Clinical and manometric postoperative evaluation of posterior sagital anorectoplasty (PSARP) in patients with upper and intermediate anorectal malformations

PSARP is currently the most widely-used surgical technique for surgical correction of high and intermediary anorectal malformations, but there is much controversy in the literature about the postoperative evaluation of these cases. We studied 27 cases of anorectal malformations operated with PSARP from clinical and manometric aspects in order to analyze: 1) fecal continence; 2) the relationship between fecal continence and the associated sacral anomalies and; 3) the relationship between the postoperative manometric evaluation and fecal continence. From the analysis of 27 cases of high and intermediary anorectal malformations, we concluded that: 1) fecal continence was achieved in 48.14 percent of the cases; partial fecal continence in 25.92 percent; and fecal incontinence in 25.92 percent of the cases; 2) the presence of fecal incontinence was directly related to the association of sacral anomalies and; 3) anorectal manometry is a useful test to evaluate the patients operated by PSARP, due to the existence of a relationship between the manometric results and the degree of fecal continence.     

Fecal incontinence in children with anorectal malformations

Children with anorectal malformations suffer from postoperative fecal incontinence as well as other forms of defecation disorders such as constipation, soiling, and incontinence associated with episodes of diarrhea. Indiscriminate use of laxatives, enemas, and pharmacotherapy is not recommended. Rather, it is possible to systematically diagnose and manage fecal incontinence after reconstruction for anorectal malformations. Three groups of children have been identified: candidates for reoperation, candidates for a bowel management program, and pseudoincontinent children. Postoperative evaluation for fecal incontinence should include accurate identification of the type of anorectal anomaly and knowledge of the original reconstructive procedure. In addition, history, physical examination, and review of radiological studies are mandatory, with detailed attention paid to the status of the striated external sphincter musculature and sacrum. Children then can be managed based on the type of fecal incontinence from which they suffer. Bowel management is successful only when performed in an organized manner, and it is recommended as an outpatient procedure.     

Comparison of urodynamic investigations before and after posterior sagittal anorectoplasty for anorectal malformations

METHODS: The authors evaluated 21 patients (10 boys, 11 girls) who had anorectal malformations (ARM). Ten of them had infralevator (low-group I) and 11 of them had supralevator (high-group II) type ARM. All of the patients underwent urodynamic investigation before and after posterior sagittal anorectoplasty (PSARP) operation. RESULTS: Sacral and spinal anomalies were found in 54% (6 of 11) patients who had supralevator type ARM. None of the patients with infralevator type ARM had additional sacral or spinal anomalies. Before PSARP operation urodynamic investigations of all infralevator type ARM patients were within normal limits, whereas 82% (9 of 11) of patients with supralevator type ARM showed neurovesical dysfunction (NVD). There was no significant difference between the preoperative and postoperative urodynamic findings. The possibility of additional sacral or spinal anomalies and NVD in supralevator type ARM was high. After PSARP operation no additional lower urinary tract dysfunction was detected in the urodynamic evaluation of ARM patients.     

Alveolar soft-part sarcoma: further evidence by FISH for the involvement of chromosome band 17q25

BACKGROUND/PURPOSE: Down's syndrome is a common association in patients with anorectal malformations. The purpose of this study was to determine whether the anorectal defect in patients with Down's syndrome had specific characteristics and whether the presence of Down's syndrome represented a serious detriment to the patient's functional prognosis. METHODS: Nine hundred eighty-seven patients with anorectal malformations were studied retrospectively. Twenty patients (2%) had Down's syndrome. Nineteen of these (95%) had the same specific type of anorectal defect: imperforate anus with no fistula. This defect has a good prognosis, the rectum is located about 2 cm above the perineal skin, the sacrum is normal, and the sphincter mechanism is good. For comparison, a group of 34 patients with the same defect but without Down's syndrome was also studied. All patients were operated on via posterior sagittal approach by the same surgeon. RESULTS: Imperforate anus without fistula occurs in 5% of all patients with anorectal malformations and in 95% of those patients who also suffer from Down's syndrome. The characteristics of the defect were the same in both groups of patients, and surprisingly, the prognosis was good in both groups (80% to 96% of patients had voluntary bowel movement, 100% had urinary continence). CONCLUSIONS: The association of Down's syndrome with imperforate anus without fistula is not coincidental. This particular benign defect can be predicted to occur in most patients with Down's syndrome. The presence of Down's syndrome in cases of anorectal malformations should not be a contraindication to repairing the imperforate anus and to closing the colostomy.     

Short colon malformation with imperforate anus

Ten cases of a rare high anorectal malformation associated with short colon are presented. The significance of a large gas fluid level (occupying more than half of the abdominal cavity on invertogram) is stressed for pre-operative diagnosis. Terminal colostomy or ileostomy with disconnection of colo-vesical/colo-vaginal fistula has been considered the only adequate therapy. Associated congenital malformations have been responsible for high mortality in these patients.     

Dysraphic myelodysplasias associated with urogenital and anorectal anomalies: prevalence and types seen with MR imaging

OBJECTIVE: The purpose of this study was to determine by MR imaging the prevalence and types of dysraphic abnormalities of the spinal cord (i.e., myelodysplasias) associated with urogenital and anorectal malformations of childhood. MATERIALS AND METHODS: Since 1987, 92 patients with imperforate anus complex, cloacal malformation, and cloacal exstrophy have had MR imaging as a screening examination for occult dysraphic myelodysplasia. The prevalence and types of myelodysplasia were determined for each group. RESULTS: The prevalence of dysraphic myelodysplasia in each group of children was 17% (1/6) for low imperforate anus (ectopic anus), 34% (11/32) for high imperforate anus (with fistulization), 46% (19/41) for cloacal malformation, and 100% (13/13) for cloacal exstrophy. The most common abnormalities in each group were tethered cord with intradural or filar lipoma in imperforate anus; low-placed or dysplastic conus medullaris and tethered cord with lipoma or myelolipoma in cloacal malformation; and lipomyelocele, lipomyelomeningocele, or lipomyelocystocele in cloacal exstrophy. CONCLUSION: Our results show that the prevalence of myelodysplasia as seen on MR imaging is high in patients with urogenital and anorectal anomalies.     

Unusual anorectal anomalies. A clinical contribution

Anorectal malformations (ARM) include a spectrum of anomalies which have been subdivided as "high", "intermediate" and "low"; a fourth group, defined as "miscellaneous", collects the forms which are most rarely observed. It is important, for a specialist, to know the last ones under the diagnostic and/or therapeutic profile. In this paper, the various problems observed in five cases of ARM considered particularly rare are analysed: a case of anorectal agenesia with recto-cloacal fistula and short uro-genital sinus; a rectal atresia with normal anal canal; a case of anorectal stenosis; an incomplete anal membrane; an anal agenesia with scrotal fistula.     

Effects of nicotine, pilocarpine, and tetrahydroaminoacridine on hippocampal theta waves in freely moving rabbits

Fifty-eight patients with anorectal malformations were closely followed up for postoperative anorectal function. Constipation was noted shortly after anorectoplasty in 10 of 28 low anomalies (35.7%) treated with limited sagittal anorectoplasty (LSARP), in 18 of 25 high or intermediate anomalies (72.0%) treated with posterior sagittal anorectoplasty (PSARP), but in none of 5 high or intermediate anomalies treated with Rehbein's mucosa-stripping endorectal pull-through and anterior sagittal perineal anorectoplasty (R-ASAP). The constipation resolved mostly within 1-2 years after repair under conservative management, but persisted beyond 2 years after repair in 3/25 children with LSARP and 10/25 with PSARP. Anal soiling was noted in 1/23 (4.3%) LSARP and 6/22 (27.3%) PSARP patients, but normal anorectal function was attained in 20/23 LSARP (86.9%) and 11/12 PSARP patients (50.0%) by the time of toilet training. Manometric studies disclosed that the resting rectal pressure (RRP) was lower and the anorectal pressure gradient (ARPG) higher in the constipated than the non-constipated children, while the RRP was higher and the ARPG lower in the soiled than the non-soiled patients. The ARPG after R-ASPA was close to that of non-constipated and in between that of the constipated and soiled patients. The rectoanal sphincter inhibitory reflex was not related to defecation status or surgical procedures, but showed a tendency toward positive conversion with time or after exclusion of esctatic terminal bowel in the severely constipated. It is concluded that anorectal function in patients with repaired imperforate anus seems to be more affected by the extent of endopelvic dissection than by preservation of the terminal bowel or sphincter muscles.     

Pseudoexstrophy associated with congenital pouch colon

Pseudoexstrophy or covered exstrophy is a rare exstrophy variant. The authors report a case of covered exstrophy that presented as a newborn with widely separated pubic bones and rectus muscles, a low-set umbilicus, and a subcutaneous bladder. The anal opening was absent, and there was a complex malformation of the external genitalia consisting of a small, laterally displaced penis and a right-sided ectopic hemiscrotum. Micturition and urinary continence were normal. The child also had a high anorectal malformation with a coexistent type IV congenital pouch colon (CPC) malformation. Both kidneys were normal. Preliminary surgery consisted of a divided sigmoid colostomy proximal to the colonic pouch. The literature is reviewed and the embryogenesis of pseudoexstrophy and its associated malformations are discussed.     

Vater or Vacterl syndrome (author's transl)

Analysis of malformations in 65 newborns with limb anomalies, 39 with esophageal atresia with tracheoesophageal fistula, and 41 with anal atresia confirmed the nonrandom tendency for the defects of the VATER or VACTERL syndrome to associate together. 11 new patients with 4 or more of these anomalies were compared with 41 previously reported cases. There was good agreement with reference to the frequency of the major malformations noted in the VACTERL association. While anal atresia was not so common in our patients, cardiac anomalies and radial limb dysplasia occurred somewhat more frequently. In accordance with previous findings we also emphasize a single umbilical artery as one of the malformations in the spectrum of the VACTERL association (V = vertebral defects and vascular anomalies). Because of the high incidence of rib anomalies in our patients and in earlier cases with complete medical records it is suggested that the scope of the VACTERL association should be enlarged by this malformation. Thus the R in VACTERL would stand not only for renal defects but als for rib anomalies. Furthermore, the spectrum of anomalies could be extended by auricular defects (A = anal atresia and auricular defects). When one of these VACTERL components is found attention should be drawn to the possibility of the presence of the other associated anomalies. The developmentally correlated malformations seen in the VACTERL syndrome are generally sporadically observed. At the present time the etiology is unknown but heterogeneity is suggested. Although a causal relationship between maternal intake of progesteron/estrogen during the vulnerable period of embryogenesis and the VACTERL syndrome has been suggested, none of the mothers of our patients were exposed to these hormones during early pregnancy. Cytogenetic investigation in one patient and his mother showed a so-called marker chromosome 9 (C9qh+ variant) which is difficult to interpret at the present time.     

Gastrointestinal manifestations of vascular anomalies in childhood: varied etiologies require multiple therapeutic modalities

BACKGROUND/PURPOSE: Vascular anomalies, including hemangiomas and vascular malformations afford complex diagnostic and therapeutic challenges when gastrointestinal (GI) manifestations are present. METHODS: Twenty-one patients evaluated or treated in our Vascular Anomalies Program from 1993 through 1997 were reviewed retrospectively with regard to presentation, treatment modalities, and outcome. RESULTS: Four patients had hemangiomas, and 17 had various vascular malformations. GI symptoms began in infancy or early childhood in all patients. Manifestations included GI bleeding (n = 15), obstruction (n = 2), diarrhea (n = 2), ascites (n = 2), pain (n = 1), emesis (n = 1), ileo-ileal intussusception (n = 1), protein-losing enteropathy (n = 1), and hypersplenism (n = 1). Four patients had proven portal hypertension. Fourteen had associated musculoskeletal or cutaneous lesions. Congestive heart failure, partial anomalous pulmonary venous return, pulmonary edema, and pleural or pericardial effusion occurred in one patient each. Bleeding was the most common symptom of both hemangiomas and malformations. Of four patients with hemangiomas, three were treated with corticosteroids or interferon. Endoscopic banding and embolization of an associated arterioportal hepatic shunt were each used in one patient. One patient died. The malformations were treated with resection (n = 8), endoscopic banding or sclerosis (n = 7), percutaneous or intraoperative sclerosis (n = 5), embolization or device interruption (n = 3), and portosystemic shunt (n = 2). GI symptoms were ameliorated in 12 patients with malformation, improved in two, unchanged in two, and one died after prolonged palliation. CONCLUSIONS: Vascular anomalies with gastrointestinal manifestations are heterogeneous in their presentation and type. Although bleeding is the most common symptom of both hemangiomas and vascular malformations, treatment differs. Pharmacological angiogenesis inhibition is the mainstay of hemangioma therapy. Resection, endoscopic or radiologic vascular obliteration, and portal decompression are important in treating vascular malformations. An individualized and interdisciplinary approach is often required to successfully diagnose and treat these complex lesions.     

Cryptorchidism in boys with imperforate anus

In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher was the incidence of cryptorchidism. The incidence of renal and ureteric malformations and dysplasias showed a parallel tendency. The incidence of vertebral malformations and dysplasias in the T10-S5 area was low among patients with a covered anus or a perineal fistula. Cryptorchidism was found associated with urological and with T10-S5 vertebral malformations and dysplasias. Recognition of this association is probably new. The histopathological findings of testicular biopsy specimens and the location of the undescended testes in patients with an imperforate anus showed the same pattern as seen in undescended testes from patients with cryptorchidism only. These findings, together with the existing literature on the subject, indicate that further studies on the association of cryptorchidism, urological, and T10-S5 vertebral malformations and dysplasias may be very helpful toward a better understanding of cryptorchidism in general.     

Restaurant smoking restrictions and environmental tobacco smoke exposure

Epididymo-orchitis, an uncommon cause of acute scrotum in prepubertal boys, is infection or inflammation of epididymis and testis. Epididymo-orchitis may be associated with urinary tract infections or reflux of urine predisposed by an underlying vasal anomaly. Two infants with anorectal malformations who presented with acute scrotum are reported. The surgical exploration of the testes showed findings consistent with epididymo-orchitis. Further radiological investigations of urinary tract showed vasal anomalies in both patients. If a patient with anorectal malformation presents with acute scrotum, epididymo-orchitis should be suspected initially. Evaluations should be directed toward defining predisposing vasal anomaly, and appropriate therapeutic measures should be undertaken to prevent recurrences.     

Incidence of some surgically correctable congenital abnormalities in South Australia

A retrospective 5 yr survey of the incidence of some neonatal surgically correctable congenital abnormalities in South Australia has been carried out. Meaningful figures have been obtained for the incidence, in terms of the live birth rate, of obstructive malformation of the gastrointestinal tract, major abdominal wall and diaphragmatic defects, and some anomalies of the genitourinary system. In the main, the incidence of these malformations is similar to that reported from other centers. However the incidence of exomphalos and small bowel obstructions is lower in this series than in others, and the incidence of tracheoesophageal and anorectal anomalies appears to be slightly higher in South Australia than in Victoria. The incidence of diaphragmatic defects, excluding esophageal hiatus, is very similar to that ascertained by the perinatal mortality survey carried out by Butler and Claireaux.     

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands

We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly, and nail hypoplasia. Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. The radiological abnormalities are helpful in differentiating Pallister-Hall syndrome from the other syndromes in which hypothalamic hamartoblastoma is observed. This is of major importance for genetic counselling, since Pallister-Hall syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.     

TNF inhibits myogenesis and downregulates the expression of myogenic regulatory factors myoD and myogenin

Pulmonary agenesis is a rare malformation that can be isolated or associated with other anomalies. We became interested in pulmonary agenesis after evaluation of a child with right pulmonary agenesis, an unlobed left lung, bilateral cleft lip and palate, maxillary and mandibular hypoplasia, bilateral microtia, bilateral radial ray hypoplasia, horseshoe kidney, and complex congenital heart disease. A review of the occurrence of pulmonary agenesis with other congenital anomalies uncovered a striking association with ipsilateral radial ray defects and/or hemifacial microsomia. The presence of bilateral facial or radial ray anomalies was indicative of bilateral pulmonary involvement. A review of the cases of pulmonary agenesis and associated anomalies at the Children's Hospital and Medical Center confirmed the association of pulmonary agenesis and ipsilateral involvement of face and/or radial ray. The association of pulmonary agenesis and ipsilateral malformations may shed light on its pathogenesis. Although the cause of these associated anomalies remains unclear, abnormalities in the development of the aortic arches during embryogenesis is an attractive hypothesis.     

A horseshoe adrenal gland in an infant with asplenia

Adrenal anomalies are rare, and when present are usually associated with renal malformations. In this article we present a case of "horseshoe" adrenal glands in a patient with asplenia, various cardiac anomalies and normal kidneys and bladder.     

Congenital renal tract malformations. A comparison of two consecutive autopsy series during an eleven-year period

In a previous paper, a significant recent increase in the incidence of congenital renal tract malformations discovered in perinatal autopsies at the Royal Women's Hospital, Brisbane, was reported. In an attempt to throw some light on the cause of this increase, both the types of renal tract malformations and the associated abnormalities in other systems observed during the past 15 months were compared with those observed in the same institution during the preceding nine years; no significant differences were detected. However, when these groups were compared with similar studies elsewhere, there were obvious differences in both the type of renal tract lesion discovered and in their associated anomalies.     

The role of intraocular lenses in anterior chamber contamination during cataract surgery

The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.