Inspection

Palpation

Look at the child’s face while palpating the abdomen. Start palpating at a point furthest away from any tenderness (see Figure 13.1). A reluctant child may be put at ease if their own hand is used, with the examiner ‘s hand overlying.

Figure 13.1 Anatomical landmarks on abdominal palpation.

Feel for any tenderness. Is there any rebound tenderness or guarding?

Identify any enlargement of the liver, kidneys or spleen. The liver should be felt for along a path from the right iliac fossa to the right hypochondrium. The spleen should be felt for on a path from the right iliac fossa to the left hypochondrium. It is common to feel the liver edge and the tip of the spleen in younger children. Many children have a more prominent liver edge with concurrent respiratory disease as hyperinflation pushes the liver down.

The lower pole of each kidney may be felt by palpating with both hands – one behind the flank pressing forwards towards the other.

Feel for other masses. Commonly, faeces are palpable in the left iliac fossa. Constipation is common, and may be associated with tenderness over the caecum due to gaseous distension. In severe constipation the whole lower abdomen may be distended.

Percussion

Percussion can be useful in delineating the edge of the liver or spleen and in examining for ascites.

Auscultation

Listen for bowel sounds in the acutely unwell child.

Rectal examination in childhood

This is never a routine examination and is rarely helpful. Careful thought must be given to undertaking this examination in any child.

Assessment of growth

Well infants are often weighed regularly to reassure parents and professionals. Results are recorded in the Personal Child Health Record – usually a red book in the United Kingdom.

Failure to gain weight is a cause of stress and anxiety. Infants may take up to 14 days to regain their birth weight. Failure to regain birth weight by 14 days, or a loss of over 10% of birth weight, needs assessment. Birth weight usually doubles by 4 months and trebles by 12 months. Review the child’s growth in length, head growth and weight gain. Failure to grow in any of the parameters is of concern, but weight loss needs urgent investigation at any age. A child whose weight crosses two centile lines is ‘failing to thrive’ and nutritional, physical or psychological causes should be sought.

Breast-feeding

There is no doubt that ‘breast is best’ and with the correct support, advice and encouragement the majority of babies will thrive on breast-feeding until at least 6 months of age. The milk is easily digested with low antigenicity and anti-infective properties. Breast-feeding is good for mother–child bonding, is convenient and is free. Moreover, breast milk tastes different from day to day, reflecting the mother’s diet, and this is associated with improved diversity of food intake, particularly vegetables, when weaning is underway.

Problems and contraindications to breast-feeding are very few (see Table 13.3).

Table 13.3 Problems with breast-feeding

Breast-fed babies feed ‘on demand’. This will be at least every 2–3 hours for the first few weeks, gradually increasing to every 3–4 hours by day and 6–8 hours overnight by a few months of age. Babies who are getting enough breast milk settle after feeds, have 6–8 wet nappies per day, tend to pass soft stool quite often – after every feed possibly – and exhibit satisfactory weight gain.

Breast milk is nutritionally complete for term infants until at least 6 months of age. Mothers who are unable or choose not to breast-feed directly should be actively encouraged to express. Expressing should be started as soon as possible after delivery to take advantage of the normal physiological changes that occur after the birth.

Bottle-fed infants should be fed on demand. To start with, a term infant will take 50–70 mL, 7 or 8 times per day, increasing to 180–220 mL, 5 times per day by 3 months of age. Various teats are available, different types suiting different babies.

Alternative milks

Cow’s milk-based formulae are modified to resemble breast milk as closely as possible. Standard formulae are 40% casein plus 60% whey, and those marketed for the ‘hungrier infant’ are 80% casein plus 20% whey. Standard formulae are suitable for up to 12 months of age and the casein-based feeds have no proven benefit. Soy milks are not recommended under 6 months of age due to concern about levels of naturally occurring plant oestrogens. Furthermore, 20% of infants with cow’s milk allergy show cross-reactivity with soy protein.

Goat or sheep milk is not recommended due to high solute load, similar immunogenic potential to cow’s milk and concerns about sterility.

Hypoallergenic formulae are recommended for infants with milk allergy or those considered at risk of developing it. They are either highly hydrolysed cow’s milk (hydrolysed feeds) or composed of amino acids (elemental feeds).

Infant weaning

Weaning should be commenced by 6 months of age, even if the baby was born prematurely. Some hungrier infants may benefit from earlier weaning, but this should not be instituted before 4 months of age. Renal and gastrointestinal immaturity means earlier weaning is inadvisable, and delaying longer may increase the risk of feeding difficulties. The World Health Organization guidelines suggest exclusive breast-feeding until 6 months, which is appropriate for developing countries where risk of infection is greater.

Weaning foods should be introduced gradually, with a new one every few days, and starting with very simple vegetable purees or baby rice. The complexity and range of tastes and textures are gradually increased. There should be no added salt or sugar; gluten and eggs may be introduced from 6 months. Cow’s milk is not used as the main drink until 1 year of age but it may be incorporated into solids from 6 months. It is recommended that full-fat milk is given until at least 2 years of age. Alternative formula milks (‘follow-on’ milks) are available with higher levels of iron, vitamin D and protein content, but infants eating a range of solids do not need them.

Vitamins

Vitamin deficiency syndromes are uncommon in the developed world except for children with malabsorption. Vitamin A deficiency is still the most important cause of blindness in the world. Vitamin A supplementation can also reduce the risk of death from infectious disease.

Vitamin D deficiency causes rickets. Although frank rickets is rare, there has been a resurgence of vitamin D deficiency in the UK, with dark-skinned children from ethnic minorities at especially high risk. In November 2010, the US Institute of Medicine recommended routine vitamin D supplementation (200–800 units daily) throughout life for those living at northern latitudes, such as the UK. Eighty to ninety per cent of vitamin D is derived from sunlight exposure, but in Britain this is possible only between March and September, when the sun is high in the sky. Covering-up, or use of high factor sun blocks (factor 30 or more), will abolish photosynthesis of vitamin D. Dietary sources of vitamin D are oily fish (such as sardines, tuna, pilchards, etc.), eggs and fortified foods such as breakfast cereals and some margarines. Children may present with neurological features of hypocalcaemia, or with failure-to-thrive and hypotonia, or with weak bones manifesting as knock-knees or bow legs. Lassitude, bone pain and myalgia are common with less severe degrees of deficiency.

Iron deficiency

Iron deficiency is common and may have developmental, educational and growth consequences. Toddlers with iron deficiency show impaired development, relative to their peers. Iron deficiency is associated with impaired appetite, further compounding the iron deficiency through reduced dietary intake. Severe iron deficiency may be associated with pica, which is characterized by consumption of non-food items, such as earth. Simple iron deficiency without significant anaemia will respond to dietary measures. Foods high in iron include meat, fish and poultry, fortified breakfast cereals and, to a lesser degree, dark green vegetables, peas and beans. Vitamin C (in foods, fruit juice or many child squash drinks) will increase iron absorption.

Iron deficiency is a feature of a range of gastrointestinal disorders, notably gastro-oesophageal reflux disease (GORD), coeliac disease and inflammatory bowel disease, due to impaired food intake, impaired iron absorption and blood loss.

Obesity

Obesity is a rapidly growing problem for children, their families and society. The 2008 Health Survey for England reported an obesity rate of 19.5% for children aged 11–15 years. Children living in poverty, from urban areas or from ethnic minority groups are at especially high risk of obesity. In the vast majority there is a simple imbalance between energy ingestion and energy expenditure. Factors contributing include high-energy snacks and fast foods, tendency for larger portion sizes, decreased levels of activity amongst children at school and social and cultural pressures. Children with simple obesity are usually tall for their age. Children who are growing poorly may have an endocrine cause for their obesity (Cushing’s syndrome, hypothyroidism or growth hormone deficiency – see Chapter 12).

Children with physical and/or learning disability are at increased risk of obesity. This is primarily a consequence of reduced ability to engage in physical activity, and, in some, is compounded by increased appetite. In rare instances, obesity is a characteristic of the underlying condition, notably Prader–Willi syndrome (see Chapter 18, p. 274).

Education about the short- and long-term risks of obesity, and constructive advice on diet and exercise, are important, but it needs to include other family members. Support groups may help. Drugs are rarely appropriate. The aim is to maintain weight, rather than weight loss, whilst growth in height continues.

Parenteral nutrition

Intravenous feeds containing carbohydrate, fat, protein, minerals, vitamins and trace elements are used primarily as an adjunct to enteral feeds or short-term replacement for those who cannot tolerate enteral feeds, e.g. after bowel surgery. Five to ten per cent of children will have complications from the intravenous feeding line, including sepsis, blockage and embolism. Progressive impairment of liver function may occur with long-term parenteral nutrition, and may culminate in cirrhosis and liver failure.

Gastro-oesophageal reflux

Simple gastro-oesophageal reflux (as in Case 13.1) is usually a benign disorder which resolves spontaneously between 6 and 12 months of age as infants spend more time upright, solids are introduced, and natural anti-reflux mechanisms develop. Reassurance is the mainstay of treatment. Parents can try smaller volumes of milk, given more frequently, and positioning the infant with head elevated after feeds. Feed thickeners may help.

Less commonly, reflux is severe – GORD – and infants may fail to thrive. Oesophagitis is characteristic. Reflux is commonly troublesome in infants with cerebral palsy, bronchopulmonary dysplasia and milk intolerance.

Pyloric stenosis

Pyloric stenosis (Case 13.2) describes a pathological thickening of the pyloric sphincter, which hypertrophies over the first few weeks of age. This causes obstruction of the gastric outlet. It affects 1 in 150 males and 1 in 750 female infants. It is more common in first-born children and in those with an affected parent.

Diagnosis can be made by a ‘test feed’. The hypertrophied muscle is palpable during a feed. Visible gastric peristalsis may be seen through the abdominal wall. Ultrasound (or less commonly now, barium examination) will confirm the diagnosis. The loss of large amounts of hydrochloric acid from the stomach leads to high plasma bicarbonate and chloride deficiency (hypochloraemic alkalosis).

Restoration of fluid and electrolyte balance is needed before pyloric stenosis is corrected by Ramstedt’s pyloromyotomy. This involves longitudinally dividing the pyloric muscle, but not the mucosa, under general anaesthetic. Infants usually tolerate milk within a few hours of the operation.

Bilious vomiting in infancy

Bile-stained vomiting, as in Case 13.3, is an indicator of serious surgical pathology, and requires urgent assessment. Abdominal X-rays may reveal evidence of obstruction with fluid levels and dilated small or large bowel, or may show a displaced caecum indicating malrotation, as in this case. Upper or lower gastrointestinal contrast studies will clarify the picture. This congenital anomaly results in the mid-gut twisting on its mesentery, causing a volvulus, and potentially infarction from the mid-duodenum to the mid-transverse colon.

Congenital intestinal atresias most commonly affect the small bowel, particularly the duodenum. A significant number of affected infants have Down syndrome. Treatment is with resection of the atretic segment (see also Chapter 17, p. 260).

Hirschsprung’s disease occurs due to congenital absence of ganglion cells in the intramuscular and submucous layers of the large intestine, extending proximally from the anus. The affected bowel does not exhibit peristalsis, and proximal obstruction or enterocolitis (severe diarrhoea and abdominal distension) may occur. In the first instance, treatment is with a colostomy proximal to the aganglionic bowel (determined by intra-operative histology of ‘frozen sections’), followed later by restoration of bowel continuity, with a ‘pull-through’ procedure, typically around 1 year of age. Children with Down syndrome (see Chapter 18, p. 273) are also at greatly increased risk of Hirschsprung’s disease.

Rarely, if only a very short segment of aganglionic bowel is present, the main symptom is constipation (see below); however, in this case, symptoms will be present from very early life, usually from the neonatal period.

Strangulated hernias may also produce bilious vomiting secondarily to intestinal obstruction.

Feeding problems

A careful history will usually establish the cause and exclude straightforward overfeeding. Infants with nasal obstruction and palate problems may feed messily, take in excess air, and vomit. Irritable babies may gulp feeds and vomit. Milk intolerance may cause vomiting, with or without diarrhoea and pain (see below).

Gastroenteritis

Gastroenteritis (as in Case 13.4) is a common infectious disease. Most cases are viral, and rotavirus causes over 50% of cases. Bacterial causes include Salmonella, Campylobacter, Escherichia coli and Shigella, and may cause a dysentery-like picture, with blood and pus in the stool, and high fever, commonly with abdominal pain. However, abdominal pain is not usually a prominent feature in viral gastroenteritis. Infection with E. coli O157 may lead to gastroenteritis complicated by acute renal failure (see Chapter 11, p. 135).

Intussusception

Intussusception (Case 13.5), in which the bowel partly invaginates, leading to ischaemia, characteristic ‘redcurrant jelly stools’ and severe episodes of pain with pallor, and vomiting, often causes diagnostic confusion. The highest incidence is seen around 6–9 months of age.

It may mimic gastroenteritis, and even meningitis because of obtundation. Children may be dehydrated or shocked. Sometimes an identifiable lead point is found at the point of intussusception such as a polyp, Meckel’s diverticulum, or enlarged Peyer’s patch. This occurs more commonly in older children.

The infant may appear well between episodes of pain. The diagnosis might be suggested on abdominal X-ray, and has a characteristic ultrasound appearance. The intussusception may usually be reduced by a contrast enema using air or liquid contrast medium. This should be performed in a paediatric surgical centre. Surgery is indicated for failed reduction (25%), perforation or recurrence (4–10%).

Systemic disease

Almost any systemic disease can present with vomiting, including upper respiratory tract infection (URTI), raised intracranial pressure, urinary tract infection and metabolic and psychological disorders. Always examine the child carefully, and obtain a clean-catch urine sample.

Acute appendicitis

The boy in Case 13.6 had acute appendicitis and surgery was performed as soon as possible. Where possible, emergency surgery is avoided. Trials are under way investigating antibiotic treatment in acute appendicitis, with a view to avoiding or deferring surgery. The history described is typical but it can be difficult, especially in preschool children, or if the appendix is unusually sited. Ultrasound or CT scanning may be required. Other causes of acute abdominal pain must be considered – see Box 13.1 and Table 13.4.

Table 13.4 Other causes of recurrent abdominal pain

Infantile colic

In Case 13.7, if the history and examination reveal no worrying features it is highly likely that the baby has colic.

Colic is excessive crying in a healthy infant that starts within the first few weeks of life and lasts until around 4–5 months. Strictly speaking, this means at least 3 hours of crying a day, 3 days a week for at least 3 weeks, but is used much more loosely to cover crying that parents perceive to be unacceptable. The cause of colic is not known but painful peristalsis, trapped wind, lactose intolerance, dietary protein intolerance and parental anxiety have all been suggested. It has also been regarded as a behavioural pattern with no pathology.

There is no evidence that herbal remedies, gripe water or simeticone reduce colic. In bottle-fed babies a 1–2 week trial of a cow’s milk protein-free formula may be of benefit. Reassurance is vital. Acknowledge how stressful the crying is and that it will improve with age.

Non-specific abdominal pain

Abdominal pains like those in Case 13.8 affect 10% of children and can have a variety of labels including NSAP (non-specific abdominal pain), functional abdominal pain and sensitive bowels. Many children will have no worrying features in the history, or on examination, and do not require investigations. In others, inflammatory bowel disease, food intolerances or other causes (see Table 13.4) may need to be excluded.

Current hypotheses suggest that there may be disordered motility or perception of motility. However, many parents accept that occasional abdominal pains are stress related. Careful history, examination and reassurance are often sufficient, and the pains may respond to simple remedies like paracetamol or hot-water bottles. Some of the children are more anxious than their more care-free (and pain-free) peers. The stresses in their lives are usually common ones, such as trying to work in a noisy classroom and arguments with friends. Do not forget to ask about bullying, but do not assume that all children with pain are facing a huge problem in their lives. About half of these abdominal pains settle within a few months. In some, the pains can be recurrent and a proportion will go on to develop typical features of irritable bowel syndrome.

Mesenteric adenitis

Central abdominal pain which is associated with tenderness occurring at the same time as a URTI is often labelled as mesenteric adenitis. It is thought to be due to inflamed mesenteric lymph nodes with a peritoneal reaction, although pathological evidence of this is often lacking. Episodes of pain may be recurrent.

Toddler diarrhoea

Loose or variable texture stools may be passed 3–5 times per day in well 1–3 year olds who are unaware or untroubled by it. This is very common. Also called ‘peas and carrots diarrhoea’, identifiable food in the stools is a characteristic that can cause alarm to parents. In some, investigations may be necessary. It is due to rapid gastrointestinal transit. Triggers may be high-fibre foods such as wheat biscuit breakfast cereals, fruit juices, and sometimes an inadequate fat intake, due to mistaken use of ‘healthy’ low-fat foods, which are inappropriate for young children. It is a benign condition and most children grow out of it by school age. A careful history and examination will exclude coeliac disease, food allergy and sugar intolerance in most cases.

Food intolerance

Food intolerance may be caused by allergy (e.g. cow’s milk protein), immune-mediated disease (e.g. coeliac disease), enzyme deficiency (e.g. lactose intolerance), or chemical irritation (e.g. chillies).

Allergy

Cow’s milk protein allergy is the most common food allergy, but allergic reactions can develop to other antigenic proteins including soya, eggs, peanuts, tree nuts, cereals and fish. Risk of allergic reactions increases if there is a strong family history of atopy. Symptoms may include urticaria, stridor, anaphylaxis, vomiting, diarrhoea, abdominal pain and behavioural changes.

Investigations are rarely of value although eosinophilia, raised food-related blood IgE levels or positive skin prick tests may be found. A therapeutic trial of food withdrawal, with symptoms recurring on subsequent challenge, is the gold standard for diagnosis.

Management is to strictly exclude offending antigens from the diet. Twenty per cent of children with cow’s milk protein intolerance also develop symptoms with soya, so hypoallergenic formulae are advised. Most children will outgrow the allergy by 2–5 years, although in a very few it is lifelong. If there is a history of severe allergic reactions, particularly anaphylaxis, food challenges should be carried out in hospital.

Sugar intolerance

Sugar intolerance is due to enzyme defects, and fermentation of undigested sugars causes explosive frothy stools with flatus, with or without abdominal pain and distension. Lactase deficiency is the most common cause and is usually transient (after severe gastroenteritis or untreated coeliac disease), or is due to a progressive fall in lactase production (common in non-Caucasians who have increasing intolerance with age). Very rarely, it may be congenital, when it is inherited as an autosomal recessive trait.

Coeliac disease

Coeliac disease is a small-bowel enteropathy due to intolerance to the protein gluten in wheat, barley, rye and possibly oats. It can occur at any time after the introduction of gluten into the diet. There is a very strong genetic susceptibility. The disease affects between 1 in 300 and 1 in 1000 people. The risk is higher with a family history, autoimmune disorders, such as type 1 diabetes and in Down syndrome.

Coeliac disease may be broadly classified according to clinical presentation:

Most infants and children with coeliac disease present with typical symptoms, including diarrhoea, which is typically pale, fatty, offensive and ‘porridge-like’ in nature. The clinical appearance is characteristic (see Figure 13.2). Other symptoms are described in Table 13.6.

Figure 13.2 (a) Severe buttock-wasting secondary to coeliac disease. (b) Abdominal distension secondary to coeliac disease.

Table 13.6 Symptoms of coeliac disease

Coeliac disease is a permanent condition and should not be confused with transient wheat or gluten intolerance, which may occur in children under 2 years, especially after gastroenteritis.

According to new European guidelines published in January 2012, a typical presentation, in conjunction with a strongly positive coeliac screen (IgA anti-tissue transglutaminase greater than 10 times the upper normal limit, with positive anti-endomysial antibodies and HLA-DQ2 or DQ8 heterodimers), coupled with a clinical and biochemical response to a gluten-free diet, is taken to be diagnostic of coeliac disease. Where the clinical picture is less clear-cut, an upper small bowel biopsy is required for confirmation. Typical histology shows subtotal villous atrophy with increased lymphocytes in the lamina propria and epithelium.

The management of coeliac disease is with a strict gluten-free diet, excluding all wheat, rye and barley. Oats may be tolerated later but are usually excluded to begin with. Staple foods can be prescribed by GPs. Support of a paediatric dietitian is essential, and the Coeliac Society is an invaluable source of up-to-date information on gluten-free products. Non-compliance with diet risks malabsorption, with growth stunting, and loss of key micronutrients, osteoporosis, female infertility and small bowel lymphoma.

Crohn’s disease

Crohn’s disease affects 1 in 1000 adults, 1 in 4 of whom present in adolescence. It causes an inflammation of the whole bowel wall (transmural involvement), anywhere from mouth to anus, with the terminal ileum being most often affected. It is believed that Crohn’s disease arises from an abnormal immune response to bacterial antigens in the intestine, in a susceptible patient. Over 30 genetic susceptibility loci have been identified for Crohn’s disease. These loci encode genes involved in lymphocyte differentiation, maintenance of epithelial barrier integrity, autophagy and the secondary immune response. The NOD2/CARD15 gene on chromosome16q12 is one of the most important. This gene encodes an intracellular monocyte protein important in recognition and processing bacterial antigens (‘innate pattern recognition’). Mutations in this gene are present in approximately 30% of individuals with Crohn’s disease.

The presentation is often delayed with non-specific symptoms such as growth failure, delayed puberty, anorexia, poor concentration, lethargy, malaise and deteriorating school or sport performance. If colitis is present, diarrhoea and abdominal pain may be a feature. Examination may show evidence of malnutrition, linear mouth ulcers and perianal skin tags. Tenderness or abdominal masses are variable. Inflammatory markers such as ESR (erythrocyte sedimentation rate) or CRP (C-reactive protein) usually parallel disease activity, but the nature and extent of inflammation need to be demonstrated. This requires upper gastrointestinal endoscopy and colonoscopy with biopsy.

Management begins with induction of remission using nutritional therapy (elemental or hydrolysed feed and food exclusion) or systemic steroids. On-going maintenance treatment with 5-aminosalicylate derivatives (Salazopyrin [sulfasalazine], mesalazine), immunosuppression (azathioprine, methotrexate) or biological therapy (monoclonal anti-TNF-α) may be needed. Surgery should be avoided whenever possible but may be needed for complications such as obstruction, fistulas or failed medical treatment. Typically, the course is relapsing into and throughout adult life, and ultimately 80% of Crohn’s patients require surgery.

Ulcerative colitis

Ulcerative colitis is rarer than Crohn’s disease in children, but the disease is more likely to be a pan-colitis, in contrast to adults. Ulcerative colitis typically presents with cramping abdominal pain with diarrhoea containing blood and/or mucus. Urgency of stool is often a feature and may be very distressing. Anorexia, weight loss or extra-intestinal manifestations may be present such as erythema nodosa, arthritis, liver disease or eye lesions. Upper gastrointestinal endoscopy and colonoscopy and biopsy are required to confirm the diagnosis and exclude Crohn’s disease. Typical colonic histology shows mucosal inflammation with crypt abscesses and goblet cell depletion.

Treatment involves the induction of remission with systemic steroids. This is followed by maintenance treatment with 5-aminosalicylate derivatives, low-dose steroids or immunosuppression (azathioprine, methotrexate). Total colectomy may be needed for complications such as toxic megacolon, haemorrhage or failed medical treatment. Surveillance colonoscopy is performed annually when disease has been active for 10 or more years to reduce the very real risk of colorectal carcinoma.

Congenital causes of jaundice

Bilirubin arises from breakdown of haem. It is metabolized in the liver by the glucuronyl transferase enzyme system to the conjugated form that is excreted in bile. Defects of this enzyme system result in unconjugated hyperbilirubinaemia. Severe defects, due to autosomal recessive inheritance, result in Crigler–Najjar syndrome with extremely severe jaundice occurring at birth, and often resulting in choreo-athetoid cerebral palsy (kernicterus) (see Chapter 14, p. 197). Gilbert’s syndrome arises from a mild conjugation defect, resulting in intermittent mild jaundice with fatigue, usually triggered by illness. It is relatively common, and harmless. Conjugated hyperbilirubinaemia occurs in Dubin–Johnson and Rotor syndromes, which are due to defective hepatic excretion of conjugated bilirubin. Aside from jaundice, patients are usually asymptomatic.

The infant with obstructive jaundice

The young infant with obstructive jaundice (as in Case 13.10) requires urgent evaluation to exclude biliary atresia. In biliary atresia there is progressive obliteration of the extra- and intra-hepatic bile ducts, leading to hepatocellular injury, with cirrhosis and portal hypertension. Surgery to construct a bile conduit (Kasai procedure) is performed as soon as possible. If surgery is unsuccessful, then liver failure results, requiring liver transplantation. If bile drainage is achieved, then the progression of liver disease may be slowed, although ascending cholangitis, malnutrition due to fat malabsorption, and portal hypertension leading to oesophageal varices and consequent gastrointestinal haemorrhage are common complications.

The differential diagnosis of obstructive jaundice includes congenital choledochal cyst affecting the extrahepatic biliary tree, and neonatal hepatitis. Neonatal hepatitis presents with prolonged obstructive jaundice and evidence of hepatocellular dysfunction. It is usually idiopathic, but infective, endocrine and metabolic causes – notably galactosaemia and alpha-1-antitrypsin deficiency – must be excluded.

Galactosaemia (Case 13.11) results from an inability to metabolize galactose. Toxic metabolites accumulate with resultant hepatic and renal toxicity and cataracts. High levels of galactose-1-phosphate provide an ideal substrate for E. coli sepsis, which complicates half of cases. It is treated by elimination of all sources of lactose and galactose, which includes breast and bottled milks. This rare condition is inherited in an autosomal recessive manner. Despite early treatment, learning difficulties are common, notably verbal dyspraxia (see Chapter 4, p. 30). Girls are almost always infertile due to premature ovarian failure. Cataracts may occur, due to accumulation of the galactose metabolite, galactitol, in the lens of the eyes, and ophthalmological surveillance is required.

Hepatitis

Obstructive jaundice in childhood

Obstructive jaundice in older children is seen with choledochal cyst (see above), and gall stones secondary to chronic haemolysis or hypercholesterolaemia. Children requiring long-term parenteral nutrition are at high risk of progressive liver disease and resultant liver failure.

Fulminant hepatic failure

Fulminant hepatic failure (FHF) is fortunately rare, and manifests with encephalopathy, hepatocellular dysfunction (impaired coagulation, hypoalbuminaemia with oedema, acidosis, hypoglycaemia), renal failure and sepsis. The commonest cause in the UK is paracetamol poisoning (see Appendix I, p. 299), followed by fulminant viral infections. Other causes include metabolic diseases such as Wilson’s disease, Reye’s syndrome and disorders of fatty acid metabolism.

Wilson’s disease is an autosomal recessive disorder presenting with severe liver disease, typically FHF, or in teenagers with neurological manifestations.

Reye’s syndrome is an idiopathic acute encephalitis with liver failure and renal damage. Aspirin and salicylate-containing medication increases risk, and should not be given to children under the age of 16 years.