Delayed diagnosis of anorectal malformations (ARM): causes and consequences in a resource-constrained environment.

PURPOSE: Delay in diagnosis or referral of patients with an anorectal malformation (ARM) is associated with significant morbidity and mortality. We describe the frequency and consequences of delay in recognition or referral of patients with ARM. Our study aims to determine whether the source healthcare facility affects the timing of diagnosis and to identify modifiable factors that may expedite diagnosis and referral. METHODS: Retrospective study of patients referred to a pediatric surgical service with a newly diagnosed ARM between July 2002 and December 2010. Data retrieved included patient demographics, perinatal history, time of diagnosis, clinical findings, management, and morbidity and mortality. Delay was defined as diagnosis after 24 h of birth or transfer to the tertiary referral centre more than 24 h after diagnosis. RESULTS: 273 patients (186 males, 87 females) were referred during the study period. Delays were seen in 158 (57.9%) patients with morbidity in 58 (36.7%, p < 0.001) and mortality in 9 (5.7%, p = 0.008). Delay was more frequent amongst babies born in community health centres (CHCs) than in hospitals (90.5 vs. 55.1%, p = 0.002). The median age at diagnosis was 3 days (range 2 days to 5 years). CONCLUSION: There is a need for staff education, particularly in CHCs, concerning routine neonatal examination and normal perineal anatomy. Girls, in whom a decompressive fistula is often present, are at particular risk of diagnostic delay. Delay causes increased morbidity and mortality.

Urethro-ejaculatory duct reflux in children: an updated review.

AIM: Reflux of urine into the ejaculatory ducts of children may result in recurrent orchitis and sterility. Urethro-ejaculatory duct reflux (UER) is an uncommonly reported condition in children. The diagnosis of this condition can be made using a micturating cystourethrogram (MCUG) to demonstrate the reflux of contrast into any of the ejaculatory ducts. The aim of this study was to look at the incidence of UER in the broader pediatric population and review the management options. METHODS: A retrospective study was made of all MCUGs done in boys up to 13 years of age in all service departments caring for children in a teaching hospital. Those studies demonstrating UER were correlated with the hospital and departmental clinical notes. RESULTS: Over a 6 1/2 year period, 360 MCUGs were done in boys, and UER was demonstrated in 54 boys treated in seven departments. Twenty-three patients had recognized causes of UER. Eighteen patients were found to have other urological pathologies, and seven patients had neurological or complex VACTERL pathologies. The remaining six patients had no underlying pathology but presented with orchitis or torsion. Reflux into the seminal vesicles was the most frequent finding (74%), but reflux into the ductus deferens was the most debilitating. Orchitis was seen in a total of nine patients, and biopsies showed severe destruction of testicular tissue in these patients. Management of patients with recognized UER consisted of attempted correction of the underlying pathology and prolonged antibiotics. Where this failed in 6 patients, vasectomy was done in 4, and injection of a bulking gel into the verumontanum was done in 2 patients to prevent ongoing orchitis and pain. CONCLUSION: UER is more common then originally thought. All boys who present with uro-genital symptoms should have a MCUG as part of the investigative work-up and be scrutinized for UER. Management should aim at correcting any underlying anomaly and providing prolonged antibiotics, but vasectomy and the injection of a bulking agent should be considered. The indications for these newer forms of treatment are not clearly defined.

Use of MV and kV imager correlation for maintaining continuous real-time 3D internal marker tracking during beam interruptions.

The integration of onboard kV imaging together with a MV electronic portal imaging device (EPID) on linear accelerators (LINAC) can provide an easy to implement real-time 3D organ position monitoring solution for treatment delivery. Currently, real-time MV-kV tracking has only been demonstrated by simultaneous imagining by both MV and kV imaging devices. However, modalities such as step-and-shoot IMRT (SS-IMRT), which inherently contain MV beam interruptions, can lead to loss of target information necessary for 3D localization. Additionally, continuous kV imaging throughout the treatment delivery can lead to high levels of imaging dose to the patient. This work demonstrates for the first time how full 3D target tracking can be maintained even in the presence of such beam interruption, or MV/kV beam interleave, by use of a relatively simple correlation model together with MV-kV tracking. A moving correlation model was constructed using both present and prior positions of the marker in the available MV or kV image to compute the position of the marker on the interrupted imager. A commercially available radiotherapy system, equipped with both MV and kV imaging devices, was used to deliver typical SS-IMRT lung treatment plans to a 4D phantom containing internally embedded metallic markers. To simulate actual lung tumor motion, previous recorded 4D lung patient motion data were used. Lung tumor motion data of five separate patients were inputted into the 4D phantom, and typical SS-IMRT lung plans were delivered to simulate actual clinical deliveries. Application of the correlation model to SS-IMRT lung treatment deliveries was found to be an effective solution for maintaining continuous 3D tracking during 'step' beam interruptions. For deliveries involving five or more gantry angles with 50 or more fields per plan, the positional errors were found to have < or =1 mm root mean squared error (RMSE) in all three spatial directions. In addition to increasing the robustness of MV-kV tracking against beam interruption, it was also found that use of correlation can be an effective way of lowering kV dose to the patient and for increasing kV image quality by reduction of MV scatter interference.

Real-time 3D internal marker tracking during arc radiotherapy by the use of combined MV-kV imaging.

To minimize the adverse dosimetric effect caused by tumor motion, it is desirable to have real-time knowledge of the tumor position throughout the beam delivery process. A promising technique to realize the real-time image guided scheme in external beam radiation therapy is through the combined use of MV and onboard kV beam imaging. The success of this MV-kV triangulation approach for fixed-gantry radiation therapy has been demonstrated. With the increasing acceptance of modern arc radiotherapy in the clinics, a timely and clinically important question is whether the image guidance strategy can be extended to arc therapy to provide the urgently needed real-time tumor motion information. While conceptually feasible, there are a number of theoretical and practical issues specific to the arc delivery that need to be resolved before clinical implementation. The purpose of this work is to establish a robust procedure of system calibration for combined MV and kV imaging for internal marker tracking during arc delivery and to demonstrate the feasibility and accuracy of the technique. A commercially available LINAC equipped with an onboard kV imager and electronic portal imaging device (EPID) was used for the study. A custom built phantom with multiple ball bearings was used to calibrate the stereoscopic MV-kV imaging system to provide the transformation parameters from imaging pixels to 3D world coordinates. The accuracy of the fiducial tracking system was examined using a 4D motion phantom capable of moving in accordance with a pre-programmed trajectory. Overall, spatial accuracy of MV-kV fiducial tracking during the arc delivery process for normal adult breathing amplitude and period was found to be better than 1 mm. For fast motion, the results depended on the imaging frame rates. The RMS error ranged from approximately 0.5 mm for the normal adult breathing pattern to approximately 1.5 mm for more extreme cases with a low imaging frame rate of 3.4 Hz. In general, highly accurate real-time tracking of implanted markers using hybrid MV-kV imaging is achievable and the technique should be useful to improve the beam targeting accuracy of arc therapy.

Fast internal marker tracking algorithm for onboard MV and kV imaging systems.

Intrafraction organ motion can limit the advantage of highly conformal dose techniques such as intensity modulated radiation therapy (IMRT) due to target position uncertainty. To ensure high accuracy in beam targeting, real-time knowledge of the target location is highly desired throughout the beam delivery process. This knowledge can be gained through imaging of internally implanted radio-opaque markers with fluoroscopic or electronic portal imaging devices (EPID). In the case of MV based images, marker detection can be problematic due to the significantly lower contrast between different materials in comparison to their kV-based counterparts. This work presents a fully automated algorithm capable of detecting implanted metallic markers in both kV and MV images with high consistency. Using prior CT information, the algorithm predefines the volumetric search space without manual region-of-interest (ROI) selection by the user. Depending on the template selected, both spherical and cylindrical markers can be detected. Multiple markers can be simultaneously tracked without indexing confusion. Phantom studies show detection success rates of 100% for both kV and MV image data. In addition, application of the algorithm to real patient image data results in successful detection of all implanted markers for MV images. Near real-time operational speeds of approximately 10 frames/sec for the detection of five markers in a 1024 x 768 image are accomplished using an ordinary PC workstation.

Combined kV and MV imaging for real-time tracking of implanted fiducial markers.

In the presence of intrafraction organ motion, target localization uncertainty can greatly hamper the advantage of highly conformal dose techniques such as intensity modulated radiation therapy (IMRT). To minimize the adverse dosimetric effect caused by tumor motion, a real-time knowledge of the tumor position is required throughout the beam delivery process. The recent integration of onboard kV diagnostic imaging together with MV electronic portal imaging devices on linear accelerators can allow for real-time three-dimensional (3D) tumor position monitoring during a treatment delivery. The aim of this study is to demonstrate a near real-time 3D internal fiducial tracking system based on the combined use of kV and MV imaging. A commercially available radiotherapy system equipped with both kV and MV imaging systems was used in this work. A hardware video frame grabber was used to capture both kV and MV video streams simultaneously through independent video channels at 30 frames per second. The fiducial locations were extracted from the kV and MV images using a software tool. The geometric tracking capabilities of the system were evaluated using a pelvic phantom with embedded fiducials placed on a moveable stage. The maximum tracking speed of the kV/MV system is approximately 9 Hz, which is primarily limited by the frame rate of the MV imager. The geometric accuracy of the system is found to be on the order of less than 1 mm in all three spatial dimensions. The technique requires minimal hardware modification and is potentially useful for image-guided radiation therapy systems.

Examination of geometric and dosimetric accuracies of gated step-and-shoot intensity modulated radiation therapy.

Due to the complicated technical nature of gated radiation therapy, electronic and mechanical limitations may affect the precision of delivery. The purpose of this study is to investigate the geometric and dosimetric accuracies of gated step-and-shoot intensity modulated radiation treatments (SS-IMRT). Unique segmental MLC plans are designed, which allow quantitative testing of the gating process. Both ungated and gated deliveries are investigated for different dose sizes, dose rates, and gating window times using a commercial treatment system (Varian Trilogy) together with a respiratory gating system [Varian Real-Time Position Management system]. Radiographic film measurements are used to study the geometric accuracy, where it is found that with both ungated and gated SS-IMRT deliveries the MLC leaf divergence away from planned is less than or equal to the MLC specified leaf tolerance value for all leafs (leaf tolerance being settable from 0.5-5 mm). Nevertheless, due to the MLC controller design, failure to define a specific leaf tolerance value suitable to the SS-IMRT plan can lead to undesired geometric effects, such as leaf motion of up to the maximum 5 mm leaf tolerance value occurring after the beam is turned on. In this case, gating may be advantageous over the ungated case, as it allows more time for the MLC to reach the intended leaf configuration. The dosimetric precision of gated SS-IMRT is investigated using ionization chamber methods. Compared with the ungated case, it is found that gating generally leads to increased dosimetric errors due to the interruption of the "overshoot phenomena." With gating the average timing deviation for intermediate segments is found to be 27 ms, compared to 18 ms for the ungated case. For a plan delivered at 600 MU/min this would correspond to an average segment dose error of approximately 0.27 MU and approximately 0.18 MU for gated and ungated deliveries, respectively. The maximum dosimetric errors for individual intermediate segments are found to deviate by up to approximately 0.64 MU from their planned value when delivered at 600 MU/min using gating, this compares to only approximately 0.32 MU for the ungated case.

Intersex conditions in children and adolescents: surgical, ethical, and legal considerations.

INTRODUCTION: Approximately one in 2000 children globally is born with an intersex condition. There is unfortunately a relative paucity of data on the choices and the surgical and psychosocial outcomes in patients who undergo genital surgery for intersex conditions and ambiguous genitalia, especially in developing countries. Specialists in these and other countries, where patient follow-up is generally poor, are faced with the daunting task of offering the appropriate medical and surgical management, in the absence of guidelines or recommendations. SURGICAL CONSIDERATIONS: A surgical procedure in these patients sometimes involves clitoral recession, reduction, vaginoplasty, and gonadectomy. The best surgical outcome is likely to be achieved with a multidisciplinary surgical team; however, the choice of surgery and appropriate timing remains controversial. Some authors have suggested delaying surgery until the child becomes competent to make his/her own decisions. LEGAL/ETHICAL CONSIDERATIONS: All procedures should conform to an ethical code of practice and be in the interest of the child. Exhaustive counseling of all parties and informed consent is of paramount importance, as is adherence to laws that protect the rights of the child as outlined in respective constitutions. RECOMMENDATIONS: Recommendations in this article, which have been put together from the combined input of three departments, are broad-based. They emphasize the need for extensive counseling, informed consent, adherence to ethical and legal norms, a multidisciplinary input and a shift away from a paternalistic approach.

True hermaphroditism in southern Africa: the clinical picture.

This is an 18-year (1985-2001) retrospective review of 85 patients with true hermaphroditism, with the aim of facilitating early recognition of this condition. Presentation of neonates and infants 6 months or younger, constituting 54% of this cohort, were different from the older children. The presentation, clinical features and investigative results of all patients diagnosed with true hermaphroditism at a single South African paediatric surgical unit were reviewed. This paper highlights the previously reported high incidence (51%) of this condition, as well as some of the unusual features of true hermaphroditism in this region. Diagnosis of true hermaphroditism requires a high index of suspicion for subtle anomalies of the genitalia. Although there were no pathognomonic clinical features, the true hermaphrodite presents as a patient of either gender with a congenital anomaly of the genitalia. The child is likely to have a normal male phallus, bifid labio-scrotal folds, a perineal hypospadias and in 53% of patients there was a palpable gonad. The method of investigation, together with the results and some of the management dilemmas associated with true hermaphroditism in a Third World population are presented.

Neonatal gastric perforation.

BACKGROUND: Gastric perforation in neonates is a catastrophe associated with high morbidity. Most are due to underlying primary pathology. OBJECTIVES: To review the management of gastric perforation in neonates in Kwa Zulu-Natal, South Africa. DESIGN: Retrospective study of consecutive complete data sets of neonates presenting with gastric perforation. SETTING: Department of Paediatric Surgery, Nelson R. Mandela School of Medicine, University of Natal, Durban, South Africa. SUBJECTS: Eight neonates treated for gastric perforation between January 1998 and April 2003. MAIN OUTCOME MEASURES: Morbidity and mortality. RESULTS: There was an equal number of males and females. Median birth weight was 2.0 kg with a range of 1.4 to 3.2 kg. Five of the eight neonates were premature. Primary pathologies were associated with perforation in seven of the eight neonates. Prematurity, low birth weight and pneumonia were contributing factors to the poor outcome. Sepsis was a complication in seven of the eight neonates leading to their death (88% mortality). CONCLUSION: Active perinatal management, early treatment of primary pathologies, and protection of the stomach against distension in neonates at risk are essential in the management of neonatal gastric perforation.

Minimizing surgery in complicated intussusceptions in the Third World.

When presentation is delayed, intussusceptions may be difficult to reduce using standard enema regimens. Our endeavour to minimize the need for surgery in an environment where failed reductions are common has led to the development of an aggressive, non-operative method of reducing intussusceptions. One hundred and six patients with intussusception were reviewed with the aim of evaluating a new method of reducing intussusceptions suited to our Third World environment. In our cohort, delayed presentation was common, with 32% of patients presenting more than 48 h after the onset of the intussusception. On clinical grounds alone, 41% of patients required a primary laparotomy. Standard barium and air reductions for intussusception were rarely successful under these conditions i.e. 13% and 22%, respectively. By using an air enema under general anaesthesia in the operating theatre, the reduction rate has improved to 53%. This approach is suggested as a last attempt at reducing an intussusception prior to laparotomy following failed standard enema reduction, and as the first line of management in the attempted reduction in the patient with delayed presentation without symptoms of peritonitis.

Gastro-intestinal tract perforation in neonates.

BACKGROUND: Gastro-intestinal tract (GIT) perforation in neonates is a serious problem associated with high mortality due to resulting sepsis. Co-morbid factors, eg. prematurity, respiratory problems, low birth weight, and nutritional factors, negatively affect the outcome. OBJECTIVES: To review the management outcome of gastro-intestinal tract perforation in neonates in KwaZulu-Natal and identify factors that require attention for better survival of neonates with GIT perforation. DESIGN: Retrospective study of consecutive complete data sets of patients presenting with a diagnosis of GIT perforation. SETTING: Department of Paediatric Surgery, Nelson R. Mandela School of Medicine, University of Natal, Durban, South Africa. SUBJECTS: Fifty four neonates treated for gastro-intestinal tract perforation between January 1998 and January 2003. MAIN OUTCOME MEASURES: Morbidity as determined by complications and mortality. RESULTS: More males (69%) were affected than females (31%). The median birth weight was 2.3 kg and median age at presentation was four days. Eighty nine percent were referred from peripheral hospitals. Abdominal distension was the leading symptom and sign (74%). Co-morbid factors were present in 89%, with prematurity as the leading factor (52%). Necrotising enterocolitis (NEC) was the main cause of perforation (33%) and the terminal ileum was the most common site. Most (56%) were treated by excision and primary repair of perforations. Sepsis was the leading complication (44%) and major cause of death (72%). Mortality was highest (56%) in perforations due to other primary pathology followed by NEC (53%). Overall mortality was 46%. CONCLUSION: It is essential to prevent secondary perforations by early recognition and management of primary pathology. Management of pneumoperitoneum in neonates with respiratory difficulties should be included in resuscitation before transfer. Rectal temperature monitoring and herbal enemas should be strongly discouraged.

HIV-positive African children with rectal fistulae.

BACKGROUND/PURPOSE: Human immunodeficiency virus (HIV) disease is an increasingly common infection in children in sub-Sahara Africa. Rectal fistulation is one such condition with which these patients present to the paediatric surgeon. This appeared to be an exclusively female condition until 2 male patients were treated recently. METHODS: A 6-year (1996 through 2001) retrospective study found 39 children presenting with HIV-related rectal fistulae. Thirty-seven girls were seen with rectovaginal fistulae (RVF), and there is supportive documentation showing an increase in this condition throughout Southern Africa. Until now, boys have not been described with this condition. The author presents 2 boys who complete this spectrum of HIV-related acquired rectal fistulae. RESULTS: All patients were found to have rectal fistula at the dentate line. In girls it varied in size from pin-point to 5 mm diameter, tracking anteriorly into the vagina. When closure of the fistula was attempted, it broke down. The 2 boys had a large fistula, which tracked to the prostatic urethra on the right of the verumontanum. The first patient underwent a successful repair. The second patient had a "Y"-shaped fistula based at the dentate line, with the second limb passing into the bladder. The parents refused further treatment and took the child home. CONCLUSIONS: HIV disease affects increasing numbers of children. A spectrum of rectal fistulae now has been seen in both girls and boys. These acquired rectal fistulae arise at the dentate line in both genders. Girls with these fistulae are seen more commonly, presenting with RVF. The closure of a fistula has only been successful in one boy.

Rectal gastric heterotopia in infancy.

Heterotopic gastric mucosa is rare in children with most cases presenting in association with Meckel's diverticulum. The authors present a 2-year-old boy with gastric heterotopia of the anorectum, who presented with painless, intermittent rectal bleeding.

Management of the African child with true hermaphroditism.

BACKGROUND/PURPOSE: A disproportionally high incidence of true hermaphroditism is seen among the South African black people, constituting 51% of children in local study on all intersex types. These patients were different from the commonly reported patients with true hermaphroditism in that the common gonad was a mixed type of ovotestis, making the management of such patients problematic. The aim of this study was to establish a protocol for the management for children with true hermaphroditism in Southern Africa. METHODS: Seventy-one children, over a 16-year period, were diagnosed with true hermaphroditism. After a decision on the child gender status, part of the management consisted of excision of all discordant and ovotesticular gonadal tissue. The histology of these gonads was then compared with the initial biopsy results. RESULTS: The histology of the initial gonadal biopsies showed that 55% of all gonads were ovotestes, 26% were ovaries, and 19% testes. Thirty-five patients had 44 gonads excised. Comparing the 2 sets of histology showed that the initial histology of the discordant gonads was insufficient to show all the ovotesticular tissue in 22% of gonads. Initial biopsies that showed testicular tissue only were misdiagnosed in 82% of cases. CONCLUSION: It is suggested that, in Southern African true hermaphrodites, all ovotestes, discordant gonads, and all gonads that show only testicular tissue be excised as part of the initial corrective management.

Lymph node biopsies in HIV-infected and non-infected children with persistent lung disease.

OBJECTIVE: The diagnosis of opportunistic infections in children with persistent lung disease (PLD) who are infected with the human immunodeficiency virus (HIV) is difficult to establish, especially in resource-poor countries. Lymphadenopathy is a frequent associated clinical finding among these children. We evaluated the usefulness of excision lymph node biopsies in determining an aetiological diagnosis in HIV-infected and non-infected children with PLD. METHOD: Forty-five children with PLD and significant lymphadenopathy were subjected to lymph node biopsy. Of these, 27 were HIV-infected. All subjects had excision biopsies; 39 (86.7%) of these cases also underwent fine needle aspiration cytodiagnosis (FNAC) and trucut needle biopsies. RESULTS: Tuberculosis was identified as the final diagnosis in 11 (40.7%) and 12 (66.7%) HIV-infected and noninfected children, respectively. Ancillary investigations (Mantoux, gastric washings) suggested a diagnosis of tuberculosis in eight (72.7%) and eight (66.7%) of the final diagnoses of tuberculosis among HIV-infected and non-infected children, respectively. Lymph node biopsies identified a further three (27.3%) and four (33.3%) more cases of tuberculosis as compared to ancillary investigations among HIV-infected and non-infected groups, respectively. Results of FNAC and trucut biopsy showed good correlation with excision biopsy: 96.4% and 97.4%, respectively. However, adequate samples were obtained in only 23 of 39 FNAC and 33 of 39 trucut biopsies. CONCLUSION: Excision lymph node biopsies form a useful adjunct investigation in children with PLD and generalised lymphadenopathy. The most common disease identified among HIV-infected and non-infected children in Durban, South Africa, is tuberculosis. FNAC and trucut biopsies may also be useful in the evaluation of lymphadenopathy when appropriate specimens are obtained.

Surgical lessons learned from the Shigella dysenteriae type I epidemic.

An epidemic of Shigella dysenteriae type I is spreading through Africa. It is a particularly infectious and virulent form of dysentery which can cause clinical confusion with other endemic diseases and may present to the surgeon as a result of its complications. A total of 140 children with Shigella dysenteriae type I presented to the paediatricians at King Edward VIII Hospital in 1995; 35 were referred to the surgeons because of abdominal tenderness, distension, peritonitis or perforation. Ten children underwent laparotomy--four for peritonitis and six for perforation. Of the four children with peritonitis, three had transmural colitis. Therefore laparotomy was only performed for objective evidence of perforation. Of the subsequent non-operated group with the clinical features of peritonitis, none developed further surgical problems in the acute phase and none died. It is suggested that surgery in the acute phase should be avoided unless there is evidence of perforation.

Membranous atresia of the body of the stomach.

Pyloric and prepyloric webs and atresias have long been recognized and frequently reported; however, membranous atresia of the body of the stomach has not been reported previously. The authors report such a case.

Intralingual cysts of foregut origin.

Intralingual cysts lined by epithelium of foregut origin are rarely reported. We present 16 patients seen over an 8-year period (1983 to 1990) with such lesions. Respiratory and squamous epithelium were the most commonly encountered. These unusual cysts generally presented in the neonatal period with feeding difficulty. Two children had multiple cysts. Histological varieties of epithelia are described and the clinical features are discussed. From our experience we conclude that these cysts are adequately treated by complete surgical excision through a sagittal glossal split. This can be safely done electively in the neonatal period. Cyst aspiration was found to be inadequate definitive treatment.

Infantile hypertrophic pyloric stenosis in a Third-World environment.

Sixty-two consecutive patients with hypertrophic pyloric stenosis, presenting over a 6-year period, are reported. The sequelae of late presentation and diagnostic delay are outlined. Clinical diagnosis may be difficult. Barium meal examination has proved a more useful single investigation than ultrasonography, although these methods of investigation are complementary. Management difficulties include severe biochemical derangement, correction of which delays surgery. In black communities pyloric stenosis remains a rare condition and heightened clinical awareness remains the most important means of achieving earlier diagnosis.