Perinatal management of ventral wall defects.

Reported is the analysis of morbidity, mortality, and mode of delivery in 38 cases of ventral wall defects identified from among 128,500 consecutive live births in Maine (January 1975 to December 1982). Thirteen of the ventral wall defects were classified as gastroschisis, and only one had an additional defect not directly attributable to the ventral wall defect itself. By contrast, 16 of the 25 omphalocele cases had additional defects, including eight congenital heart lesions, four genitourinary malformations, two neural tube defects, and three trisomies. Ten cases of omphalocele and one of gastroschisis died, all as a result of independent defects or involvement of adjacent structures. Intrauterine growth retardation was prominently associated with gastroschisis. Vaginal delivery occurred in three of the six ventral wall defects diagnosed antenatally and in 28 of the 32 ventral wall defects not diagnosed until delivery. The only episode of birth trauma to ventral wall defect sac or abdominal viscera occurred during cesarean section in an undiagnosed case. The present data provide a basis for prognosis and management of antenatally diagnosed ventral wall defects and suggest that these defects are not, a priori, an indication for abdominal delivery.

Idiopathic post-operative pulmonary hypertension in the newborn.

A case of severe pulmonary hypertension following the primary repair of an omphalocele in a term infant is reported. There were no pre-disposing factors known to contribute to the postoperative pulmonary hypertension (PPH). Therapy was successful first by using hyperventilation, and then subsequently with tolazoline. Upper gastrointestinal bleeding limited the use of tolazoline after the first fourty-eight hours. Complete recovery ensued. The occurrence of PPH and the current therapy of this unpredictable condition is discussed.

Congenital anomalies of the umbilicus.

Knowledge of the embryonic developments of the umbilicus and its contents assists the physician in correctly assessing the various anomalies found in this area. Although some will require specialized facilities and care, the majority of these anomalies can be corrected by simple operative means.

Surgical treatment of congenital defects in the abdominal wall.

A series of 28 patients is presented with the two conditions of omphalocoele and gastroschisis treated over a five-year period . Improved survival can be obtained by the use of staged procedures with a silastic prosthesis plus intravenous alimentation with later definitive operation. If peripheral veins are used, serious complications are almost totally avoided. This combined form of therapy is the treatment of choice in infants with massive defects in the abdominal wall.

Omphalocele: a prognostic classification.

A classification for infants born with an omphalocele is proposed that is based on the recognition of four syndromes and two common associated anomalies. The recognition of these syndromes and anomalies in our newborns with an omphalocele provided a better estimate of expected mortality and morbidity than the size of the omphalocele, preoperative rupture, delay in treatment, or low birth weight. This classification should aid the physician in determining priorities regarding the timing and type of treatment for the omphalocele itself.

Prune belly syndrome associated with exomphalos and anorectal agenesis.

We have recently treated a child with prune belly syndrome in association with exomphalos and anorectal agenesis. This case raises the total incidence of exomphalos and anorectal agenesis to four and five, respectively, in our series of 13 cases of prune belly syndrome. Our case report lays emphasis on the severe respiratory problems that can complicate surgery in prune belly patients. We also attempt to relate the pattern of anomalies in our series to the controversy surrounding the embryogenesis of prune belly syndrome and suggest that our case material lends support to the concept of prune belly syndrome being due to an early disturbance of mesodermal development in both the abdominal wall and the urinary tract. We also suggest that the reported occurrence of gastroschisis in association with prune belly syndrome adds weight to the unifying theory of the embryogenesis of gastroschisis and exomphalos.

The problem of "giant" omphalocele.

"Giant" omphalocele implies an abdominal wall defect that is 5 cm or more in diameter with the liver in a central position. Giant omphalocele is often associated with other significant anomalies. Technically it is often difficult to close the abdominal wall defect and a staged repair utilizing prosthetic materials may be necessary. The morbidity and mortality associated with this entity remain significant despite advances in management techniques. Hospitalization is often prolonged and costly. For the best outcome in managing patients with giant omphalocele early attention to hypothermia and other metabolic requirements and long-term attention to nutritional needs are important. Techniques of closing the omphalocele should be adapted to the individual characteristics of the defect, but mobilization and stretching of the abdominal muscles should be begun as a newborn. The term hepatomphalocele implying "liver-containing omphalocele" is suggested to refer to this particular entity.

Bladder duplication with one exstrophy and one cloaca.

Bladder duplication is a rare anomaly. Less than 100 cases of all types have been described in the literature. When duplication of the bladder occurs, it has previously been described as a mirror image or as a septate bladder. A newborn female presented with what appeared to be a complete bladder exstrophy, a large ruptured omphalocele with perforated large bowel, an imperforate anus, and a bifid clitoris. Urine was seen emanating from various sites: the bladder mucosa, the mucous fistula constructed at the time of the colostomy, and the left hemiclitoris. The anatomic puzzle was resolved when multiple studies disclosed the problem to be a bladder duplication. The bladder on the anterior abdominal wall was exstrophied, the intraabdominal bladder was a cloaca, and the left hemiclitoris contained a phallic urethra, which drained the intraabdominal bladder. Total correction with normal function was obtained. This patient demonstrates that bladder duplication may present in various ways.

Nonsurgical (conservative) treatment of giant omphalocele. A report of 10 cases.

Between January 1970 and December 1984, 65 patients with a congenital anterior abdominal wall defect were admitted to the Pediatric Surgical Center of the St. Radbound Hospital, Nijmegen, The Netherlands. There were 39 cases of omphalocele. Ten had giant omphalocele, defined as omphalocele that could not be closed primarily. In these cases, a conservative method of treatment was used. The results are reported of these 10 cases of giant omphalocele with special emphasis on mortality, complications, and length of hospital stay. Mean hospital stay was 95 days. Local infection did not present serious problems. Sepsis occurred in half the patients but was managed with antibiotics. There was one case of late volvulus of the stomach. All local applications, if used regularly, gave rise to complications. Two cases of hypothyroidism caused by the application of povidon-iodine and one case of alcohol intoxication were observed. In early years, one child was lost due to mercury poisoning. There was one early and one late death unrelated to the procedure.

[Intestinal malformations and congenital heart diseases]. / Malformations intestinales et cardiopathies congénitales.

A series of 21 patients with both congenital heart disease and intestinal malformation seen over a 12-year period is reported. The intestinal malformations were: anorectal malformations (11 cases), duodenal atresia (5), omphalocele (4) and common mesentery (1). Congenital heart diseases consisted of: atrial septal defect (ASD) (10 cases), ventricular septal defect (VSD) (2), tetralogy of Fallot (2) and miscellaneous cardiopathies. In patients with anorectal malformations ASD and VSD predominated (6/11 cases) and multiple malformations syndromes were present in 8 cases, including trisomy 13, Vater syndrome, skeletal (4), neurological (3) and renal abnormalities (3); 3 children died. Duodenal atresia was always associated with left-to-right shunt: VSD (3), ductus arteriosus (2), complete atrioventricular canal (1) and trisomy 21 (2); one child died. Omphalocele coexisted with VSD (2), tetralogy of Fallot (1), dual outlet right ventricle (1), trisomy 21 (1) and multiple malformations syndromes (3); 2 children died. The patient with common mesentery had left-to-right shunt. Comparison of this series with data from the literature showed that children with congenital heart disease have a much higher incidence of intestinal malformations than those with normal heart and that they frequently present with multiple malformations (chromosome aberrations or multiple organ lesions). This multiple malformation complex is particularly common in anorectal malformations where the incidence of congenital heart diseases is 9 to 14%, with predominance of VSD and tetralogy of Fallot. In patients with duodenal atresia trisomy 21 is extremely frequent, and the incidence of cardiopathies is 18%; in the absence of trisomy 21 the cardiopathy is complex.(ABSTRACT TRUNCATED AT 250 WORDS)

[Clinico-genetic analysis of omphalocele]. / Kliniko-geneticheskii analiz omfalotsele.

The study of 302 cases of omphalocele in foetus and newborns revealed genetic heterogeneity of this congenital malformation. Multiple birth defects were found in 54.3% of probands, including 11% of cases (Wiedemann-Beckwith syndrome being neglected), diagnosed as syndromes with hereditary etiology. The spectrum of anomalies associated with omphalocele in non-classified complexes corresponds to that for caudal regression and cloaca extrophy syndromes. A positive syntropy index for these anomalies shows that these combinations are not coincidental. The increase of omphalocele incidence among relatives of probands with descending gradient, depending on relationship, is demonstrated, which testifies to multifactorial determination of some omphalocele cases. Empirical risk for sibs was 0.6 +/- 0.3% and the index of inheritance was 50.7 +/- 11.4%.

[Congenital intrapericardial diaphragmatic hernia associated with an omphalocele in a newborn infant]. / L'ernia diaframmatica intrapericardica congenita associata ad onfalocele nel neonato.

The authors present a case of congenital intraperichardic diaphragmatic hernia and omphalocele, diagnosed on post birth day 11. The patient underwent an emergency procedure with evidenced an abdomino-perichardic hernia with perichardic sca due to the presence of a "breach gap" in the central-anterior region of the diaphragm. This rare malformation could be related to a development anomaly of the septum trasversum.

[EMG syndrome. Review apropo of 2 cases]. / Sindrome EMG. Revisión a propósito de dos casos.

Two cases of EMG syndrome are reported (exomphalos, macroglossia, gigantism). One of them died some hours after the birth. A review of clinical findings, pathogenesis and evolution is presented. Only 60 cases of this rare disease are reported in the world literature.