known. We describe an unusual occurrence of foregut atresias in two consecutive siblings and a pair of monozygous twins. The involvement of four siblings in a single family is extraordinary and as yet unreported. This cluster of cases not only lends a strong support to a genetic origin, but also the mode of transmission, despite the absence of a history of consanguinity. It indicates that atresia of the gastric antrum and supra-ampullary DA are etiologically closely related. It is also possible that the discordant expression in the twins could be a pleiotropic effect of the same genetic factor. Attempts are made to explain the possible pathogenesis of this unusual atresia and relate it to other associated anomalies.

Dilatation, Pathologic↗
PubMed1991

Double atresia of the hindgut.

An unusual case of double atresia of the rectum, including an imperforate anus is reported. The author was unable to find a similar case published before.

Anus, Imperforate↗
PubMed1988

Neonatal gastric volvulus secondary to rectal atresia.

The "upside-down stomach" is a rare form of organo-axial neonatal volvulus, which occurs because of absent or attenuated anatomical anchors and abnormal motility of the stomach. It is considered a surgical emergency that requires immediate correction. We report a previously undescribed etiology of gastric neonatal volvulus caused by an extremely distended transverse colon, secondary to rectal atresia. The etiologic and diagnostic considerations are discussed. Gastropexy in the form of gastrostomy proved to be an effective treatment.

Humans↗
PubMed1999

Appendicostomy as a venting enterostomy for colonic atresia.

Colonic atresia is usually managed surgically by resection and end-to-end anastomosis but preferably with a venting enterostomy, if presentation is delayed. A new technique of appendicostomy was performed as a venting enterostomy in eight cases of colonic atresia with good results in our children's hospital during the period 1990-1995.

Appendix↗
PubMed1982

Congenital colonic atresia.

Nineteen cases of congenital colon atresia are presented with two deaths resulting in a mortality rate of 10.5%. The authors conclude that operative management of atresias proximal to the splenic flexure should include resection of the dilated proximal colon with primary ileotransverse colostomy or ileosigmoidostomy. Atresias distal to the splenic flexure should be managed with a colostomy with later establishment of gastrointestinal continuity.

Colon↗
PubMed1998

Management of gastroschisis with concomitant jejuno-ileal atresia.

BACKGROUND: The incidence of jejuno-ileal atresia in neonates concomitantly found to possess gastroschisis has been reported to be 5% to 25%. Initial treatment for this condition has not been well established. METHODS: Thirteen newborns with gastroschisis and coexisting jejuno-ileal atresia, were identified and treated at our institution over the past 16 years (1978 through 1996). Patient characteristics at presentation, surgical therapy, and complications at extended follow-up were reviewed. RESULTS: All neonates were preterm (mean gestational age, 35.2 +/- 2.0 weeks) and of low birth weight (2.1 +/- 0.4 kg). Atresia types II, IIIa, IIIb, and IV were identified at the initial surgical procedure in one, eight, one, and three patients respectively; however, one synchronous small bowel atresia went unrecognized. A primary anastomosis was fashioned in 8 of 13 newborns, the creation of which did not influence length of hospitalization, length of total parenteral nutrition (TPN) requirement, complication rate, or survival; however, reoperation was required in two of eight patients to mediate anastomotic complications. Atresia associated with intestinal gangrene or perforation was treated by primary anastomosis in three of six patients and the remaining three by enterostomy. Primary abdominal wall closure was possible in 10 of 13 patients; a Silon pouch was required in three. All nine survivors (69%) displayed protracted small bowel dysfunction requiring TPN (mean TPN duration of 3.6 +/- 3.0 months; range, 1 to 11). Mortality in four patients was a consequence of severe prematurity, Silon pouch wound sepsis, or TPN-induced cirrhosis. CONCLUSIONS: When technically feasible, restoration of intestinal continuity by primary anastomosis is a reasonable treatment option in patients with coexisting gastroschisis and jejuno-ileal atresia. Favorable outcome is as much a function of supportive care and parenteral nutrition as the type of surgical repair performed for either the intestinal or the abdominal wall defect.

Abdominal Muscles↗
PubMed1975

Pyloro-duodenal atresia. A report of three families with several similarly affected children.

Seven patients born with pyloro-duodenal atresia are reported, one had an additional atresia of the small and large bowel, and another had a pneumoperitoneum probably secondary to rupture of the stomach. All patients had the same radiological findings and had no air distal to the pylorus. Consanguinity was elicited in four and a familial incidence of an identical malformation in siblings in six. 6 of the 7 patients were operated on and 4 are living and well 6 months to 5 years later. This report raises the total number of published cases of pyloro-duodenal atresia to 46, and provides further evidence for an autosomal recessive mode of inheritance.

Duodenum↗
PubMed1986

Familial small bowel atresia and stenosis.

A family is described in which three individuals (two siblings and a second cousin) have presented with duodenal or jejunal atresia and duodenal stenosis in association with malrotation. The possible mode of inheritance is discussed.

Cecum↗