Since ancient times, it has been recognized that the testis needs to be fully descended in the scrotum for normal functioning. Indeed, the testis derives its name from the Latin word “witness,” following the custom in Roman times to hold the testicles when taking an oath. Hence, one of the primary concerns of surgeons has been the development of surgical procedures to place an undescended testis into the scrotum. In recent years there have been rapid changes in attitudes to long-term outcomes: not that long ago, success of surgery was measured by such crude criteria as cosmetic result or survival, which could be determined immediately. However, now the profession and the community require and expect a much higher standard, such that at present the yardstick for success in the management of undescended testes is normal fertility and a low risk of malignancy in adult life. Community attitudes, and knowledge about long-term outcomes, are changing rapidly, as evidenced by the fact that standard texts only 25 years ago did not contain any significant information about long-term malignancy risks.

Etiology of the undescended testis

Most undescended testes are probably caused by abnormal migration of the gubernaculum during the inguinoscrotal phase of testicular descent. Testicular descent normally begins at about 10 weeks of gestation, shortly after the onset of sexual differentiation. Two morphological steps in descent can be identified: initial relative movement of the testis (compared with the ovary) from the urogenital ridge to the inguinal region, known as transabdominal descent; and migration from the inguinal canal to the scrotum, known as inguinoscrotal descent.

Introduction

Despite recent advances in critical care, improved ventilatory support strategies, and ready access to extracorporeal life support (ECLS), the management of patients with congenital diaphragmatic hernia (CDH) continues to be a vexing problem for the clinician. Improvements in treatment strategies have been associated with an increase in overall survival probability for CDH patients in recent years; however, there has also been an unanticipated increase in morbidity in these survivors. The objective of this chapter is to briefly review the history and pathophysiology of CDH, as well as current management strategies, but most importantly to summarize current data related to the long-term outcome, morbidity, and recommended follow-up of these complex patients.

Etiology and embryology

The incidence of CDH is between 1 in 2000 and 5000 live births, yielding approximately 1000 affected infants per year in the USA. It has been suggested that the in utero mortality rate is as high as 30%, although this is probably an overestimate. Over 90% of the defects are posteriolateral and 85% of these are left sided. The etiology of CDH is still not known. Exposure to teratogens such as insecticides, phenmetrazine, quinine, nitrofen and vitamin A deficiency has been implicated in the development of CDH. Although CDH has been reported to be associated with trisomies 18, 21 and 22, the genetic contribution to the lesion is likely to be quite complex. Consequently, sporadic occurrence is most common.

Introduction

Esophageal achalasia is an uncommon pediatric surgical condition characterized by abnormality of, specifically failure of, the distal esophagus to relax with swallowing, associated with abnormal esophageal motility. The initial case description of achalasia was reported in 1674 by Sir Thomas Willis who treated the patient with esophageal bougienage using a whalebone dilator. The incidence of achalasia in children under 15 years of age has been reported at between 0.02 and 0.31 per 100 000 in Ireland and Britain. Approximately one-fifth of children with achalasia will present during infancy with symptoms of regurgitation, cough, aspiration, or failure to thrive; however, definitive diagnosis and subsequent treatment is rarely accomplished in infancy as these symptoms may be confused with feeding difficulty or gastroesophageal reflux. Older children and adolescents with achalasia typically present with dysphagia, substernal chest pain, regurgitation and weight loss.

Treatment of esophageal achalasia is aimed at resolving the clinical symptoms of dysphagia, odynophagia, and regurgitation. This is accomplished by reducing the resting lower esophageal sphincter (LES) pressure by either medical or surgical means. There is no currently available treatment that directly reverses the pathophysiologic mechanism responsible for achalasia in children. As such, all treatment modalities are aimed at symptom control by reducing the effective LES resting pressure. Rendering the LES incompetent allows the esophagus to empty more readily via gravity and residual esophageal motility. Improved esophageal emptying should alleviate or greatly reduce symptoms related to distal esophageal obstruction.

What is a stoma?

A stoma is a surgically created opening of bowel or urinary tract to an external surface.

What different types of stoma do you know?

• Loop colostomy or ileostomy.

• End colostomy or ileostomy.

• Urostomy to divert urine used after a cystectomy to collect urine from the ureters.

• Gastrostomy or jejunostomy used for feeding patients with functioning gut that are unable to take food orally.

• Caecostomy that is created by intubating the caecum with a Foley catheter usually through the appendicular stump after performing an appendicectomy.

Where should the stoma be sited?

It is necessary to plan the exact site of stoma pre-operatively by involving the patient. This has been shown to improve outcome. The optimal site of stoma placement should be marked preoperatively. This should be on flat skin, away from scars and avoiding bony prominences and the umbilicus. The positioning of the patients clothing should also be taken into account.

There is usually a stoma therapist on site for this.

Where are stomas normally sited?

The usual site is halfway between the umbilicus and the anterior superior iliac spine in the iliac fossa. Ileostomies are usually sited on the right and colostomies on the left.

In what circumstances are temporary stomas used?

Temporary loop stomas are used to allow diversion of faeculant material away from a distal part of the bowel to allow healing of an anastomosis or fistula. Common types include loop ileostomies following anterior resection.

What are the indications for a carotid endarterectomy?

Carotid endarterectomy is indicated in symptomatic patients with symptoms suggestive of ischaemia in the carotid territory (TIA or Amaurosis Fugax) who have a major degree of carotid stenosis (between 70% and 99%). This is based on results from the European Carotid Surgery Trial (ECST) and the North American Symptomatic Carotid Endarterectomy Trial (NASCET). Patients who have symptoms suggesting insufficiency of the vertebro-basilar circulation are not included.

There is currently a randomised clinical trial, which is looking at asymptomatic patients with carotid stenosis (the Asymptomatic Carotid Surgery Trial).

What are the clinical presentations of ischaemia of the carotid and the vertebro-basilar circulations?

• Carotid: contralateral hemiparesis, hemianopia, hemisensory disturbances as well as dysphasia (dominant hemisphere) or visuospatial apraxias.

• Vertebrobasilar: Vertigo, diplopia, dysphagia, dysphonia, nausea, vomiting or ataxia

What pre-operative measures should be taken?

• To establish the diagnosis and grade the stenosis, duplex scanning is the investigation of choice in most centres. Patients were previously investigated using IADSA; but this itself carries a 12% risk of stroke. Some centres are now using magnetic resonance angiography (MRA) as an alternative. The patient will also require a CT scan of the brain to establish pre-operative infarcted areas.

• Anaesthetic assessment and informed consent.

• The patient should have an intravenous line and an arterial line in situ.

Short- and long-term outcomes of children with malignancies have improved considerably during the last four decades. According to the review by Ries et al. (1991), the survival rate for cancer cases diagnosed before 15 years of age has improved from around 50% in the early 1970s to 75% a decade later. This favorable trend has been observed not only in hematologic malignancies but also in many solid tumors such as Wilms' tumor and hepatoblastoma. This progress is due to many factors including advances in medical expertise, surgical techniques, and most importantly innovation and refinement of adjuvant chemotherapy. With growing numbers of surviving patients, the long-term side effects of chemotherapy are now viewed with increasing concern and may lead us to reconsider therapeutic strategies in the future, possibly promoting further integration of genetic and tumor markers into tailored management protocols.

Children with cancers represent a unique population for studying genetic and environmental mechanisms of cancer etiology, and also genetic factors or tumor markers associated with survival. Identifying mechanisms and/or markers encourages the development of prevention, screening or pre-emptive treatment strategies. However, less is known about children's cancers compared to adults and additional research is necessary; the relatively small number of children with cancer and the lack of co-ordinated studies has led, for too long, to fragmentation and duplication of research effort. Large collaborative trials in pediatric cancer research are a priority.

Introduction: historical aspects

Perinatal mortality

Perhaps no other medical subspecialty has achieved such a dramatic improvement in survival as that documented in neonatal medicine over the last 40 years. Since the 1960s the survival rate for infants born weighing less than 1500 g (very low birthweight, VLBW) has increased from 45% to over 80%. For the small group born weighing less than 1 kg (extremely low birthweight, ELBW) the increase in survival has been from 20% to almost 70%. These changes have occurred against a background of improving perinatal, infant and childhood mortality in the United Kingdom and elsewhere, although it remains true that a VLBW infant is 100 times more likely to be stillborn or die during the first month of life than an infant born weighing 3000 g or more (Table 4.1). The UK definition of a stillbirth was changed to include all fetuses delivered dead after 24 complete weeks of pregnancy in October 1992. This caused a step up of about 1 per 1000 in the UK perinatal mortality rate, which at 8.0 per 1000 total births remains similar to that in other European countries and the USA (Fig. 4.1). Whilst prematurity remains the leading cause of perinatal and neonatal death, significant contributions continue to be made from perinatal asphyxia, sepsis and congenital malformations. Group B streptococcal infection and chorioamnionitis, where the organism is rarely isolated, are important causes of fetal and neonatal deaths.

Introduction

The treatment of hypospadias has a long and colorful history dating back to AD 100–200, when Heliodorand Antyl is credited with the first surgical management. Since that time, the study of hypospadias has evolved into a subspecialty within pediatric urology, hypospadiology.

In Western civilization the incidence of hypospadias is reported to be increasing. A leading hypothesis which is under investigation is maternal exposure to environmental pollutants or endocrine disruptors.

Modern techniques have evolved from the myriad of operations described by the pioneers of hypospadias surgery. An understanding of these techniques is germane to present-day practice. We have now come full circle to accept the multistep operations for severe hypospadias and redo surgery which historically had been the procedure of choice. It is no longer taboo to consider a two-stage approach as opposed to repairing all hypospadias with a single operation.

Historically, the first stage of hypospadias surgery consisted of penile straightening. This was followed by a second-stage urethroplasty using various techniques such as ventral skin tubes (Thiersch-Duplay, flip flaps, Mathieu, Ombredanne and Beck) or urethral mobilization (Beck–Hacker). Alternatively, Dennis Browne buried a strip of epithelium for subsequent tubularization. Blair and Byars championed the vertical split of the dorsal hood rotated to the ventrum and advanced onto a split glans for subsequent tubularization. This was the most popular repair and is similar to the two-stage approach advocated today.

Until the 1980s, physicians had few options for parents of fetuses with congenital malformations; essentially, these were to terminate the pregnancy or continue and possibly modify the timing and/or method of delivery. Rapid advances in prenatal imaging and diagnosis over the last 20 years, coupled with increased understanding of the natural history of many fetal anomalies, has led to the identification of the fetus as a patient and to the burgeoning field of fetal surgery. An increasing number of selected fetal anomalies are amenable to prenatal intervention (Table 73.1), yet it has been difficult to demonstrate efficacy with regard to improved outcomes. With the exception of myelomeningocele and twin–twin transfusion syndrome, anomalies amenable to fetal repair yield only 2–5 cases per year at the busiest fetal treatment centers. Thus, the dearth of patient volume has dictated that outcome assessment be done over a long time often using historical controls. Also, anomalies in which no prenatal treatment reliably results in fetal death (e.g., lung lesion producing hydrops) cannot be ethically “randomized” for prospective study. Randomized prospective trials have been done for several “high” volume anomalies. To date, there are two completed randomized trials for congenital diaphragmatic hernia, and there are ongoing prospective randomized trials for myelomeningocele and twin–twin transfusion syndrome, each of which is illustrated below.

Risks and benefits

Assessing risks and benefits in fetal surgery is a complex task. Both the fetus and the mother must be considered.

What is Dupuytren's disease?

This is a nodular thickening of the palmar aponeurosis leading to flexion contractures of the fingers at the metacarpophalangeal joint (MCPJ) and/or proximal interphalangeal joint (PIPJ) of the fingers. The ring and little fingers are most commonly affected. The condition has a higher prevalence in people from northern European descent.

What conditions are associated with Dupuytren's disease?

This condition is mainly idiopathic and familial (autosomal dominant), however there is a high incidence in epileptics on phenytoin and is also known to be associated with diabetes, alcoholic cirrhosis, AIDS and pulmonary tuberculosis.

What other associated clinical manifestations of Dupuytren's disease do you know?

• Thickenings on the dorsum of the fingers (Garrod's pads)

• Thickening of the plantar fascia of the feet

• Thickening and fibrosis of the corpous cavernosum of the penis (Peyronie's disease)

What are the surgical options in treating the condition?

• Fasciotomy: Release of the contracture without excising the thickened bands.

• Fasciectomy: Excision of all diseased bands contributing to the deformity.

• Dermatofasciectomy: As above with the addition of a full-thickness skin graft to an excised skin defect.

• Amputation: May be necessary in severe recurrent disease.

Briefly discuss how you would perform a Dupuytren's excision

Position This is supine with the affected arm on a supporting table. The hand and forearm are then prepared and draped. The arm is exsanguinated and a tourniquet is applied.

Incision: A zigzag or Brunner incision is made from midpalm proximal to the contracture and into the finger. Skin flaps are then carefully raised.

Introduction

Visceral transplantation is the accepted standard of care for patients in end-stage organ failure. It is well established in kidney, liver, and cardiac failure. Recently pancreas and lung transplantation have also become routine, although infrequently performed in the pediatric population. Although one of the first organs to be transplanted as an en-bloc procedure with the liver, the intestine has been a notoriously difficult organ to successfully transplant. Early results were universally poor, and it wasn't until the development and use of tacrolimus in 1990 that the procedure could be performed with reasonable expectation of success. Even so, initial outcomes were marginal with many programs performing only a handful of cases before terminating their experience. A few centers persevered, and with ongoing experience and continued development have greatly advanced the field. It has evolved in every aspect, technically and medically, but this is true in particular with respect to advances in immunosuppression protocols. Currently, the outcomes are approaching that achieved in other types of organ transplantation, and it has become the accepted standard of care for patients with irreversible intestinal failure who are failing parenteral nutrition.

Historical perspective

Clinical organ transplantation dates back to 1960 with the first successful kidney transplantation. Successes followed in liver, pancreas, heart and lung. On the contrary, the early experience with intestinal transplantation, either alone or with other organ combinations, both in humans and research animals, was universally poor. Even into the 1980s, successful human intestinal transplantation was rare and mostly short lived.

Introduction

For more than 30 years, necrotizing enterocolitis (NEC) has been the most common surgical emergency in the neonatal intensive care unit (NICU). Despite decades of clinical advances and research, the management of NEC continues to pose a significant challenge to the pediatric surgeon. Currently, NEC is the major cause of death for all neonates undergoing surgery with a surgical mortality rate of 20–60%. The mortality from this disease is greater than that from all of the congenital anomalies of the gastrointestinal tract combined. Infants who do survive may be plagued by the chronic condition of short-bowel syndrome, with its associated complications of total parenteral nutrition and the possible need for liver and/or intestinal transplantation. Additionally, infants surviving necrotizing enterocolitis may have significant long-term gastrointestinal, growth and neurodevelopmental sequelae.

Epidemiology

Necrotizing enterocolitis affects 1–3 in 1000 live births and up to 8% of NICU admissions. In 2001, NEC was the tenth leading cause of neonatal deaths. As advances in neonatology and the modern intensive care unit have led to the increased survival of smaller and younger infants, the number of babies at risk for NEC and, therefore, the incidence has increased.

During the last 20 years, the infant mortality rate attributable to NEC increased from an average of 11.5 per 100000 live births in the early 1980s to an average of 12.3 deaths per 100 000 live births during 1990–1992.

Introduction and historical aspects

Hirschsprung's disease (HD) is characterized by an absence of ganglion cells in the nerve plexuses of the distal large bowel. The lack of ganglion cells produces a functional obstruction and leads to dilatation of the bowel that is proximal to the aganglionic zone. The commonly quoted incidence of HD is 1:5000. The classic description of HD was first presented in detail by a Danish pediatrician, Harald Hirschsprung in 1886. The absence of ganglion cells in the distal large bowel was first reported by Tittel, but the crucial role of this finding as the primary pathology was not appreciated until the late 1940s. In 1948 the first successful operation for HD was performed by Swenson and Bill. This was a rectosigmoidectomy and later became known as the Swenson operation.

The functional obstruction caused by a lack of enteric ganglion cells in the distal bowel results in severe constipation and failure to thrive and may be fatal because of enterocolitis. The exact embryologic mechanism of the development of HD is controversial but the most favored theory is defective neuronal migration. Several genes (RET, GDNF, EDN3, ETRB) have been shown to cause HD both in humans and animal models. However, single gene defects explain only a minority of HD cases; in the majority, the cause of HD is probably multifactorial and multigenic.

In its classic form HD is restricted to the rectosigmoid region. Classic HD comprises 75–80% of all patients.

Introduction

There is a considerable body of literature dedicated to adult stone disease but very little written about pediatric stone disease. While nephrolithiasis is less prevalent in children, it can be associated with significant morbidity. This chapter will touch upon the pathophysiology, the surgical management, and the current state of evidence base data, particularly long-term outcomes of pediatric stone disease.

Epidemiology

Childhood urolithiasis varies widely around the world both in the composition and location of the stones. For example, it is endemic in the Far East and Turkey where the stones are primarily ammonium uric acid stones. In European countries, the majority of stones found in children are composed of struvite and organic matrix that are frequently the result of urinary tract infections from bacteria containing urease. In the USA, infection-related stones are rare. Stone composition in the USA is mostly calcium-based.

In North America and other developed countries, nephrolithiasis in children has remained stable over the last 20 years. In Europe and the United States, the incidence of stone disease is similar, ranging from 0.13 to 1.0 cases per 1000 hospital admissions. The disease always varies geographically within countries. For example, the incidence tends to be higher in the warm climates of the southeastern United States and California. The incidence is also higher in areas with immigrants from countries where stone disease is endemic. The ratio of boys to girls affected by stone disease is 1.2–1.7:1 in the USA and 1.9–3:1 in the UK.

Acute appendicitis is the most common surgical emergency in childhood. Appendicitis may present at any age, although it is uncommon in preschool children. Approximately one-third of children with acute appendicitis have perforation by the time of operation. Despite improved fluid resuscitation and better antibiotics, appendicitis in children, especially in preschool children, is still associated with significant morbidity.

Historical aspects

Early reports of appendicitis were usually based on autopsy findings. In 1736, Amyand reported an operation on a boy with a perforated appendix in a scrotal hernia. Several important contributions toward the diagnosis and treatment of appendicitis were made during the 1880s. The term appendicitis was first used in 1886 by the Harvard pathologist Reginald Fitz, who provided an extraordinary description of the signs and symptoms of both acute and perforated appendicitis and, in addition, appreciated the role of luminal obstruction in the pathogenesis of appendicitis. He stressed the importance of early diagnosis and treatment by laparotomy. Although drainage of an appendiceal abscess had been performed earlier, Mortin, in 1887, did the first successful appendectomy for perforated appendicitis. In 1889, McBurney published his classical description of the typical tenderness in the right lower quadrant and recommended early operation. Although modern antibiotics and intravenous administration of fluids have improved the outcome for children with appendicitis, the basic principles of early diagnosis and appendectomy remain the same as described by McBurney over 100 years ago.

Introduction and historical aspects

William Durston is credited with providing the earliest description of esophageal atresia (EA) when he observed its occurrence in one of conjoined twins in 1670. In 1888, Charles Steele was the first to attempt surgical correction of EA. Although the child died, it gave an indication that the abnormality was potentially treatable. It was not until 1939 that Ladd and Leven independently obtained the first long-term survivors with EA. Two years later Cameron Haight successfully achieved a primary esophageal anastomosis.

Before 1939, esophageal atresia was considered a uniformly fatal condition. Nowadays, all patients with EA are expected to survive irrespective of their gestation, provided there are no major concomitant congenital abnormalities. There has been a steady decline in the overall mortality from EA in most institutions, but there remains a significant group of patients who will die as a result of their associated abnormalities: the prognosis for many of these infants is considered so poor that no active treatment to correct the atresia is justified.

The eventual quality of life is good in the majority of survivors. Despite this, many have ongoing minor but troublesome symptoms, many of which relate to esophageal function (Table 15a.1). In particular, there are concerns about the ultimate risk of malignancy in the esophagus exposed to persisting gastroesophageal reflux. This chapters outlines how the early management of esophageal atresia influences long term outcome, and identifies some of the persistent difficulties that adults with repaired EA may suffer.