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PubMed2005

Split notochord syndrome variant: prenatal findings and neonatal management.

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage.

Abnormalities, Multiple↗
PubMed1983

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism.

A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, -13,+13qter leads to cen::13q13 leads to qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.

Abnormalities, Multiple↗
PubMedDate not supplied

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.

Adult↗
PubMed1988

OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester.

OEIS complex (exstrophy of the cloaca) is an association of fetal malformations that includes omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. Most cases should be prenatally detectable by maternal serum alpha-fetoprotein screening, but an accurate diagnosis is essential for appropriate counselling of the family.

Adult↗
PubMed1989

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.

Adult↗
PubMed1994

Human maternal uniparental disomy for chromosome 16 and fetal development.

Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two-vessel cord on ultrasound, and cessation of growth at 25 weeks. At post-mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities.

Adult↗
PubMed1986

The dawn of paediatric surgery: Johannes Fatio (1649-1691)--his life, his work and his horrible end.

Johannes Fatio was probably the first surgeon who systematically studied and treated surgical condition of children. Born in Basle in 1649, he never studied medicine at the university there but became a member of the barber's guild. Later he studied medicine and became a doctor of the University of Valence. He returned to Basle to practice surgery, midwifery and paediatric surgery. He wrote a number of medical books, but only one, The Helvetic Reasonable Midwife, still exists. In it he devotes a whole section to surgical afflictions of children. He describes ingenuous operations for such conditions as hypospadias, hydrocolpos, imperforate anus and many more. He was the first surgeon successfully to separate conjoined twins. He became involved in the turbulent politics of the city of Basle and was largely responsible for the overthrow and modern ratio of the Basle parliament and government. In the following counter-revolution he was captured, imprisoned, tortured and executed. All his written works were destroyed by the authorities; The Helvetic Reasonable Midwife was published 70 years after his death.

General Surgery↗
PubMed1986

The history of colostomy in childhood.

The idea of performing a colostomy in a child was first brought up by Littré in 1710. It lasted, however, 50 years until the first successful operation was published. Especially in the 19th century various ways to approach the colon have been practiced with frequently disappointing results (lumbar, inguinal approach). Only at the end of the century, colostomy was used as a guide for a pull-through operation. With improved surgical and anaesthesiological techniques, colostomy has gained more importance as a temporary measure in order to postpone definitive surgery. Various new techniques have been developed within the same time. In our days, colostomy is a safe procedure and has a more defined place in handling children with imperforate anus and Hirschsprung's disease.

Child↗
PubMed1986

Pediatric surgery in Islamic medicine from the Middle Ages to the Renaissance.

Albucasis lived throughout the tenth century, practicing medicine for more than 40 years in Zahra at the outskirts of Cordoba. This was the period of the greatest splendour of Arab domination of Spain. Albucasis taught medicine at the university of Cordoba and published an encyclopedia of medicine comprising 30 volumes, the last one dealing with surgery. This work was translated into all civilized languages and was the standard medical textbook right till the eighteenth century. This paper deals with many pediatric surgical conditions as described in Albucasis' 30th volume. The pathology and treatment of harelip, hydrocephalus, the adenoids, ranula, gynecomastia, imperforated external urinary meatus, circumcision, hermaphrodites, imperforate anus, and supernumerary and webbed finger were all described by Albucasis, and his remarks are discussed here in some detail.

General Surgery↗
PubMed1989

Studies on the rectoanal reflex in children and in experimental animals: an evaluation of neuronal control of the rectoanal reflex.

A single-chamber pressure probe for rectal electromanometry was developed which seems to be superior to the complicated multichamber systems not only for clinical but also for experimental purposes. Measurements of rectoanal reflex were carried out in 268 cases with abnormal bowel function, in 103 cases following operation for Hirschsprung's disease, and in 61 cases of imperforate anus to assess postoperative continence. Experimental studies were performed in 36 dogs, 27 of which were used for short-term and 9 for long-term studies. The results of clinical and experimental studies are described and discussed, with accompanying literature. From clinical and experimental studies, the neuronal pathways of the rectoanal reflex are schematized. The normal rectoanal reflex is mediated by both the sacral cord and the myenteric neurons. It is concluded that measurements of the anal resting pressure and the rectoanal reflex constitute a valuable method to distinguish between normal and pathological sacral and myenteric innervation.

Anal Canal↗
PubMed1985

Clinical features in a case with ring chromosome 13.

A 30-month-old boy with severe psychomotor retardation and numerous developmental anomalies, such as small trigonocephalic head, craniofacial anomalies, malformations of fingers with hypoplastic thumbs, anomalies of urogenital organs and imperforate anus, is presented. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation between clinical features and the observed chromosome aberration is discussed. Hitherto unreported developmental brain anomalies with partial exhibited skeletal abnormalities, some not reported previously.

Abnormalities, Multiple↗
PubMed1997

Cantrell's pentalogy. Report of four cases and their management.

Four neonates with the uncommon Cantrell's pentalogy seen in our hospital within a 6-month period without any apparent factor in common are described, with a review of the world literature. The first case was diagnosed prenatally at 15 weeks' gestation, the earliest intrauterine finding in the literature. The occurrence of imperforate anus with the syndrome, observed in one of the cases, has not been previously reported. Two were operated upon and only one of the four survived. This high mortality was confirmed by similar cases reported by other authors.

Abdominal Muscles↗
PubMed1991

Bilateral gluteus maximus transposition for anal incontinence.

Seven patients (five men and two women) ranging in age from 26 to 65 years (means = 44) underwent bilateral gluteus maximus transposition for complete anal incontinence. The indications for operation were sphincter destruction secondary to multiple fistulotomies (n = 4), bilateral pudendal nerve damage (n = 2), and high imperforate anus (n = 1). The procedure is performed without the use of a diverting colostomy. The inferior portion of the origin of each gluteus maximus is detached from the sacrum and coccyx, bifurcated, and tunneled subcutaneously to encircle the anus. The ends are then sutured together to form two opposing slings of voluntary muscle. Postoperatively, six patients regained continence to solid stool, two to liquid stool as well, and only one patient in this group was able to control flatus. Although resting pressures remained unchanged, voluntary squeeze pressures were restored by this operation. In addition, rectal sensation was markedly improved, which helps make this a worthwhile procedure for properly selected patients.

Adult↗
PubMed2000

Restoring control: the Acticon Neosphincter artificial bowel sphincter in the treatment of anal incontinence.

PURPOSE: Anal incontinence is a socially disabling problem affecting 1 to 2 percent of the population. Anal sphincter replacement is a treatment option if the problem is severe and not amenable to direct repair. The artificial bowel sphincter is an innovative approach. We report the technique for placement and the outcomes which have occurred in an initial series of 13 patients. METHODS: The Acticon Neosphincter artificial bowel sphincter consists of an inflatable cuff of silicone elastomer placed around the anal canal and connected to a pressure-regulating balloon in the iliac fossa via a control pump placed in the labium or scrotum. Thirteen patients with severe anal incontinence not amenable to other methods were treated. Causes of incontinence included obstetric damage in eight patients, surgical damage in two patients, imperforate anus in two patients, and spina bifida in one patient. RESULTS: Surgical placement of the device was straightforward, mean operating time was 65 minutes, and median length of stay was 3.6 days. One infection of the perineal wound occurred in the early postoperative period necessitating removal of the device. In two further patients the artificial bowel sphincter was removed because of late infection in one at seven months and because of erosion through the skin in another at three months. The artificial bowel sphincter has been activated in ten patients resulting in full continence to solids and liquids except in one patient with postvagotomy diarrhea who had some leakage of liquids during episodes of diarrhea. The mean (+/- standard deviation) continence score (Cleveland Clinic system; maximal incontinence = 20) changed from 18.7 +/- 1.6 preoperatively to 2.1 +/- 2.6 after activation (P < 0.0001). Quality of life measured using a continence-specific series of up to 39 questions changed from 77 +/- 16 percent of maximal reduction of quality preoperatively to 12 +/- 19 percent postoperatively (P < 0.001). CONCLUSIONS: The artificial bowel sphincter can be placed without technical difficulty and with low morbidity. Preliminary experience shows full restoration of continence in most patients and ease of use. Longer follow-up is needed to determine the extent of problems with infection, erosion, and mechanical failure.

Adult↗
PubMed1985

A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations.

The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

Bronchial Fistula↗
PubMed1988

The expanded spectrum of limb anomalies in the VATER association.

The radiographs of 230 children who had undergone neonatal surgery for imperforate anus and/or esophageal atresia/tracheoesophageal fistula were reviewed. Of the 31 children with limb anomalies thus detected, the 24 who had no radiologic or laboratory evidence of chromosomal abnormality form the basis of this report. In 16 children the limb anomalies fell within the commonly described spectrum of the VATER association. In the other 8 children and in 3 of the children with typical VATER limb anomalies additional anomalies were encountered: Sprengel deformity [2], hypoplasia of the humerus [3], radioulnar synostosis [1], midline anomalies of the hand [1], absence of the pubis, femur, tibia, and fibula and two rays of the foot [1], and other foot deformities. Subtle anomalies of the hand were common and included: clinodactyly, syndactyly, shortening of the middle phalanx of the fifth digit, and rotary malposition of the digits.

Abnormalities, Multiple↗
PubMed1985

Free and reverse smooth muscle plasty in rats and goats.

Free autologous smooth muscle transplants were performed in 59 Wistar rats from 70 to 90 days old. The free smooth-muscle transplants were prestretched by 0 percent, 100 percent, 120 percent, 150 percent, and 200 percent under resting conditions, and the animals were sacrificed on postoperative days five, 10, 20, 40, and 60, respectively. Five animals died postoperatively. Three of them died with ileus and stenosis after 150 percent prestretching of the transplant. Complications occurred in 11 other animals, and involved ileus in nine due to stenosis or increasing defecation difficulty resulting from post-150-percent-transplant-prestretching-obstruction phenomena. No relaxation reflex was observed manometrically in any of the transplants. Histology confirmed that smooth-muscle necrosis and connective-tissue multiplication increase with increasing prestretching of the transplant. With prestretching of 150 percent or more, the transplant underwent complete fibrosis. Subsequently anorectal smooth-muscle pedunculated flaps (tunnel grafts) were performed on 20 goats of Syrian and German pedigree. Manometric, histologic, and histochemical results were much better in smooth-muscle transplantation of this nature. Even in these animals, however, increased fibrosis and disintegration of the transplant was shown histologically in all animals with more than 150 percent graft prestretch. After 200 percent prestretch, additional myenteric plexus disintegration was observed and no relaxation could be achieved. Based on these clinical, manometric, and histologic results, smooth-muscle transposition (tunnel graft) can be recommended to improve continence in infants as a non-time-consuming modification of the well-established Rehbein-Romualdi-Kiesewetter pull-through procedure in the high imperforate anus. However, prestretching of the transplanted pedicle flap should not exceed 120 to 140 percent.

Anal Canal↗