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PubMed2001

The VACTERL association: lessons from the Sonic hedgehog pathway.

VACTERL represents a non-random association of congenital anomalies in humans of poorly known etiology and pathogenesis. From our mutant analysis of Gli genes, which encode transcription factors mediating Sonic hedgehog (Shh) signal transduction, we observed that defective Shh signaling leads to a spectrum of developmental anomalies in mice strikingly similar to those of VACTERL. In this review, we will discuss the function of the three Gli transcription factors in Shh signaling and mammalian development. We propose that VACTERL could be caused by defective Shh signaling during human embryogenesis and suggest that the Gli mutant mice can serve as useful models for studying the pathogenesis of VACTERL.

Abnormalities, Multiple↗
PubMed2003

Spinal anaesthesia in a child with hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS), a complex congenital heart disease, is the most common lethal cardiac defect in neonates. Its treatment includes cardiac transplantation and/or surgical palliation. Associated extracardiac congenital abnormalities are exceptional. We report the case of a neonate with HLHS and anorectal atresia who required urgent surgical management to relieve intestinal obstruction. The surgery was successfully performed under spinal anaesthesia.

Anesthesia, Spinal↗
PubMed1999

Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.

Adult↗
PubMed2002

Sonographic features of anal atresia at 12 weeks.

Anorectal atresia results from abnormal development of the anorectal septum. Prenatal diagnosis is difficult but the condition may be suspected by the sonographic demonstration of a dilated colon. We present the sonographic features of a fetus with anal atresia and a ventricular septal defect at 12 weeks of gestation. This case illustrates that a dilated colon may be present in association with fetal anal atresia as early as 12 weeks.

Abnormalities, Multiple↗
PubMed2000

Neural electrophysiological studies on the external anal sphincter in children with anorectal malformation.

BACKGROUND/PURPOSE: Abnormality of innervation of external anal sphincter is one of the most important factors affecting postoperative anorectal function. The abnormalities of lumbosacral nerves have been reported in many radiological and histopathologic studies. There are few reports on the neurophysiological changes in children with anoractal malformation. The aim of this study was to examine the functional changes of nerves to the external anal sphincter in anorectal malformation. METHODS: Forty-five patients with anorectal malformation underwent studies of latencies of pudendo-anal reflex, spinoanal response, and evoked potential of cauda equine simultaneously. The conduction time of afferent nerve, efferent nerve, and sacral spinal center of pudendo-anal reflex arc were analyzed quantitatively. RESULTS: The latencies of pudendo-anal reflex, spino-anal response, and conduction time of sacral spinal center significantly are prolonged in patients with anorectal malformation (P< .05). There was significant difference between rectourethral fistula group and vestibular fistula group as well as low-type deformity group. The patients with lumbosacral anomalies such as lumbosacral spinal bifida or absence of S4 or S5 had prolonged latencies, especially the pudendo-anal reflex latency. There was significant negative correlation between the latencies and clinical scores. Although pudendoanal reflex latency was longer in patients who had posterior sagittal anorectoplasty than those who had abdominoperineal pull-through procedure, the difference was not significant. CONCLUSIONS: The abnormality of nerves to external anal sphincters is one of the important causes for clinical outcome. The neural lesions vary in each type of anal and lumbosacral deformity.

Adolescent↗
PubMed2001

Colostomy for anorectal anomalies: high incidence of complications.

PURPOSE: The aim of this study was to characterize the type and incidence of complications related to colostomy formation in newborn infants with anorectal anomalies. METHODS: The authors reviewed a 5-year (1994 to 1999) experience of a single institution in the management of neonates with high and intermediate anorectal anomalies who required colostomy at birth. Patients with colostomy still in place have been excluded from the study to maximize the chances of detecting colostomy-related complications. RESULTS: There were 80 neonates with anorectal malformations, of whom, 49 (31 boys and 18 girls) were included in the study. The site of colostomy was sigmoid colon (n = 32), transverse colon (n = 7), and descending colon (n = 10). Thirty-nine colostomies were loop, and the remaining 7 were divided. The median birth weight was 2.96 kg (range, 1.46 to 3.88). The age at colostomy formation was 2 days (range, 1 to 210). Mechanical complications related to colostomy formation were observed in 16 infants (32%) with 3 infants having more than 1 mechanical complication. These included prolapse in 8 (50%), intestinal obstruction (adhesions, intussusception, and volvulus) in 7 (44%), and skin dehiscence in 3 (19%). One neonate had necrotizing enterocolitis (NEC) after colostomy formation. Urinary tract infection was observed after colostomy in 14 infants (29%). The incidence of urinary tract infection was not higher in infants who had loop colostomy (11 of 39, 28%) compared with infants who had divided colostomy (3 of 10, 30%). There were no differences in the incidence of colostomy-related complications and urinary tract infection between male and female infants. There were no deaths in this series. CONCLUSIONS: Formation of colostomy for anorectal anomalies should not be considered a minor procedure. In our experience the incidence of complications after colostomy formation is high. The incidence of urinary tract infections does not seem to be affected by the type of colostomy performed.

Age Factors↗
PubMed2001

Mapping loci causing susceptibility to anal atresia in pigs, using a resource pedigree.

BACKGROUND/PURPOSE: Very little information on the genetic background for anal atresia (anorectal malformations; AA) in humans has been described. A strikingly similar natural anomaly occurs in piglets. The authors have used this as an animal model for various research purposes. The affected piglets were treated surgically soon after birth, raised, and used for breeding. The authors have generated a resource pedigree segregating for this naturally occurring nonsyndromal AA and describe here the first attempt to map susceptibility loci by marker analysis. METHODS: A pig pedigree with a high incidence of AA has been established by selective breeding using 3 probands from the Landrace and Large White breeds. It has been maintained by intrafamilial crossing for more than 15 years. A backcross pedigree has now been generated by mating 4 AA females to an unaffected male from the Chinese Meishan breed. F(1) animals were both intercrossed and backcrossed to affected AA animals. A genome scan was carried out using the F(0), F(1), and affected backcross progeny. Ninety-two microsatellite loci were analyzed using fluorescently labelled primers and an ABI377 sequencer. Linkage analysis was done with the CRI-MAP 2.4 software. RESULTS: Crossing affected parents increased the incidence of abnormalities from 30% to 61.9%. All 39 F(1) pigs were unaffected. In the F(1) intercross, only 3 of 205 (1.5%) were affected, whereas 42 of 523 (8.0%) backcross progeny were affected. The marked difference in the incidence of affected progeny in the F(1) intercross and in the backcross indicates the presence of multiple genes causing AA. The genome scan showed suggestive evidence for the presence of a susceptibility locus on pig chromosome 15 (lod score 2.7 for a pig microsatellite marker SW2072). CONCLUSIONS: The results clearly show that AA has a oligogenic or polygenic background. The genome scan showed one suggestive locus causing AA on pig chromosome 15. The long-term goal is to identify causative genes for this malformation by comparative positional candidate cloning. This study provides, for the first time, linkage mapping of nonsyndromal anorectal malformations with a polygenic inheritance.

Animals↗
PubMed2002

Sigmoid irrigation tube for the management of chronic evacuation disorders.

BACKGROUND/PURPOSE: Antegrade colonic irrigation, in which the right colon is accessed via appendicostomy or cecostomy, now is an important adjunct in the management of children with chronic evacuation disorders. However, in most children, the major area of dysfunction is the left rather than the right colon. The authors developed a simple, percutaneous endoscopic, laparoscopically controlled sigmoid irrigation tube placement and evaluated the results in 4 children. METHODS: A rigid sigmoidoscope is advanced into the upper sigmoid and the loop brought in contact with the abdominal wall under laparoscopic control. A small skin incision is made and a needle pushed across the abdominal and sigmoid walls into the lumen of the sigmoidoscope. A guide wire is advanced through the needle into the scope and retrieved. After the scope is removed, a PEG-type catheter is attached to the guide wire and pulled back, securing the sigmoid loop to the abdominal wall. The tube is subsequently converted to a skin-level device by simply adding an external port valve. RESULTS: All 4 patients achieved prompt evacuation in the sitting position. CONCLUSIONS: Sigmoid tube for antegrade irrigation is an appealing alternative to conventional cecal access. The procedure is simple and may offer physiologic advantages.

Adolescent↗
PubMed2002

Translevator anal anomalies with cutaneous fistulae passing deep to the scrotum.

METHODS: The authors present a series of 9 patients collected from 4 centers with translevator anal anomalies, each of which has a fistula tracking forward deep to the scrotum and opening at the peno-scrotal junction. Whereas some would appear to be covered ani in type, others are deeper and would appear to fit in with an intermediate type of classification emphasizing the idea of a "spectrum" of malformation. RESULTS: The anatomic arrangement, associated anomalies (eg, 2 had hypospadias), and surgical management is described briefly in each case. Careful examination may be necessary to identify the fistula. CONCLUSIONS: It is recommended that the surgery be individualized depending on the findings. On a theoretical embryologic basis there is abnormality in the formation of the outer genital folds, and there also may be abnormality in some cases of the inner genital folds.

Abnormalities, Multiple↗
PubMed2002

Unusual presentations of pouch colon.

Pouch colon associated with high anorectal malformation is a rare anomaly. Two unique anatomic variants of congenital pouch colon, never reported before, are presented.

Abnormalities, Multiple↗
PubMed2002

Pseudoexstrophy associated with megalourethra.

Pseudoexstrophy is a rare exstrophy variant that has musculoskeletal stigmata of the exstrophy complex without any associated defect in the urinary system. The authors report a case of pseudoexstrophy with scaphoid megalourethra, and anorectal malformation. Kidneys and ureters were normal. Preliminary surgery consisted of a divided high sigmoid colostomy. The rare combination of pseudoexstrophy and megalourethra is discussed.

Abnormalities, Multiple↗
PubMed2002

Tubo-ovarian abscess after colonic vaginoplasty for high cloacal anomaly in a 13-year-old girl.

Recently a few articles have been published concerning the long-term follow-up of vaginoplasty of cloaca. However, no postoperative evaluation has been fully described and, in particular, the late complications are still unknown. We report a case of tuboovarian abscess after colonic vaginoplasty for high cloacal anomaly in a 13-year-old girl. She required a left salpingo-oophorectomy and postoperatively showed regular menstruation. Therefore we stress that tubo-ovarian abscess is one of the important late complications after colonic vaginoplasty for high cloacal anomaly.

Abscess↗
PubMed2003

[Sonographic visualization of the axial level of the anal sphincters. Preliminary results in children].

BACKGROUND: The sonographic visualization of anal sphincter structures in children through perineal sections in the sagittal and the coronary plane is unsatisfactory for the assessment of morphologic pathologies. Only the scan direction vertically to the longitudinal axis of the rectum facilitates the showing of the sphincter structures and their circumferential course. Up to now, this could only be achieved by a rectal introduction of the probe. This method has not found any acceptance with the diagnosis of children due to the necessary penetration as well as problems with orientation, resolution and time consuming preparations. METHOD: The anal sphincter structures of 10 children in the age of 2-6 years were examined. As a control group 5 children had no previous operations and a normal bowel movement. The others had previous operations due to anal atresia as well as pathological defecation. The Combison 530D (Kretz) was used. We started with the prototype of a 3D transducer that was derived from those designed for intravaginal use in gynecology. Modifications were made concerning the transducer design, the direction of the ultrasound was changed to 145 degrees forward angulation and a probe with short focus and 7.5 MHz. RESULTS: Our first investigations showed that axial levels calculated from the digitally registered volume scan permit so far not yet achieved visualization of the anal sphincter structures in children. Relevant pathomorphological findings can exactly be located. The examinations are non invasive and well accepted by children.

Anal Canal↗
PubMed2004

TAR syndrome with annular pancreas and anal atresia - a case report.

TAR syndrome is manifested by the presence of hypomegakaryocytic thrombocytopenia and the bilateral absence of radii. An 8-day-old female newborn was referred to our clinic with diagnosis of TAR syndrome and symptoms of intestinal obstruction. On perineal examination she also had anal atresia with rectovestibular fistula. Because of persistent bile-stained drainage from the nasogastric tube, an upper gastrointestinal contrast study was performed and partial duodenal obstruction was detected. At operation, an annular pancreas was encountered and side-to-side duodenoduodenostomy was performed. A small number of gastrointestinal system malformations associated with TAR syndrome has been reported. Our case is unique; the association with annular pancreas and anal atresia with rectovestibular fistula has never been previously reported.

Abnormalities, Multiple↗
PubMed2005

Invertography versus ultrasonography and distal colostography for the determination of bowel-skin distance in children with anorectal malformations.

PURPOSE: To evaluate the usefulness, reliability and sensitivity of invertography, perineal ultrasonography (US) and augmented-pressure distal colostography (APDC) in the diagnostic assessment of children with anorectal malformations (ARM). MATERIAL AND METHODS: Author retrospectively analysed the results of bowel-skin distance measured by means of three different imaging techniques in 39 children with ARM. The obtained results were verified by intraoperative measurements. RESULTS: Sensitivity of invertography performed in 22 patients was 27 % with a mean error of measurement of 0.84 cm, and the difference between measurements and real distance was statistically significant. Sensitivity of perineal US (22 children) was 86 % (mean error 0.12 cm) and of APDC (26 patients) was 100 % (0.05 cm) with no significant difference between measurements and intraoperative findings (p > 0.001). CONCLUSIONS: The study revealed a limited usefulness of invertography in the diagnostic evaluation of ARM. Perineal US was extremely useful in the newborn period and provided reliable information on which to base a decision for either preliminary colostomy or definitive operation. With a colostomy in place APDC, the most sensitive of the three methods, allowed for later precise definition of the defect and visualization of fistulas between bowel and urogenital tract.

Anal Canal↗