Large Omphalocele Research Articles

Cloacal exstrophy sequence: An exceptional ultrasound diagnosis

To establish sonographic criteria for an early prenatal diagnosis of cloacal exstrophy sequence, an extremely rare congenital malformation. We assessed all cases of anterior midline abdominal wall defects occurring between November 1, 1986, and May 31, 1993. The charts of those with cloacal exstrophy sequence were reviewed thoroughly. The sonographic findings in each case of cloacal exstrophy sequence were evaluated and compared with the ultrasonic manifestations in other types of anterior abdominal wall defects. During the study period, six cases of cloacal exstrophy were diagnosed by ultrasound and confirmed by postnatal autopsy examination. Two of the cases were in different twin gestations. There were 58,288 deliveries during the study period; 665 (1.14%) major malformations were diagnosed ultrasonographically. Identical specific sonographic signs appeared in all six cases of cloacal exstrophy. These included a large infraumbilical, anterior midline defect, a protruding large omphalocele, an absent bladder, a narrowed thorax, a distorted spine, a large sacral meningomyelocele, and bilateral clubfeet. In all cases, the fetal bowel was floating in a large amount of ascites within the omphalocele sac. Polyhydramnios was present in four of the six cases. Based on our sonographic criteria, we believe that an accurate prenatal diagnosis of cloacal exstrophy sequence is feasible, even in the first trimester of pregnancy. These signs distinguish cloacal exstrophy from other types of midline anterior abdominal wall defects, ie, gastroschisis, amniotic band syndrome, and limb-body wall complex (body-stalk syndrome).

Umbilical preservation in omphalocele repair

A newborn with a large omphalocele is presented. A new technique of umbilical preservation is introduced. The cosmetic result was excellent, and the method is suitable for both primary and staged omphalocele repairs.

Laparoscopy Using a Simplified Open Technique

Laparoscopy was carried out using a simplified open method on 585 patients. In the group, 173 (29.5%) had undergone a previous laparoscopy or laparotomy, 28 (4.8%) suffered from gross obesity and 1 patient had a large umbilical hernia. Laparoscopy was diagnostic in 216 (37%) patients and operative in 369 (63%). In this series there were no technical failures or major complications; the incidence of minor complications was 2.7%. The above results seem to suggest that open laparoscopy compared to the closed method may offer the advantage of a lack of contraindications secondary to previous surgery, no risk of failure with unintended laparotomy and, possibly, decreased postoperative discomfort. A larger, randomized series to settle the controversy between closed and open laparoscopy regarding the safety differences between the two approaches may result in more widespread use of the open technique.

Advantages and pitfalls of amnion inversion repair for the treatment of large unruptured omphalocele: Results of 22 cases

This is a report of our experience with 22 cases of large unruptured omphaloceles treated by amnion inversion during the period 1973 through 1990. The method is characterized by three stages: (1) a silastic sheet is sutured directly to the skin around the amniotic membrane, under local anaesthesia, without dissection between the skin and the amnion; (2) the reduction of herniated viscera into the abdominal cavity is achieved by squeezing the sheeting using a specially modified stapler; and (3) the amniotic membrane is preserved intact, and inverted into the abdominal cavity at the time of abdominal wall closure. Of the 22 infants, 19 survived with satisfactory results. Two patients died of multiple associated anomalies, and the remaining patient died of sepsis arising at the time of the final abdominal closure. This procedure has proved to be effective and safe for high-risk patients with congenital heart diseases, anal atresia, tracheoesophageal fistula, or bronchial stenosis and prematurity. The practical aspects of the procedure, as well as its advantages and pitfalls, are illustrated.

Cutis laxa, growth retardation and hip dislocation in a Sudanese child

This case report describes the rare variant of autosomal recessive cutis laxa with bone dystrophy in a Sudanese child. The clinical features include cutis laxa, growth and development retardation, facial dysmorphism, hyperextensible joints, dislocation of the hips and a large umbilical hernia.

“C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatment

We report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the fact that C syndrome is still under-recognized and underdiagnosed. Another patient was diagnosed at birth and immediately submitted to craniosynostectomy. A second operation was performed 7 months later resulting in normal brain growth and close to normal psychomotor development at 3 years, in contrast to the third patient, who was not treated surgically and was severely retarded at 4 years.

A 24-year follow-up of a large omphalocele: From silon pouch to pregnancy

In 1970, this patient was first reperted after her massive ventral hernia was repaired. Her large omphalocele was initially covered with skin flaps as a newborn, and at 3 years of age the resulting ventral hernia was completely repaired using the staging technique described by Schuster, and modified by Plzak and Gross. Silon sheeting was used as a temporary prosthesis. She remained well until 1988 (age 23 years) when she became pregnant with the expected date of confinement January 10, 1989. The first two trimesters were uneventful with sonograms showing a normal male fetus who was gaining weight appropriately. By the third trimester the abdominal girth did not increase coincident with the baby's size, vomiting prevented adequate caloric intake, and pelvic pressure from the baby's head caused increasing discomfort. She spent 7 weeks in the hospital on intravenous therapy, including peripheral total parenteral nutrition, and delivered vaginally, with the aid of forceps, a 2.9-kg normal boy 5 weeks prematurely. This is the first reported case of a large omphalocele patient conceiving and delivering a normal fetus. It also demonstrates the potential problems related to multiple surgical procedures to close a large congenital abdominal wall defect.

Unique anomalies in cephalothoracopagus Janiceps conjoined twins with implications for multiple mechanisms in the abnormal embryogenesis

The anatomic features of female conjoined twins with the Janiceps type of cephalothoracopagus are described. Abnormalities included bilateral clefts of the alveolar arches, shared rudimentary mandible, high, arched clavicles, multiple rib deformities, single shared foregut and small intestine, absent large intestines, omphalocele, multicystic kidneys, hypoplastic lungs, interconnected aortas and neck vessels, single ovary with elongated uterus in each twin, displaced labia, abnormal segmentation of the vertebrae, spinal dysraphism, diastasis of the symphysis pubis, malrotated lower extremity, bilateral posterior dislocation of the hips, and club feet. There were two hearts with internal anomalies. Both spinal cords had a myelocele in the lumbar region. The abnormalities noted in previous reports of conjoined twins of this type are reviewed and compared. We propose that factors associated with conjoining, dysgenetic (developmental) defects, and deformations resulting from crowding in utero all may have been important in the abnormal development in this case.

Omphalocele, Cryptorchidism, and Brain Malformations

Nineteen male infants died with a large omphalocele and 52% had associated cryptorchidism. However, two different groups with both omphalocele and cryptorchidism were recognized: (1) Eleven patients with omphalocele without brain malformation and an incidence of undescended testes not significantly different from the normal population; (2) Eight patients with omphalocele and brain malformation all having cryptorchidism. A comparison of the groups indicated that intact intraabdominal pressure during intrauterine life is not a main driving force of testicular descent, whereas normal testicular descent may occur only when the brain is normally developed. Whenever a child with omphalocele and cryptorchidism is examined, careful evaluation of the central nervous system is indicated. This triad of malformations may have prognostic and therapeutic implications.

Congenital absence of ductus arteriosus: an autopsy case

Isolated absence of the ductus arteriosus is extremely rare condition although the ductus arteriosus may be hypoplastic or aplastic in association with other aortic arch anomalies. Authors described a case of isolated agenesis of the ductus arteriosus documented by postmortem examination of a newborn infant who died of pneumonia following operation for a large omphalocele. The heart showed ventricular septal defect. However, no other cardiovascular anomalies were associated in this case. There were three vessels that were taking off from the aorta consisted of the right brachiocephalic artery, left common carotid-artery and left subclavian artery. The anteriorly located pulmonary artery was divided into the right and left pulmonary arteries. There was no connection of vessel between the pulmonary artery and the aorta.

A retrospective study of 91 cases with gastroschisis or omphalocele 1956-1985.

The experiences of treatment of 91 infants with abdominal wall defects during thirty years are presented. The occurrence of gastroschisis increased during the last ten years. The results of treatment have improved markedly during the period of study but there is still a high mortality rate in children with omphalocele and multiple concomitant malformations and in children with gastroschisis and coexisting intestinal atresia. In cases with large omphalocele defects, if primary closure is not possible, an implant is recommended instead of silastic silo, skin flap closure or mercurochrome application. The clinical course in thirty-six patients during the last ten years is reported.

Transient Congenital Hypothyroidism after Topical Iodine in Pregnancy and Lactation

Congenital goiter and (rarely) transient hypothyroidism have been reported to occur sporadically in infants whose mothers received iodides during pregnancy. The present authors report a case of prolonged but transient hypothyroidism without goiter in a girt whose mother used povi-done iodine preparations during pregnancy and lactation. A 6-week-old Jewish girl of Ashkenazi origin, the youngest of five healthy siblings, was referred to the authors' unit because of a low serum total thyroxine concentration of 3 μg/dl (normal value, more than 7 μg/dl), revealed by routine screening for congenital hypothyroidism. She was born at term after an uneventful pregnancy and delivery. Her birth weight was 4000 gm. During the pregnancy, the mother washed herself almost daily with a solution of povidone iodine, a complex of iodine and polyvinylpyrrolidone which releases free iodine in solution, with 1 per cent available iodine. She had also rubbed large areas of her skin with povidone iodine ointment (1 per cent) because of spreading furunculosis. These practices were continued during lactation until referral. The mother's aunt and uncle suffered from a thyroid disorder, the nature of which could not be determined. Physical examination revealed an infant in good condition, with mild jaundice. Her weight was 5.1 kg, her length was 54.5 cm, and her head circumference was 40 cm. Body temperature was normal. No goiter was palpable. The face was round, with a protruding tongue. Respiration was noisy, but there was no sign of respiratory distress. The abdomen was large, and the liver was palpated 3 cm below the costal margin. A large umbilical hernia was present. A neurological examination yielded normal results, except for moderately delayed deep tendon reflexes. Laboratory tests disclosed a free thyroxine serum concentration of 0.4 ng/dl (normal values, 0.7–2 ng/dl). Thyroid-stimulating hormone (TSH) was 99 μU/ml (normal values, 0.8–5 μU/ml). Indirect bilirubin was 95 μmol/liter. Thyroid antibodies were negative in the child and her mother. A thyroid scan yielded normal results. A diagnosis of primary hypothyroidism was made on the basis of raised TSH and decreased thyroxine concentrations, and treatment with t-thyroxine sodium was started. On follow-up, there was an increase in thyroxine and a decrease in TSH concentrations (Table 1). Growth and psychomotor development were normal, and treatment was stopped at the age of 7 months. At 1 year, growth and development were normal.

Surgical management of proboscoid herniae

The management of a large proboscoid umbilical hernia presents challenging problems to the surgeon. As children and parents are concerned with the appearance of the actual hernia they are also intensely interested in the postsurgical result. Presented is a simple one-stage umbilicoplasty that allows repair of the fascial defect and the management of the redundant skin in such a way as to produce a "scarless" and natural-appearing umbilicus.

Omphalocele, cryptorchidism, and brain malformations

Nineteen male infants died with a large omphalocele and 52% had associated cryptorchidism. However, two different groups with both omphalocele and cryptorchidism were recognized: (1) Eleven patients with omphalocele without brain malformation and an incidence of undescended testes not significantly different from the normal population; (2) Eight patients with omphalocele and brain malformation all having cryptorchidism. A comparison of the groups indicated that intact intraabdominal pressure during intrauterine life is not a main driving force of testicular descent, whereas normal testicular descent may occur only when the brain is normally developed. Whenever a child with omphalocele and cryptorchidism is examined, careful evaluation of the central nervous system is indicated. This triad of malformations may have prognostic and therapeutic implications.

An international survey of gastroschisis and omphalocele (490 cases)

An international survey of gastroschisis and omphalocele by questionnaire yeilded 490 cases from 16 pediatric surgery centers on four continents. Factors influencing the management outcome of 203 cases of gastroschisis and 287 cases of omphalocele in the period 1954–1977 are reviewed. In 81% of the gastroschisis cases, the defect was 3 cm or larger in diameter; in only 6% was it as dangerously small as 1 cm. In 58% of cases, only intestines were eviscerated; stomach was included in the eviscerated mass in another 36% and genitourinary organs seldom (6%) were included. In this comparatively early experience with gastroschisis, the operative mortality was 39% but varied widely by and within areas (from 10%–75%). The lowest mortality was associated with primary and skin flap closures. The use of a variety of protheses to cover the eviscerated mass was associated with a high incidence of sepsis and intestinal fistulation. There were 246 cases of non-syndrome omphalocele and 41 cases of syndrome omphalocele. In the non-syndrome omphaloceles, the defect was 2.5 cm or larger in 80% and over 5 cm in 46%. Liver was present in 91% of the large omphalocele sacs, 43% of the intermediate-size sacs and none of the small sacs. Management mortality in non-syndrome omphalocele was 37%. It was lowest in Australia, where only sac painting and primary closure were employed. In syndrome omphalocele mortality was highest (68%) in lower midline syndrome, intermediate (33%) in upper midline syndrome and lowest (0%) in Beckwith-Wiedemann syndrome. The presence of multiple and serious additional malformations was the major factor in omphalocele management mortality. The incidence of additional malformations in small (under 2.5 cm) and large (over 5 cm) omphaloceles was identical (45% vs 46%).

Postoperative fetal circulation: POFC

Active pulmonary vasoconstriction and subsequent right-to-left atrial and/or ductal shunting of venous blood may influence the course of many neonatal cardiorespiratory disorders. The term "persistent fetal circulation" has been applied to these infants. This report concerns the late occurrence of fetal circulation after major intraabdominal operative procedures in two neonates. The first patient was a full-term, 3.6-kg infant with a covered, large liver-containing omphalocele. Cyanosis, hypoxia, and a right-to-left shunt were present at birth, but were improved by 24 hr of life. Primary repair was delayed for 6 days, in the belief that fetal circulation was unlikely to recur. On day 7, primary fascial closure of the omphalocele was followed by severe hypoxia secondary to right-to-left shunt, documented to be due to postoperative fetal circulation (POFC). The second was a 1600-g premature infant who was well until noted to be lethargic on the fourth day of life. Radiologic findings of pneumoperitoneum led to laparotomy and closure of a spontaneous gastric perforation. Twenty-four hours later the patient developed severe hypoxia and a right-to-left shunt at the atrial level was documented with contrast echocardiogram, again supporting the diagnosis of POFC. Each patient survived and has a normal heart. Both patients responded to hyperventilation and/or tolazoline therapy. Contrast echocardiography was a helpful, noninvasive means of establishing the diagnosis. This diagnosis should be considered in postoperative neonates after more common cardiac and pulmonary causes of hypoxia are excluded.

A new nonoperative treatment of large omphaloceles with a polymer membrane

The management of a huge omphalocele that cannot be primarily closed presents many difficulties. When surgery is technically impossible, the application of a Silon pouch carries a serious risk of infection and painting the sac with tinctures has its own peculiar problems. A newborn baby with a large unruptured omphalocele was successfully treated by covering the sac with a skin-like polymer membrane that is flexible, elastic, and impervious to bacteria and water. The covering did not adhere to the underlying tissues and did not interfere with gastrointestinal function. Infection was not a problem. This material was wrapped around the trunk and covered with a dry sterile dressing. The entire dressing was removed after 3 wk, revealing a small residual area of granulations that subsequently healed at home. This baby was not operated upon. We have also used this technique in a second newborn in whom the sac had ruptured. The rent was repaired and the membrane applied. This method does not eliminate later closure of the large ventral hernia, but ccertainly eliminates the necessity for surgery in the newborn period.

Variations in the Bladder Exstrophy Complex Associated with Large Omphalocele

Two newborns with a large omphalocele associated with the bladder exstrophy complex are presented. In 1 case the omphalocele was combined with a musculoskeletal defect and imperforate anus with an anovulvar fistula. The other patient had a musculoskeletal deformity and a duplicated bladder with exstrophy. Surgical treatment was successful in both cases.

A noninvasive method for controlled reduction of omphalocele prostheses

The use of prosthetic materials in the treatment of large omphaloceles and gastroschisis seems to have improved survival. 1–5 Several techniques have been described for subsequent reduction and repair of the prosthetic hernia. Shuster 1 covered the prosthesis with skin flaps that were repeatedly opened in the operating room to cinch up and resuture the underlying teflon and silicone rubber sheets. There are patients, however, in whom the defect is so large and the child so small that skin coverage of the prosthesis is impossible. In 1966 Plzak and Gross 2 and in 1968 Allen and Wrenn 3 described the use of a “Silon sac” without skin coverage. The size of the sac was reduced in stages at 1–3-day intervals by suturing or by simply squeezing off and typing the sac to reduce its size. Gilbert 4 has reported a large series of omphaloceles repaired successfully by this staged removal of a prosthesis. In treating a large omphalocele we devised a clamp to enable the surgeon to roll down the prothesis without involving the interior of the sac with sutures.

Lateral plication of synthetic sack for large gastroschisis and omphalocele defects

A modification of the treatment of giant omphaloceles and gastroschisis by the use of synthetic fabrics to extend the peritoneal cavity consists of two stages: first, the intestines are squeezed out of the sack into the abdomen, and, second, the defect is closed by lateral plication of the prosthetic. The main advantage is that it is suitable for large defects. Other advantages of this method are that obliteration of the sack can be performed in the incubator while asepsis is rigidly practiced, and the hazards of peritoneal contamination and cooling of the infant are obviated. Anesthesia is not required because the skin is not manipulated.