Lissauer Paediatrics 5th Ed Gastroenterology Chapter PDF

Chapter template: 14. Gastroenterology p234 (In “Illustrated Textbook of Paediatrics, 5th Edition. Editors: Tom Lissauer Will Carroll. Elsevier. Published 2017”) READ THIS COMPLETELY BEFORE reading the chapter. The content of this chapter will be assessed using Type A MCQ (i.e. Choosing ONE correct...

Chapter template: 14. Gastroenterology p234 (In “Illustrated Textbook of Paediatrics, 5th Edition. Editors: Tom Lissauer Will Carroll. Elsevier. Published 2017”) READ THIS COMPLETELY BEFORE reading the chapter. The content of this chapter will be assessed using Type A MCQ (i.e. Choosing ONE correct answer only). Learning objectives. 1. Vomiting Learn about the i. Causes following conditions: ii. ‘Red Flag’ features of vomiting iii. Gastro-oesophageal reflux iv. Pyloric stenosis 2. Crying i. Infant colic 3. Acute abdominal pain i. Causes ii. Acute appendicitis iii. Intussusception iv. Meckel diverticulum v. Malrotation/ Volvulus 4. Recurrent abdominal pain i. Causes ii. Abdominal migraine iii. IBS iv. Peptic ulcer/gastritis/functional dyspepsia v. Eosinophilic oesophagitis 5. Gastroenteritis i. Causes and differential diagnosis ii. Assessment and management of dehydration 6. Malabsorption i. Coeliac disease ii. Other causes of nutrient malabsorption 7. Chronic non-specific diarrhoea 8. Inflammatory bowel disease i. Crohn disease ii. Ulcerative colitis 9. Constipation i. Features of constipation ii. ‘Red Flag’ features of constipation iii. Hirschsprung disease Other relevant topics GIT disorders in the Neonatal Medicine (See Chapter 11); Liver covered elsewhere in Disorders (Chapter 21) this textbook Gaps or deficiencies in Causes and approach to the child with either: (i) persistent this chapter. Additional diarrhoea (defined as diarrhoea persisting for more than fourteen material that you will days) or (ii) chronic gastroenteritis (defined as diarrhoea need to cover. persisting for more than four weeks) is not discussed in this Chapter. The UpToDate© chapters referenced below provide much more detail on definitions, causes, approaches to the investigations, and treatment guidelines. You should read these chapters when you are managing a child with persistent or chronic diarrhoea – but these are too detailed and lengthy for inclusion into the basic reading package. See attached table from UpToDate©for list of causes of chronic diarrhoea – do NOT memorise this list* but make a list of the main headings in the table. Any child with chronic gastroenteritis and co-existing malnutrition should be regarded as an “emergency” and urgent referral is required. Management of these cases is usually under the supervision of a paediatrician. UpToDate© chapters: “Persistent diarrhea in children in resource-limited countries” by Moore. Topic 5878 Version 18.0 [accessed 26 Apr 2020] “Overview of the causes of chronic diarrhea in children in resource-rich countries” by Kellermayer and Shulman. Topic 5877 Version 29.0 [accessed 26 Apr 2020] Refer to CHAPTER 2: ALIMENTARY TRACT in the 2017 STG and EML for SA (Hospital Level Paediatrics) for details about management in South African state hospitals. SA setting: Some specialised treatments and investigations (e.g. gastroscopy and colonoscopy; pH monitoring) is not readily available in low- resourced settings – but you should know about these investigations. General comments Learn the clinical features and presentations of the above- mentioned conditions well – make your own summaries to help you. The specific management (i.e. investigations and treatment) will vary from centre to centre in South Africa, but you should know about the broad management principles. Read the sections marked as “Informative Reading”. Although this material will not be tested in exams, it will help you understand the core material. Gene names and locations, pathophysiological mechanisms, and prevalence and incidence rates/numbers will NOT be tested in exams. The following causes of chronic gastroenteritis is taken from UpToDate© “Overview of the causes of chronic diarrhea in children in resource-rich countries” by Kellermayer and Shulman. Topic 5877 Version 29.0 [accessed 26 Apr 2020] Table continued:  14 Gastroenterology Vomiting 234 Malabsorption 249 Crying 237 Chronic non-specific diarrhoea 251 Acute abdominal pain 238 Inflammatory bowel disease 252 Recurrent abdominal pain 243 Constipation 253 Gastroenteritis 244 Features of gastrointestinal disorders in children are: Vomiting vomiting, abdominal pain and diarrhoea are common and usually transient; serious causes are Posseting and regurgitation are terms used to describe uncommon but important to identify the non-forceful return of milk, but differ in degree. Useful worldwide, gastroenteritis is responsible for Posseting describes the small amounts of milk that definitions 530 000 deaths per year, one of the most often accompany the return of swallowed air (wind), common causes of death in children under whereas regurgitation describes larger, more frequent 5 years of age losses. Posseting occurs in nearly all babies from time the number of children and adolescents to time, whereas regurgitation may indicate the pres- developing inflammatory bowel disease is ence of more significant gastro-oesophageal reflux. increasing Vomiting is the forceful ejection of gastric contents. in contrast to adults, bowel cancer is extremely It is a common problem in infancy and childhood (Fig. rare. 14.1 and Box 14.1). Box 14.1 ‘Red flag’ clinical features in the vomiting child Bile-stained vomit Intestinal obstruction [see Ch. 11 (Neonatal medicine)] Haematemesis Oesophagitis, peptic ulceration, oral/nasal bleeding, and oesophageal variceal bleeding Projectile vomiting, in first few weeks of life Pyloric stenosis Vomiting at the end of paroxysmal coughing Whooping cough (pertussis) Abdominal tenderness/abdominal pain on Surgical abdomen movement Abdominal distension Intestinal obstruction, including strangulated inguinal hernia Hepatosplenomegaly Chronic liver disease, inborn error of metabolism Blood in the stool Intussusception, bacterial gastroenteritis Severe dehydration, shock Severe gastroenteritis, systemic infection (urinary tract infection, meningitis), diabetic ketoacidosis Bulging fontanelle or seizures Raised intracranial pressure Faltering growth Gastro-oesophageal reflux disease, coeliac disease and other chronic gastrointestinal conditions  Useful approach classified by Causes of vomiting age; learn the Preschool School age and main headings Infants children adolescents (in bold in the yellow blocks) Gastro-oesophageal reflux Gastroenteritis Gastroenteritis Feeding problems Infection: Infection – including pyelonephritis, Gastroenterology Infection: Respiratory tract/otitis septicaemia, meningitis Gastroenteritis media Peptic ulceration and H. pylori infection Respiratory tract/otitis Urinary tract Appendicitis media Meningitis Migraine Whooping cough Whooping cough (pertussis) Raised intracranial pressure (pertussis) Appendicitis Coeliac disease Urinary tract Intestinal obstruction: Renal failure Meningitis Intussusception Diabetic ketoacidosis Food allergy and food intolerance Malrotation Alcohol/drug ingestion or medications Eosinophilic oesophagitis Volvulus Cyclical vomiting syndrome Intestinal obstruction: Adhesions Bulimia/anorexia nervosa Plyoric stenosis Foreign body – bezoar Pregnancy Atresia – duodenal, Raised intracranial pressure Torsion of the testis other sites Coeliac disease Intussusception Renal failure Malrotation Inborn errors of metabolism Volvulus Torsion of the testis Duplication cysts Strangulated inguinal hernia Hirschsprung disease Inborn errors of metabolism Congenital adrenal hyperplasia Renal failure Figure 14.1 Causes of regurgitation/vomiting. It is usually benign and is often caused by feeding intestinal obstruction, the more proximal the obstruc- disorders or mild gastro-oesophageal reflux or tion, the more prominent the vomiting and the sooner gastro­enteritis. Potentially serious disorders need to it becomes bile stained (unless the obstruction is proxi- be excluded if the vomiting is bilious or prolonged, mal to the ampulla of Vater). Intestinal obstruction is or if the child is systemically unwell or has faltering associated with abdominal distension, more marked in growth. In infants, vomiting may be associated with distal obstruction. ‘Red flag’ clinical features suggest- infection outside the gastrointestinal tract, especially ing significant organic pathology are listed in Box 14.1. in the urinary tract and central nervous system. In Gastro-oesophageal reflux Summary Gastro-oesophageal reflux is the involuntary passage Vomiting in infants of gastric contents into the oesophagus. It is extremely Common chronic cause is gastro-oesophageal common in infancy. It is caused by inappropriate reflux. relaxation of the lower oesophageal sphincter as a result of functional immaturity. A predominantly fluid Feed volumes should be calculated as diet, a mainly horizontal posture and a short intra- overfeeding is common in bottle-fed infants. abdominal length of oesophagus all contribute. While If transient, with other symptoms, e.g. fever, common in the 1st year of life, nearly all symptomatic diarrhoea or runny nose and cough, most likely reflux resolves spontaneously by 12 months of age. to be gastroenteritis or respiratory tract This is probably due to a combination of maturation infection, but consider urine infection, sepsis or of the lower oesophageal sphincter, assumption of an meningitis. upright posture and more solids in the diet. If projectile at 2–8 weeks of age, exclude pyloric Most infants with gastro-oesophageal reflux have stenosis. recurrent regurgitation or vomiting but are putting on If bile stained, potential emergency – exclude weight normally and are otherwise well, although the intestinal obstruction, especially mess, smell, and frequent changes of clothes (5% of intussusception, malrotation and a those affected have 6 or more episodes each day) is strangulated inguinal hernia. Assess for frustrating for parents and carers. dehydration and shock. Gastro-oesophageal reflux is usually a benign, self- 235 limited condition but when it becomes a significant  problem (Box 14.2) it becomes gastro-oesophageal preterm infants, especially in those with reflux disease and needs treatment. bronchopulmonary dysplasia Gastro-oesophageal reflux disease is more following surgery for oesophageal atresia or common in: diaphragmatic hernia. children with cerebral palsy or other neurodevelopmental disorders Investigation Gastro-oesophageal reflux is usually diagnosed clini- Box 14.2 Complications of gastro-oesophageal reflux cally and no investigations are required. However, they 14 (i.e. gastro-oesophageal reflux disease) Faltering growth from severe vomiting may be indicated if the history is atypical, complications are present, or there is failure to respond to treatment. Investigations include: Oesophagitis – haematemesis, discomfort on 24-hour oesophageal pH monitoring to quantify Not Gastroenterology feeding or heartburn, iron-deficiency anaemia the degree of acid reflux (see Case History 14.1) Recurrent pulmonary aspiration – recurrent available in pneumonia, cough or wheeze, apnoea in 24-hour impedance monitoring which is available SA state in some centres. Weakly acidic or nonacid reflux, preterm infants which may cause disease, is also measured hospitals Dystonic neck posturing (Sandifer syndrome) endoscopy with oesophageal biopsies to identify Apparent life-threatening events oesophagitis and exclude other causes of vomiting. Case history 14.1 Gastro-oesophageal reflux disease Informative reading This infant (Fig. 14.2a) had a history of frequent regur- gitation from the first few days of life. He developed two chest infections. Some of the vomits contained altered blood. A 24-hour oesophageal pH study showed severe gastro-oesophageal reflux disease (Fig. 14.2b,c). Endoscopy showed oesophagitis. He had probably had episodes of aspiration pneumonia. Symptoms resolved on treatment with feed thickeners and omeprazole. His parents also commented on how much better he slept at night. Treatment was reduced from 14 months of age and the symptoms did not recur. Figure 14.2a A pH sensor has been placed in the lower oesophagus. (Courtesy of Ian Booth.) pH pH 8 8 6 6 4 4 2 2 0 0 12.00 13.00 16.00 17.00 Time Time Figure 14.2b A section of the 24-hour oesophageal Figure 14.2c A section of a normal oesophageal pH study showing severe reflux, with frequent pH study. The lower oesophageal pH is above 4 for drops in pH below 4. (Courtesy of Ian Booth.) most of the time. (Courtesy of Ian Booth.) 236 Contrast studies of the upper gastrointestinal tract may A hypochloraemic metabolic alkalosis with a low support the diagnosis but are neither sensitive nor plasma sodium and potassium occurs as a result of specific. They may be required in gastro-oesophageal vomiting stomach contents. disease to exclude underlying anatomical abnormali- ties in the oesophagus, stomach, and duodenum, and Diagnosis to identify malrotation. Unless immediate fluid resuscitation is required, a test feed is performed. The baby is given a milk feed, which Management will calm the hungry infant, allowing examination. Uncomplicated gastro-oesophageal reflux has an Gastric peristalsis may be seen as a wave moving from Gastroenterology excellent prognosis and can be managed by parental left to right across the abdomen (Fig. 14.3a). The pyloric reassurance, adding inert thickening agents to feeds mass, which feels like an olive, is usually palpable in (e.g. Carobel), and smaller, more frequent feeds. the right upper quadrant (Fig. 14.3b). If the stomach Significant gastro-oesophageal reflux disease is is overdistended with air, it will need to be emptied managed with acid suppression with either hydrogen by a nasogastric tube to allow palpation. Ultrasound receptor antagonists (e.g. ranitidine) or proton-pump examination may be helpful (Fig. 14.3c) to confirm the inhibitors (e.g. omeprazole). These drugs reduce the diagnosis prior to surgery. volume of gastric contents and treat acid-related oesophagitis. The evidence for the use of drugs that Management enhance gastric emptying (e.g. domperidone) is poor The initial priority is to correct any fluid and electrolyte and as they are associated with significant side-effects disturbance with intravenous fluids. Once hydration their use should be discouraged. If the child fails to and acid–base and electrolytes are normal, definitive respond to these measures, other diagnoses such as treatment by pyloromyotomy can be performed. This cow’s milk protein allergy should be considered and involves division of the hypertrophied muscle down to, further investigations performed. but not including, the mucosa (Fig. 14.3d). The opera- Surgical management is reserved for children with tion can be performed either as an open procedure via complications unresponsive to intensive medical treat- a periumbilical incision or laparoscopically. Postopera- ment or oesophageal stricture. A Nissen fundoplica- tively, the child can usually be fed within 6 hours and tion, in which the fundus of the stomach is wrapped discharged within 2 days of surgery. around the intra-abdominal oesophagus, is performed either as an abdominal or as a laparoscopic procedure. Summary Summary Pyloric stenosis More common in boys and in those with a Gastro-oesophageal reflux family history. Occurs in otherwise normal infants, but risk is Signs are visible gastric peristalsis, palpable increased if the infant has neuromuscular abdominal mass on test feed, and possible problems or has had surgery to the oesophagus dehydration. or diaphragm. Associated with hyponatraemia, hypokalaemia, Is treated if troublesome with feed thickening, and hypochloraemic alkalosis. medication, and rarely fundoplication. Diagnosis may be confirmed by ultrasound. Investigations are performed if diagnosis is Treated by surgery after rehydration and unclear or complications occur (gastro- correction of electrolyte imbalance. oesophageal reflux disease). Pyloric stenosis Crying In pyloric stenosis, there is hypertrophy of the pyloric The time healthy babies cry for is highly variable. In muscle causing gastric outlet obstruction. It presents most, it represents the baby’s response to hunger and at 2–8 weeks of age, irrespective of gestational age. It discomfort. Reassurance and advice on appropriate is more common in boys (4 : 1), particularly firstborn, feeding will usually suffice. and there may be a family history, especially on the Some babies cry for prolonged periods in spite maternal side. of feeding and comforting and this is distressing for Clinical features are: all concerned. It can engender a feeling of anxiety, vomiting, which increases in frequency and helplessness and depression in parents and carers, par- forcefulness over time, ultimately becoming ticularly if they are inexperienced or poorly supported. projectile It has also been suggested that the emotional climate hunger after vomiting until dehydration leads to within a home may be transmitted to a baby, and that loss of interest in feeding in some instances, tense, anxious, or irritable caregivers 237 weight loss if presentation is delayed. are more likely to have fretful babies. The complaint  Pyloric stenosis 14 Gastroenterology a b c Figure 14.3 (a) Visible gastric peristalsis in an infant with pyloric stenosis; (b) Diagram showing a test feed being performed to diagnose pyloric stenosis. The pyloric mass feels like an ‘olive’ on gentle, deep palpation halfway between the midpoint of the anterior margin of the right ribcage and the umbilicus; (c) ultrasound examination showing gastric contents in the antrum and an elongated pylorus (dotted line); and. (d) pyloric stenosis at operation showing pale, thick pyloric muscle, and pyloromyotomy incision. (Courtesy of Anthony Lander) d that a baby is ‘always crying’ may also be a pointer to of excessive flatus takes place several times a day. There potential or actual non-accidental injury. is no firm evidence that the cause is gastrointestinal, A cause for the crying is identified in a minority of but this is often suspected. The condition occurs in infants. If of sudden onset, it may be due to a urinary up to 40% of babies. It typically occurs in the first few tract, middle ear or meningeal infection; pain from weeks of life and resolves gradually from 3–12 months an unrecognized fracture; oesophagitis; or torsion of of age. The condition is benign but it is very frustrat- the testis. Severe nappy rash and constipation may ing and worrying for parents and may precipitate produce a miserable, crying infant. Preterm infants who non-accidental injury in infants already at risk. Support have spent several weeks in hospital can be difficult and reassurance should be given. ‘Gripe water’ is often If to settle, as can infants with a chronic neurological recommended but is of unproven benefit. If severe and considering disorder, e.g. cerebral palsy. On the basis of countless persistent, it may be due to a cow’s milk protein allergy treatment, reports of parents, eruption of teeth is painful in some and an empirical 2-week trial of a protein hydrolysate rather refer infants. However, teething does not cause vomiting, formula (cow’s milk protein free) may be considered to a diarrhoea, high fever or seizures. and continued if symptoms improve. If they do not, paediatrician Acknowledging that troublesome crying is then a trial of gastro-oesophageal reflux treatment may extremely distressing is part of the management. be considered. Reducing overstimulation from jigging and winding and encouraging a quiet environment and holding the baby close until the crying stops appear to help many Acute abdominal pain Learn well; babies. Parental support through follow-up by health includes professionals is helpful. Assessment of the child with acute abdominal pain paediatric requires considerable skill. The differential diagnosis surgical Infant ‘colic’ of acute abdominal pain in children is extremely wide, topics encompassing non-specific abdominal pain, surgical The term ‘colic’ is used to describe a common symptom causes and medical conditions (Fig. 14.4). In nearly complex that occurs during the first few months of life. half of the children admitted to hospital, the pain 238 Paroxysmal, inconsolable crying or screaming often resolves undiagnosed. In young children it is essential accompanied by drawing up of the knees and passage not to delay the diagnosis and treatment of acute  Causes of acute abdominal pain Surgical Intra-abdominal Medical Extra-abdominal Acute appendicitis Non-specific abdominal pain Upper respiratory tract infection Intestinal obstruction including Gastroenteritis Lower lobe pneumonia intussusception Urinary tract: Torsion of the testis Gastroenterology Inguinal hernia urinary tract infection Hip and spine Peritonitis acute pyelonephritis Inflamed Meckel diverticulum hydronephrosis Pancreatitis renal calculus Trauma Henoch–Schönlein purpura Diabetic ketoacidosis Sickle cell disease Hepatitis Inflammatory bowel disease Constipation Recurrent abdominal pain of childhood Gynaecological in pubertal females Psychological Lead poisoning Acute porphyria (rare) Unknown Figure 14.4 Causes of acute abdominal pain. appendicitis, as progression to perforation can be rapid. It is easy to belittle the clinical signs of abdominal tenderness in young children. Of the surgical causes, appendicitis is by far the most common. The testes, hernial orifices and hip joints must always be checked. It is noteworthy that: lower lobe pneumonia may cause pain referred to the abdomen primary peritonitis is seen in patients with ascites from nephrotic syndrome or liver disease diabetic ketoacidosis may cause severe abdominal pain urinary tract infection, including acute Figure 14.5 Appendicitis at operation showing a pyelonephritis, is a relatively uncommon cause of perforated acutely inflamed appendix covered in acute abdominal pain, but must not be missed. It fibrin. (Courtesy of Anthony Lander.) is important to test a urine sample, in order to identify not only diabetes mellitus but also conditions affecting the liver and urinary tract pancreatitis may present with acute abdominal pain and serum amylase should be checked. – Abdominal pain, initially central and colicky (appendicular midgut colic), but then localizing to the right iliac fossa (from localized peritoneal Acute appendicitis inflammation) Signs Acute appendicitis is the most common cause of abdominal pain in childhood requiring surgical inter- – Fever vention (Fig. 14.5). Although it may occur at any age, – Abdominal pain aggravated by movement, e.g. on walking, coughing, jumping, bumps on the it is very uncommon in children under 3 years of age. road during a car journey The clinical features of acute uncomplicated appen- dicitis are: – Persistent tenderness with guarding in the right iliac fossa (McBurney’s point). However, with a Symptoms retrocaecal appendix, localized guarding may – Anorexia be absent, and in a pelvic appendix there may 239 – Vomiting be few abdominal signs.  In preschool children: Summary The diagnosis is more difficult, particularly early in the disease. Acute abdominal pain in older children Faecoliths are more common and can be seen on a and adolescents plain abdominal X-ray. Exclude medical causes, in particular lower lobe Perforation may be rapid, as the omentum is pneumonia, diabetic ketoacidosis, hepatitis, and less well developed and fails to surround the pyelonephritis. appendix, and the signs are easy to underestimate 14 at this age. Check for strangulated inguinal hernia or torsion of the testis in boys. Appendicitis is a progressive condition and so repeated On palpating the abdomen in children with observation and clinical review every few hours are key acute appendicitis, guarding and rebound to making the correct diagnosis, avoiding delay on the Gastroenterology tenderness are often absent or unimpressive, one hand and unnecessary laparotomy on the other. but pain from peritoneal inflammation may be No laboratory investigation or imaging is consist- demonstrated on coughing, walking or ently helpful in making the diagnosis. A neutrophilia is jumping. not always present on a full blood count. White blood cells or organisms in the urine are not uncommon in To distinguish between acute appendicitis and appendicitis as the inflamed appendix may be adjacent non-specific abdominal pain may require close to the ureter or bladder. Although ultrasound is no monitoring, joint management between substitute for regular clinical review, it may support paediatricians and paediatric surgeons and the clinical diagnosis (thickened, non-compressible repeated evaluation in hospital. appendix with increased blood flow), and demonstrate associated complications such as an abscess, perfora- tion or an appendix mass, and may exclude other pathology causing the symptoms. In some centres, laparoscopy is available to see whether or not the common cause of intestinal obstruction in infants after appendix is inflamed. the neonatal period. Although it may occur at any age, Appendicectomy is straightforward in uncompli- the peak age of presentation is 3 months – 2 years cated appendicitis. Complicated appendicitis includes of age. The most serious complication is stretching the presence of an appendix mass, an abscess, or and constriction of the mesentery resulting in venous perforation. If there is generalized guarding consistent obstruction, causing engorgement and bleeding with perforation, fluid resuscitation and intravenous from the bowel mucosa, fluid loss, and subsequently antibiotics are given prior to laparotomy. If there is a bowel perforation, peritonitis and gut necrosis. Prompt palpable mass in the right iliac fossa and there are no diagnosis, immediate fluid resuscitation and urgent signs of generalized peritonitis, it may be reasonable to reduction of the intussusception are essential to avoid elect for conservative management with intravenous complications. antibiotics, with appendicectomy being performed Presentation is typically with: after several weeks. If symptoms progress, laparotomy Paroxysmal, severe colicky pain with pallor is indicated. – during episodes of pain, the child becomes pale, especially around the mouth, and draws up the legs. There is recovery between the painful Non-specific abdominal pain and episodes but subsequently the child may become mesenteric adenitis increasingly lethargic. May refuse feeds, may vomit, which may become Non-specific abdominal pain is abdominal pain which bile stained depending on the site of the resolves in 24–48 hours. The pain is less severe than in intussusception. appendicitis, and tenderness in the right iliac fossa is A sausage-shaped mass – often palpable in the variable. It is often accompanied by an upper respira- abdomen (Fig. 14.6b). tory tract infection with cervical lymphadenopathy. Passage of a characteristic redcurrant jelly stool In some of these children, the abdominal signs do comprising blood-stained mucus – this is a not resolve and an appendicectomy is performed. characteristic sign but tends to occur later in the Mesenteric adenitis is often diagnosed in those illness and may be first seen after a rectal children in whom large mesenteric nodes are seen at examination. laparoscopy and whose appendix is normal, but there Abdominal distension and shock. are doubts whether this condition truly exists as a Usually, no underlying intestinal cause for the intus- diagnostic entity. susception is found, although there is some evidence that viral infection leading to enlargement of Peyer’s Intussusception patches may form the lead point of the intussusception. An identifiable lead point such as a Meckel diverticulum Intussusception describes the invagination of proxi- or polyp is more likely to be present in children over 2 mal bowel into a distal segment. It most commonly years of age. Intravenous fluid resuscitation is likely to 240 involves ileum passing into the caecum through the be required immediately, as there is often pooling of ileocaecal valve (Fig. 14.6a). Intussusception is the most fluid in the gut, which may lead to hypovolaemic shock.  Intussusception Gastroenterology Figure 14.6a Intussusception, showing why the blood supply to the gut rapidly becomes compromised, making relief of this form of obstruction urgent. Figure 14.6b A child with an intussusception. The mass can be seen in the upper abdomen. The child has become shocked. Figure 14.6d Intussusception at operation showing the ileum entering the caecum. The Figure 14.6c An abdominal X-ray demonstrating surgeon is squeezing the colon to reduce the an intussusception (see arrowhead), with contrast. intussusception. (Courtesy of Anthony Lander.) An X-ray of the abdomen may show distended small bowel and absence of gas in the distal colon or rectum. Summary Sometimes the outline of the intussusception itself can be visualized. Abdominal ultrasound is helpful both to Intussusception confirm the diagnosis (the so-called target/doughnut Usually occurs between 3 months and 2 years sign) and to check response to treatment. Unless there of age. are signs of peritonitis, reduction of the intussuscep- Clinical features are paroxysmal, colicky pain tion by rectal air insufflation is usually attempted by with pallor, abdominal mass and redcurrant a radiologist (Fig. 14.6c). This procedure should only jelly stool. be carried out once the child has been resuscitated and is under the supervision of a paediatric surgeon in Shock is an important complication and case the procedure is unsuccessful or bowel perfora- requires urgent treatment. tion occurs. The success rate of this procedure is about Reduction is attempted by rectal air insufflation 75%. The remaining 25% require operative reduction unless peritonitis is present. (Fig. 14.6d). Recurrence of the intussusception occurs Surgery is required if reduction with air is in less than 5% but is more frequent after hydrostatic unsuccessful or for peritonitis. 241 reduction. 14 Gastroenterology Figure 14.7 Technetium scan showing uptake by ectopic gastric mucosa in a Meckel diverticulum in the right iliac fossa. Meckel diverticulum Figure 14.8 The most common form of malrotation, with the caecum remaining high and fixed to the Around 2% of individuals have an ileal remnant of the posterior abdominal wall. There are Ladd bands vitello-intestinal duct, a Meckel diverticulum, which obstructing the duodenum. Dotted lines show normal contains ectopic gastric mucosa or pancreatic tissue. anatomy. Most are asymptomatic but they may present with severe rectal bleeding, which is classically neither urgent upper gastrointestinal contrast study to assess bright red nor true melaena. There is usually an acute intestinal rotation, unless signs of vascular compromise reduction in haemoglobin. Other forms of presenta- are present, when an urgent laparotomy is needed. This tion include intussusception, volvulus (twisting of the is a surgical emergency as, when a volvulus occurs, the bowel), or diverticulitis, when inflammation of the superior mesenteric arterial blood supply to the small diverticulum mimics appendicitis. A technetium scan intestine and proximal large intestine is compromised will demonstrate increased uptake by ectopic gastric and unless it is corrected will lead to infarction of mucosa in 70% of cases (Fig. 14.7). Treatment is by these areas. surgical resection. At operation, the volvulus is untwisted, the duo- denum mobilized, and the bowel placed in the non- Summary rotated position with the duodenojejunal flexure on the right and the caecum and appendix on the left. Meckel diverticulum The malrotation is not ‘corrected’, but the mesentery Occurs in 2% of individuals. broadened. The appendix is generally removed to avoid Generally asymptomatic, but may present with diagnostic confusion should the child subsequently bleeding (which may be life-threatening) or have symptoms suggestive of appendicitis. intussusception or volvulus. Treatment is by surgical resection. Summary Malrotation and volvulus! Malrotation Uncommon but important to diagnose. During rotation of the small bowel in fetal life, if the Usually presents in the first 1–3 days of life with mesentery is not fixed at the duodenojejunal flexure intestinal obstruction from Ladd bands or in the ileocaecal region, its base is shorter than obstructing the duodenum or volvulus. normal, and is predisposed to volvulus. Ladd bands May present at any age with volvulus causing are peritoneal bands that may cross the duodenum, obstruction and ischaemic bowel. often anteriorly (Fig. 14.8). Clinical features are bilious vomiting, abdominal There are two presentations: pain and tenderness from peritonitis or obstruction ischaemic bowel. obstruction with a compromised blood supply. An urgent upper gastrointestinal contrast study 242 Obstruction with bilious vomiting is the usual presen- is indicated if there is bilious vomiting. tation in the first few days of life but can be seen at a Treatment is urgent surgical correction. later age. Any child with dark green vomiting needs an  Abdominal migraine Recurrent abdominal pain Abdominal migraine is often associated with abdomi- Recurrent abdominal pain is a common childhood nal pain in addition to headaches, and in some children problem. It is often defined as pain sufficient to inter- the abdominal pain predominates. The attacks of rupt normal activities and lasts for at least 3 months. It abdominal pain are midline associated with vomiting occurs in about 10% of school-age children. An organic and facial pallor. There is usually a personal or family cause (see Summary box) is identified in less than 10% history of migraine. The history is characteristic with of cases. The pain is characteristically periumbilical and long periods (often weeks) of no symptoms and then a Gastroenterology the children are otherwise entirely well. Constipation shorter period (12–48 hours) of non-specific abdominal is a frequent cause of recurrent abdominal pain and pain and pallor, with or without vomiting. Treatment must be excluded. The widely held belief that they with anti-migraine medication may be of benefit if the have psychogenic pain is without foundation, with a problem causes school absence. number of studies having failed to show a difference between such children and their families and controls. In some children, it may however be a manifestation Irritable bowel syndrome of stress (see Ch. 24) or it may become part of a vicious cycle of anxiety with escalating pain leading to family This disorder, also common in adults, is associated with distress and demands for increasingly invasive inves- altered gastrointestinal motility and an abnormal sen- tigations. There is evidence that anxiety may lead to sation of intra-abdominal events. Symptoms may be altered bowel motility, which may be perceived by the precipitated by a gastro-intestinal infection. Studies of child as pain. pressure changes within the small intestine of children It is increasingly recognized that many will have with irritable bowel syndrome suggest that abnormally distinct symptom constellations resulting from func- forceful contractions occur. It has also been shown that tional abnormalities of gut motility – irritable bowel affected adults experience pain on inflation of balloons syndrome (most common), constipation, and less in the intestine at substantially lower volumes than do commonly coeliac disease, abdominal migraine and controls. There is therefore an inter-play between these functional dyspepsia. two factors, both of which are modulated by psycho­ social factors such as stress and anxiety. There is often a positive family history and a char- Management acteristic set of symptoms, although not all patients experience every symptom: The aim is to identify any serious cause without subjecting the child to unnecessary investigation, non-specific abdominal pain, often peri-umbilical, while providing reassurance to the child and parents. may be worse before or relieved by defaecation To do this, a full history and thorough examina- explosive, loose, or mucousy stools tion is required, which includes inspection of the bloating perineum for anal fissures. The child’s growth should feeling of incomplete defecation be checked. constipation (often alternating with normal or A urine microscopy and culture is mandatory as loose stools). urinary tract infections may cause pain in the absence Some children and adults with irritable bowel of other symptoms or signs. An abdominal ultrasound symptoms have coeliac disease, which is why coeliac is particularly helpful in excluding gall stones and pelvi- antibody serology must be checked. ureteric junction obstruction. Although there are many potential organic causes, most are rare. Coeliac antibodies and thyroid function Peptic ulceration, gastritis, and tests should be checked, but further investigations functional dyspepsia should be performed only if clinically indicated. With irritable bowel syndrome and functional dys- The greater use of endoscopy in children and the iden- pepsia, it can be helpful to explain to both the child tification of the Gram-negative organism Helicobacter and parents that ‘sometimes the insides of the intestine pylori in association with antral gastritis have focused become so sensitive that some children can feel the attention on it as a potential cause of abdominal pain food going round the bends’. It is also necessary to in children. In adults and probably in children, there is make a distinction between ‘serious’ and ‘dangerous’. substantial evidence that H. pylori is a strong predis- These disorders can be serious, if, for example, they posing factor to duodenal ulcers. Duodenal ulcers are lead to substantial loss of schooling, but they are not uncommon in children but should be considered in dangerous. those with epigastric pain, particularly if it wakes them The long-term prognosis is that: at night, if the pain radiates through to the back, or about half of affected children rapidly become free when there is a history of peptic ulceration in a first- of symptoms degree relative. in one-quarter, the symptoms take some months H. pylori causes a nodular antral gastritis, which to resolve may be associated with abdominal pain and nausea. in one-quarter, symptoms continue or return in It is usually identified in gastric antral biopsies. The 243 adulthood as migraine, irritable bowel syndrome organism produces urease, which forms the basis for or functional dyspepsia. a laboratory test on biopsies and the 13C breath test  Summary Causes and assessment of the child with recurrent abdominal pain >90% no structural cause identified Gynaecological Hepatobility/pancreatic Dysmenorrhoea Hepatitis Gastrointestinal Ovarian cysts Gall stones Irritable bowel syndrome Pelvic inflammatory disease Pancreatitis 14 Constipation Non-ulcer dyspepsia Abdominal migraine Psychosocial – bullying, abuse, stress, etc. – a small proportion Urinary tract Urinary tract infection Gastritis and peptic ulceration Pelvi-ureteric junction Gastroenterology Eosinophilic oesophagitis Inflammatory bowel disease (PUJ) obstruction Malrotation Symptoms and signs that suggest organic disease: Epigastric pain at night, haematemesis (duodenal ulcer) Diarrhoea, weight loss, growth failure, blood in stools (inflammatory bowel disease) Vomiting (pancreatitis) Jaundice (liver disease) Dysuria, secondary enuresis (urinary tract infection) Bilious vomiting and abdominal distension (malrotation) following the administration of 13C-labelled urea by It can present with vomiting, discomfort on swal- mouth. Stool antigen for H. pylori may be positive in lowing or bolus dysphagia, when food “sticks in the infected children. Serological tests are less reliable in upper chest”. It is probably an allergic phenomenon young children but may be helpful in older children. although the precise pathophysiology is unclear. It Children in whom peptic ulceration is suspected is more common in children with other features of should be treated with proton-pump inhibitors, e.g. atopy (asthma, eczema, and hay fever). Diagnosis is by omeprazole, and if investigations suggest they have an endoscopy where macroscopically, linear furrows and H. pylori infection, eradication therapy should be given trachealization of the oesophagus may be seen, and (amoxicillin and metronidazole or clarithromycin). microscopically, eosinophilic infiltration is identified. Those who fail to respond to treatment or whose Treatment is with swallowed corticosteroids in the symptoms recur on stopping treatment should have form of fluticasone or viscous budesonide. Exclusion an upper gastrointestinal endoscopy and, if this is diets may be of benefit in young children. normal, functional dyspepsia is diagnosed. Functional dyspepsia is probably a variant of irritable bowel syndrome. As well as having symptoms of peptic ulceration, Gastroenteritis children with functional dyspepsia have rather more non-specific symptoms, including early satiety, bloat- In developing countries, gastroenteritis remains a major ing, and postprandial vomiting and may have delayed cause of child mortality. In developed countries, it is a gastric emptying as a result of gastric dysmotility. cause of significant morbidity, particularly in younger Treatment is difficult but some children respond to a children. In the UK, approximately 10% of children hypoallergenic diet. under 5 years of age annually present to health services with gastroenteritis and it remains a common reason Eosinophilic oesophagitis for hospital admission in young children. The most frequent cause of gastroenteritis in devel- Eosinophilic oesophagitis is an inflammatory condi- oped countries is rotavirus infection, which accounts 244 tion affecting the oesophagus caused by activation for up to 60% of cases in children under 2 years of of eosinophils within the mucosa and submucosa. age, particularly during the winter and early spring. An  Box 14.3 Conditions that can mimic gastroenteritis older children, leading to greater insensible water losses (300 ml/m2 per day, equivalent in infants to Systemic infection Septicaemia, meningitis 15–17 ml/kg per day). They also have higher basal fluid Local infections Respiratory tract infection, requirements (100–120 ml/kg per day, i.e. 10% to 12% otitis media, hepatitis A, of bodyweight) and immature renal tubular reabsorp- urinary tract infection tion. In addition, they are unable to obtain fluids for Surgical disorders Pyloric stenosis, themselves when thirsty. intussusception, acute appendicitis, necrotizing enterocolitis, Hirschsprung Gastroenterology disease Assessment Metabolic disorder Diabetic ketoacidosis Clinical assessment of dehydration is important but Renal disorder Haemolytic uraemic difficult. The most accurate measure of dehydration is syndrome the degree of weight loss during the diarrhoeal illness. Other Coeliac disease, cow’s milk A recent weight measurement is useful but is often protein allergy, lactose not available and may be misleading if the child had intolerance, adrenal clothes on or the different measuring scales are not insufficiency accurate. The history and examination are used to assess the degree of dehydration as: no clinically detectable dehydration (usually 10% loss of body weight; Fig. 14.9 gramme in the UK but is given in many other countries. and Table 14.1). Shock must be identified without vary Other viruses, particularly adenovirus, norovirus, calici- delay. according virus, coronavirus and astrovirus may cause outbreaks. to location, Bacterial causes are less common in developed but this is a countries but may be suggested by the presence of Isonatraemic and hyponatraemic good list to blood in the stools. Campylobacter jejuni infection, the dehydration learn. most common of the bacterial infections in developed In dehydration, there is a total body deficit of sodium countries, is often associated with severe abdominal and water. In most instances, the losses of sodium and pain. Shigella and some salmonellae produce a water are proportional and plasma sodium remains dysenteric type of infection, with blood and pus in within the normal range (isonatraemic dehydration). the stool, pain and tenesmus. Shigella infection may When children with diarrhoea drink large quantities of be accompanied by high fever. Cholera and entero- water or other hypotonic solutions, there is a greater toxigenic Escherichia coli infection are associated with net loss of sodium than water, leading to a fall in plasma profuse, rapidly dehydrating diarrhoea. However, sodium (hyponatraemic dehydration). This leads to a clinical features act as a poor guide to the pathogen. shift of water from extracellular to intracellular com- The third cause of gastroenteritis is protozoan partments. The increase in intracellular volume leads parasite infection such as Giardia and Cryptosporidium. to an increase in brain volume, which may result in In gastroenteritis there is a sudden change to loose seizures, whereas the marked extracellular depletion or watery stools often accompanied by vomiting. leads to a greater degree of shock per unit of water loss. There may be contact with a person with diarrhoea This form of dehydration is more common in poorly and/or vomiting or recent travel abroad. A number nourished infants in developing countries. of disorders may masquerade as gastroenteritis (Box 14.3) and, when in doubt, hospital referral is essential. Hypernatraemic dehydration Dehydration leading to shock is the most serious com- plication and its prevention or correction is the main Infrequently, water loss exceeds the relative sodium aim of treatment. loss and plasma sodium concentration increases The following children are at increased risk of (hypernatraemic dehydration). This usually results dehydration: from high insensible water losses (high fever or hot, dry environment) or from profuse, low-sodium diar- infants, particularly those under 6 months of age rhoea. The extracellular fluid becomes hypertonic or those born with low birthweight with respect to the intracellular fluid, which leads to if they have passed six or more diarrhoeal stools in a shift of water into the extracellular space from the the previous 24 hours intracellular compartment. Signs of extracellular fluid if they have vomited three or more times in the depletion are therefore less per unit of fluid loss, and previous 24 hours depression of the fontanelle, reduced tissue elasticity, if they have been unable to tolerate (or not been and sunken eyes are less obvious. This makes this form offered) extra fluids of dehydration more difficult to recognize clinically, if they have malnutrition. particularly in an obese infant. It is a particularly Infants are at particular risk of dehydration because dangerous form of dehydration as water is drawn 245 they have a greater surface area-to-weight ratio than out of the brain and cerebral shrinkage within a  Decreased level Pale or of consciousness mottled skin Hypotension Sunken fontanelle Dry mucous membranes 14 Eyes sunken and tearless Gastroenterology Tachypnoea Prolonged capillary refill time Tachycardia Reduced Sudden Reduced Cold Weak peripheral tissue turgor weight loss urine output extremities pulses Figure 14.9 Clinical features of shock from dehydration in an infant. Table 14.1 Clinical assessment of dehydration No clinical dehydration Clinical dehydration Shock General appearance Appears well Appears unwell or Appears unwell or deteriorating deteriorating Conscious level Alert and responsive Altered responsiveness, Decreased level of e.g. irritable, lethargic consciousness Urine output Normal Decreased Decreased Skin colour Normal Normal Pale or mottled Extremities Warm Warm Cold Eyes Normal Sunken Grossly sunken Mucous membranes Moist Dry Dry Heart rate Normal Tachycardia Tachycardia Breathing Normal Tachypnoea Tachypnoea Peripheral pulses Normal Normal Weak Capillary refill time Normal Normal Prolonged (>2 s) Skin turgor Normal Reduced Reduced Blood pressure Normal Normal Hypotension (indicates decompensated) The more numerous and more pronounced the symptoms and signs, the greater the severity of dehydration. (Adapted from National Institute for Health and Clinical Excellence (NICE): Guideline. Diarrhoea and Vomiting in Children under 5, London, 2009, NICE.) ‘Red flag’ sign – helps to identify children at risk of progression to shock. rigid skull may lead to jittery movements, increased Investigation muscle tone with hyperreflexia, altered consciousness, seizures, and multiple, small cerebral haemorrhages. Usually, no investigations are indicated. Stool culture Transient hyperglycaemia occurs in some patients with is required if the child appears septic, if there is blood 246 hypernatraemic dehydration; it is self-correcting and or mucus in the stools, or the child is immunocom- does not require insulin. promised. It may be indicated following recent foreign travel, if the diarrhoea has not improved by day 7, dehydration, oral rehydration solution is the mainstay or if the diagnosis is uncertain. Plasma electrolytes, of therapy (see Case History 14.2); it may also be used urea, creatinine, and glucose should be checked if as an adjunct in its prevention. Intravenous fluids are intravenous fluids are required or there are features only indicated for shock or deterioration or persistent suggestive of hypernatraemia. If antibiotics are started, vomiting. a blood culture should be taken. Hypernatraemic dehydration Management The management of hypernatraemic dehydration can be particularly difficult. Oral rehydration solution should Gastroenterology This is shown in Fig. 14.10. Where clinical dehydration is be used to rehydrate hypernatraemic children with not present, the aim is its prevention. If there is clinical clinical dehydration. If intravenous fluids are required, Fluid management of dehydration due to gastroenteritis No clinical dehydration Clinical dehydration Shock Prevent dehydration Oral rehydration solution Intravenous therapy Continue breastfeeding and Give fluid deficit replacement Give bolus of 0.9% sodium other milk feeds (50 ml/kg) over 4 hours as chloride solution. Repeat if Encourage fluid intake to well as maintenance fluid necessary. If remains shocked, compensate for increased requirement. Give ORS often and consider consulting paediatric gastrointestinal losses in small amounts intensive care specialist Discourage fruit juices and Continue breastfeeding carbonated drinks Consider supplementing ORS with Oral rehydration solution usual fluids if inadequate intake of (ORS) as supplemental fluid ORS if at increased risk of If inadequate fluid intake or dehydration vomits persistently, consider giving ORS via nasogastric tube In gastroenteritis, death is Deterioration or persistent Symptoms/signs of shock from dehydration; its prevention vomiting improve or correction is the mainstay of management Intravenous therapy for rehydration Rapid intravenous therapy Replace fluid deficit over 24 hours in most cases and give maintenance fluids is indicated in shock from Unless a recent weight measurement is available, clinical estimation of hydration gastroenteritis. However, it may status is difficult. Consider fluid deficit to be 100 ml/kg (10% body weight) if be harmful in head injury, shock is present and 50 ml/kg (5% body weight) if not in shock malnutrition or diabetic For maintenance fluids see Table 6.1 ketoacidosis. It was also harmful Give 0.9% sodium chloride solution or 0.9% sodium chloride solution with in a trial of severe febrile illness 5% glucose without shock in children in Monitor plasma electrolytes, urea, creatinine, and glucose. Consider intravenous Africa (FEAST trial). Under these potassium supplementation circumstances, intravenous fluids Continue breastfeeding if possible should be given cautiously and clinical response monitored closely. After rehydration Give full strength milk and reintroduce usual solid food Avoid fruit juices and carbonated drinks Advise parents – diligent hand washing, towels used by infected child not to be shared, do not return to childcare facility or school until 48 hours after last episode Figure 14.10 Management of dehydration. (Adapted from National Institute for Health and Clinical Excellence 247 (NICE): Guideline. Diarrhoea and Vomiting in Children under 5, London, 2009, NICE.)  Case history 14.2 Informative reading Gastroenteritis eradicated. Coca-Cola and apple juice have a much lower sodium content and higher osmolarity than oral Darpana is 14 months old and has had a mild fever, a rehydration solution and are unsuitable as oral rehy- runny nose, and is not interested in playing. She has dration solutions. been drinking only small volumes of milk, vomited four 14 times over the last 2 days but now has increasing loose stools, with 9 or 10 watery nappies changed over the last 24 hours. On examination, she has a temperature Intestinal Extracellular of 37.8°C, is irritable, and has clinical dehydration. Oral lumen fluid Gastroenterology rehydration solution is prescribed and her diarrhoea and vomiting settle over the next day. Why does the K+ diarrhoea resolve with oral rehydration solution? The mechanism of action of oral rehydration solu- Na tion is shown in Fig. 14.11. Large quantities of sodium Na+ Na+ are excreted into the intestine, but nearly all is reab- Glucose Glucose Glucose sorbed. The primary mechanism of sodium absorption is by a glucose–sodium transporter, with the active absorption of sodium allied to the absorption of Tight junction glucose. The sodium is then actively pumped from epi- thelial cells into the circulation via sodium/potassium adenosine triphosphatase, creating an electrochemical Na+ K+ gradient that water moves down. A second mechanism is via an active, linked sodium–hydrogen exchanger. H+ Na+ If an oral solution contains both sodium and glucose, sodium and passive water absorption is increased. This works effectively even in the presence of inflammation H2O H2O of the gut, and is therefore effective in diarrhoeal illness. The oral rehydration solution does not ‘stop’ the diarrhoea, which often continues, but the absorp- tion of water and solutes exceeds secretion and keeps Figure 14.11 Mechanism of action of oral rehydration the child hydrated until the infective organism is solution. a rapid reduction in plasma sodium concentration and gastroenteritis if aged under 6 months, in malnourished osmolality will lead to a shift of water into cerebral or immunocompromised children, or for specific bac- cells and may result in seizures and cerebral oedema. terial or protozoal infections (e.g. Clostridium difficile The reduction in plasma sodium should therefore be associated with pseudomembranous colitis, cholera, slow. The fluid deficit should be replaced over at least shigellosis, giardiasis). 48 hours (with 0.9% or 0.45% saline) and the plasma sodium measured regularly, aiming to reduce it at less than 0.5 mmol/l per hour. Nutrition In developing countries, multiple episodes of diarrhoea Antidiarrhoeal drugs (e.g. loperamide, are a major contributing factor to the development of Lomotil) and antiemetics malnutrition. Following diarrhoea, nutritional intake should be increased. Diarrhoea may be associated with There is no place for medications for the vomiting or zinc deficiency and supplementation may be helpful in diarrhoea of gastroenteritis in children as they: both acute diarrhoea and as prophylaxis. are ineffective may prolong the excretion of bacteria in stools In gastroenteritis, death is from can be associated with side-effects dehydration; its prevention or correction is add unnecessarily to cost the mainstay of treatment focus attention away from oral rehydration. Postgastroenteritis syndrome Antibiotics Antibiotics are not routinely required to treat gastro­ Infrequently, following an episode of gastroenteritis, enteritis, even if there is a bacterial cause. They are the introduction of a normal diet results in a return 248 only indicated for suspected or confirmed sepsis, extra- of watery diarrhoea. In such cases, oral rehydration intestinal spread of bacterial infection, for salmonella therapy should be restarted.  Incidence in clinical symptoms, has been about 1 in 3000 in Europe, SA not well Summary including the UK. The age at presentation is partly defined, but influenced by the age of introduction of gluten into thought to be Gastroenteritis the diet. commoner in Results in death from dehydration of hundreds The classical presentation is of a profound malab- white, Indian, of thousands of children worldwide every year. sorptive syndrome at 8–24 months of age after the and 'coloured' Is mostly viral, but it can be caused by introduction of wheat-containing weaning foods. children Campylobacter, Shigella, and Salmonella and There is faltering growth, abdominal distension and other organisms. buttock wasting, abnormal stools, and general irrita- Gastroenterology Infants are particularly susceptible to bility (see Case History 14.3). However, this ‘classical’ dehydration. form is no longer the most common presentation and Dehydration is assessed as no clinical children are now more likely to present less acutely in dehydration, clinical dehydration or shock later childhood. The clinical features of coeliac disease according to symptoms and signs, but clinical can be highly variable and include mild, non-specific assessment of severity is problematic. gastrointestinal symptoms, anaemia (iron and/or Oral rehydration solution is the mainstay of folate deficiency) and growth faltering. Alternatively, it treatment and usually effective; intravenous is identified on screening of children at increased risk fluid is only required for shock or ongoing (type 1 diabetes mellitus, autoimmune thyroid disease, vomiting or clinical deterioration. Down syndrome) and first-degree relatives of individu- als with known coeliac disease. The introduction of highly sensitive and specific serological screening tests, anti-tTG (immunoglobu- lin A tissue transglutaminase antibodies) and EMA (endomysial antibodies)) has provided evidence that Malabsorption coeliac disease is much more common than previously thought and as many as 1 in 100 UK school-age chil- Disorders affecting the digestion or absorption of dren may be antibody positive, but a large proportion nutrients manifest as: of these children will be asymptomatic. abnormal stools poor weight gain or faltering growth in most but Diagnosis not all cases specific nutrient deficiencies, either singly or in Although the diagnosis is strongly suggested by posi- combination. tive serology, confirmation depends upon the demon- In general, parents know when their children’s stools stration of mucosal changes (increased intraepithelial have become abnormal. The true malabsorption stool lymphocytes and a variable degree of villous atrophy is difficult to flush down the toilet and has an odour and crypt hypertrophy) on small intestinal biopsy that pervades the whole house. In general, colour is a performed endoscopically followed by the resolu- poor guide to abnormality. Reliable dietetic assessment tion of symptoms and catch-up growth upon gluten is important. It is inappropriate to investigate children withdrawal. for malabsorption as a cause of their faltering growth Although there is no place for the empirical use of a when dietary energy intake is demonstrably low and gluten-free diet as a diagnostic test for coeliac disease, other symptoms are absent. Some disorders affect- strongly positive serological tests such as anti-tTG and ing the small intestinal mucosa or pancreas (chronic EMA in symptomatic individuals may make the need pancreatic insufficiency) may lead to the malabsorp- for biopsy confirmation unnecessary in a small propor- tion of many nutrients (pan-malabsorption), whereas tion of children following assessment by a paediatric others are highly specific, e.g. zinc malabsorption in gastroenterologist. acrodermatitis enteropathica. Coeliac disease Management Coeliac disease is an enteropathy in which the gliadin All products containing wheat, rye, and barley are fraction of gluten and other related prolamines in removed from the diet and this results in resolution wheat, barley, and rye provoke a damaging immu- of symptoms. Supervision by a dietician is essential. nological response in the proximal small intestinal In children in whom the initial biopsy or the response mucosa. As a result, the rate of migration of absorptive to gluten withdrawal is doubtful, a gluten challenge cells moving up the villi (enterocytes) from the crypts may be required in later childhood to demonstrate is massively increased but is insufficient to compensate continuing susceptibility of the small intestinal mucosa for increased cell loss from the villous tips. Villi become to damage by gluten. The gluten-free diet should be progressively shorter and then absent, leaving a flat adhered to for life. Non-adherence to the diet risks the mucosa. It is a relatively common disorder occurring in development of micronutrient deficiency, especially 1% of the population. osteopenia, and there is a small but definite increased The incidence of ‘classical’ coeliac disease, diag- risk in bowel malignancy, especially small bowel 249 nosed in childhood on the basis of characteristic lymphoma.  Case history 14.3 ‘Classical’ coeliac disease This 2-year-old boy (Fig. 14.12a) had a history of poor villous atrophy (Fig. 14.12c, d) and he was started on a growth from 12 months of age (Fig. 14.12b). His parents gluten-free diet. Within a few days, his parents com- had noticed that he tended to be irritable and grumpy mented that his mood had improved and within a 14 and had three or four foul-smelling stools a day. A month he was a ‘different child’. He subsequently duodenal biopsy at 2 years of age showed subtotal exhibited good catch-up growth. 18 Gastroenterology WEIGHT 99.6th (kg) 98th 16 91st 75th 14 50th 25th 12 9th 2nd 0.4th 10 8 Duodenal biopsy 6 Gluten-free 4 diet 2 0