Ebook Practical paediatric problems: Part 2

373 82 0
Ebook Practical paediatric problems: Part 2

Đang tải... (xem toàn văn)

Tài liệu hạn chế xem trước, để xem đầy đủ mời bạn chọn Tải xuống

Thông tin tài liệu

(BQ) Part 2 book “Practical paediatric problems” has contents: Gastrointestinal system, hepatic and biliary problems, urinary tract problems, urinary tract problems, paediatric ophthalmology, surgical topics, tropical paediatric medicine,… and other contents.

Chapter 10 Gastrointestinal system, hepatic and biliary problems Peter Gillett EMBRYOLOGY OF THE GASTROINTESTINAL TRACT The gastrointestinal tract comprises all components from mouth to anus In the fourth week of gestation the primitive yolk sac divides into the primitive gut and yolk sac These are in continuity until the seventh week when the vitelline duct is obliterated The gut comes from the dorsal aspect of the yolk sac The primitive gut has three parts: foregut, midgut and hindgut The mouth is derived from stomodeum, which is lined with ectoderm, and the proximal portion of the foregut, which is endodermal in origin The foregut gives rise to the pharynx, oesophagus, stomach and duodenum down to the ampulla of Vater and the liver and pancreaticobiliary system The duodenum is composed of distal foregut and proximal midgut The duodenal loop forms by way of rightward rotation and the classic C-loop forms with the ligament of Treitz fixing the terminal duodenum (fourth part) The liver buds off the distal foregut (second part of the duodenum) The pancreas develops from two buds: a dorsal and a ventral bud of endodermal cells from the foregut Gut rotation causes the buds and ducts to fuse, forming the main pancreatic duct that joins the common bile duct and enters the second part of the duodenum The midgut comprises the distal duodenum, small bowel and colon to the proximal third of the transverse colon The growing abdominal organs squeeze the gut out of the abdominal cavity at weeks’ gestation, and it herniates into the extraembryonic cavity (or coelom) At the end closest to the head (cranial) the gut will become small bowel The caudal limb forms the caecum and colon A diverticulum forms, which will become the caecum and appendix The cephalic limb of the midgut forms the jejunum and ileum The caudal part becomes the distal ileum, caecum, ascending colon and proximal two-thirds of the transverse colon When outside the embryonic cavity, the gut rotates counterclockwise through 90° (viewed from the anterior aspect of the embryo) In the third month, the cavity is able to accommodate the bowel again and the gut returns to the abdomen The head end returns with the jejunum first, ending high on the left of the embryo, followed by the ileum which lies in the left side of the cavity The caudal limb then returns and lies above and in front of the future jejunum and ileum During this return, the gut loop rotates another 180° counterclockwise, again looking from the anterior position Rotation is a total of 270°, leaving the caecum and appendix in initial close proximity to the liver, but later descending into the right iliac fossa The hindgut structures are the distal transverse colon, descending, sigmoid colon rectum and the upper half of the anal canal The hindgut terminates as a blind-ending sac, in contact with the proctodeum, an ectodermal depression These apposed layers comprise the cloacal membrane The bladder forms anteriorly and the urogenital sinus and posterior cloaca form the anorectal canal The anorectal canal forms the rectum and upper aspect of the anal canal The lower canal is formed from the ectodermal tissue of the proctodeum and this posterior part of the cloacal membrane breaks down to form the anal opening Many congenital anatomical abnormalities are explained by the failure of proper development (particularly malrotation) INVESTIGATIVE PROCEDURES FOR GASTROINTESTINAL DISEASE Relevant blood and stool investigations for specific conditions are discussed in the appropriate sections Percutaneous liver biopsy Children who have acute or chronic liver disease may need to undergo a biopsy Platelets should be over 60 000, 310 Gastrointestinal system, hepatic and biliary problems prothrombin time should be no more than seconds above control and a group and save performed Fresh frozen plasma (FFP) and/or platelet cover may be required Ultrasound examination is carried out to exclude grossly dilated ducts, vascular malformations, cysts or abscesses, which are contraindications and many use real-time ultrasound guidance Complications include bleeding, perforation, pneumothorax, haemopneumothorax and local infection The children may be kept overnight for observation, nursed on their right side for the first four hours, but after four to six hours, the risk of bleeding is very small The biopsy is usually taken with the patient on their back, right arm above the head at the point of maximal dullness on percussion, usually at the seventh to tenth intercostal space, mid-axillary line, but it can also be done from an anterior approach This can be performed under sedation and local anaesthesia or under a quick general anaesthetic depending on local preferences The present author uses a disposable Hepafix® needle, which is a variation of the Menghini (a hollow coring needle) The Trucut® needle is also used The breath is held in endexpiration and the needle quickly advanced to a predetermined depth and withdrawn The core is flushed out of the needle into a container containing formalin Transjugular liver biopsy Where percutaneous biopsy is contraindicated because of uncorrectable coagulopathy, the transjugular route (internal jugular) is employed, usually by radiologists, using a catheter with needle to biopsy the liver from within (hepatic vein) It is not dependent on coagulation results as bleeding occurs into the vascular system Transjugular liver biopsy is taken in children with prothrombin time prolonged over seconds despite vitamin K, FFP or cryoprecipitate support Jejunal biopsy The original Crosby–Kugler capsule in adults was modified for children, but this technique has been superseded by endoscopy It involved a metal capsule with a suction port and tubing being passed down to the jejunum and suction applied thus firing an internal cutting device and the sample retained within the port Rectal suction biopsy This is used in suspected Hirschsprung disease or neuronal intestinal dysplasia A suction-aided device (a biopsy gun with a trigger) with a port is closely applied to the rectal mucosa allowing deep biopsies, including muscularis, to be taken Histological examination including acetylcholinesterase is done Biopsies for disaccharidases These can be taken endoscopically for measurement of maltase, sucrase, lactase (and trehalase) The levels are expressed as level/g of protein or wet weight of mucosa Lactase is more sensitive to intestinal inflammatory states than the other enzymes and seems to be the last to recover Measurement is usually useful in primary disorders such as congenital lactase deficiency or sucrase-isomaltase deficiency Breath testing Malabsorption of carbohydrates results in liberation of hydrogen from bacterial fermentation within the intestine The hydrogen is excreted in the breath Usually a baseline hydrogen measurement is taken and then g/kg (maximum 50 g) of the sugar to be tested is ingested in solution Lactose and sucrose are the two commonest investigations The test is dependent on the fermentation (or not) of sugar by bacteria in the colon Children blow into a plastic bag with a three-way tap for sampling and a read-out (in parts per million, PPM) is given Baseline elevations in hydrogen can be seen in small bowel bacterial overgrowth A rise of 10–20 PPM from baseline is indicative of intolerance Glucose and lactulose breath testing has been used to look for bacterial overgrowth based on the principle that fermentation and a rise in hydrogen is indicative of proliferation of fermenting bacteria Sugar loading tests Lactose is the most commonly utilized test Blood is taken for glucose estimation at half-hour intervals for two hours An increase of 1.7 mmol/L above the pretest glucose level is considered normal Of value is the clinical response to the load of sugar (symptoms of gassiness, pain, diarrhoea) Small intestinal permeability tests Two inert sugars, usually xylose or lactulose (larger sugar) and rhamnose or cellobiose (smaller sugar) are given orally, and the ratio of these sugars is measured in a timed urine collection The differential absorption gives a measure of increased intestinal leakiness (increased absorption of larger sugars) and loss of surface area (reduced absorption of smaller sugars) Investigative procedures for gastrointestinal disease Stool pH, reducing substances, chromatography Use the fluid part of a stool (the nappy should be inverted or cling film placed inside the nappy so that the whole stool can be collected and the liquid element is not wicked away) A Clinitest tablet is added to a diluted mix with water and a colour change indicates reducing substances from to per cent One per cent or more is significant A delay in getting the stool to the lab allows continued fermentation by bacteria and a false positive test Stool chromatography is used if there are significant reducing substances present and can identify patterns of sugar malabsorption which may be helpful, again dependent on which sugars are ingested However, this should be interpreted carefully Stool pH values below 5.5 are thought to be indicative of sugar intolerance 311 broken down in the small intestine by chymotrypsin and liberates para-aminobenzoic acid, which is measured in the urine The pancreolauryl test is similar where a fluorescein label is liberated by the breakdown of the parent compound by cholesterol esterase and the fluorescein is absorbed and excreted in the urine where it can be measured Blood tests (amylase, lipase) are useful in acute pancreatitis but are not helpful in chronic insufficiency as they are extremely non-specific Amylase derives from salivary glands as well as the pancreas Serum immunoreactive trypsin (IRT) using dried blood spots is employed in the detection of pancreatic insufficiency (cystic fibrosis screening) The levels are grossly elevated in the first year of life in children with cystic fibrosis with a quick decline in the second year and sub-normalization by the age of years There is wide variability in results and it is not of value in discriminating the degree of impairment Calprotectin Helicobacter pylori This white cell protein, measured in stool by enzymelinked immunosorbent assay (ELISA) can be useful in differentiating causes of diarrhoea (normal in functional diarrhoea such as irritable bowel syndrome (IBS), elevated in inflammatory bowel disease (IBD) and polyps as well as colonic cancer but also in infections) It is gaining popularity in paediatric practice and may be a useful noninvasive marker of disease activity in IBD Pancreatic function tests These are used in investigating pancreatic insufficiency, such as in cystic fibrosis or Shwachman–Diamond syndrome or recurrent or chronic pancreatitis There are indirect and direct tests of pancreatic function Direct tests measure the production of exocrine secretions under controlled conditions, with the duodenum intubated Enzyme and fluid production is assessed after stimulation with secretin/cholecystokinin Indirect tests measure the consequences of poor exocrine function, utilizing stool markers such as trypsin, chymotrypsin, elastase, lipase and faecal fat For faecal fat, a three to five day quantitative fat estimation of all excreted stools is used in conjunction with a dietary fat intake over the same time when fat malabsorption is suspected Alternatively, qualitative fat is measured either as a ‘spot’ microscopy or a steatocrit (a haematocrit tube is centrifuged and the lipid and liquid elements estimated) Breath tests are available for assessing utilization of triglycerides and starch digestion Urinary markers are also used: bentiromide is a non-absorbable peptide that is Breath testing is now commonplace for H pylori C-14-labelled urea (or the stable isotope C-13) is used and relies on H pylori’s ability to split urea into ammonia and bicarbonate, becoming C-14 or C-13-labelled carbon dioxide, excreted in the breath False positives occur in younger children due to urea-splitting organisms in the mouth Rapid H pylori blood testing kits are available for outpatient use and serology is available, often used in the outpatient setting in adult practice (the results are not as accurate in children) It is not useful for evaluating eradication as the antibodies take over a year to disappear Motility and pH probe investigation Manometry is used in investigation of motility disorders such as achalasia, oesophageal spasm and nutcracker oesophagus Colonic (mostly anorectal) manometry is helpful in the diagnosis of constipation due to motility disorders and disorders of defaecation (Hirschsprung disease, in particular, and other disorders of anorectal function) Biliary (or sphincter of Oddi) manometry, increasingly used in adult practice, is gaining interest in specialist centres Electrogastrography is also used in upper intestinal motility evaluation A series of electrodes is used over the upper abdomen to evaluate gastroduodenal peristalsis pH probe testing is a means of evaluating acid reflux in children of all ages Symptom evaluation should select out patients in whom it will be useful The probe is calibrated and placed transnasally using a standard calculation (Strobel formula) Software analyses the data stored on a recorder and gives a breakdown of important parameters 312 Gastrointestinal system, hepatic and biliary problems such as percentage time below pH (shown to correlate with development of oesophagitis), long reflux episodes (over five minutes exposure is more significant), patient position (upright, sitting, lying, sleeping), mealtimes and any episodes of heartburn or other symptoms (such as colour change, coughing, choking) marked using an event marker A diary card is used to document symptoms and activities undertaken over the 24-hour recording period Most studies are done off medications, but pH probing can help with tailoring requirements of medications as ‘on-treatment studies’ Correlation of symptoms and recording is most helpful Gastrointestinal endoscopy Over the past 30 years technology has allowed us to perform diagnostic and therapeutic procedures in the same way as for our colleagues who treat adult patients and has dramatically improved management Clearly, we approach procedures in a different way Preparation and age-appropriate explanation are important Procedures are usually day cases and in most centres in the UK are carried out under general anaesthesia; other units use sedation For procedures carried out under sedation, combinations of benzodiazepines (midazolam, diazepam) and opiates (pethidine, fentanyl) are used and agents for reversal – flumazenil and naloxone – should always be available Details of the levels of procedural skills and training competency in paediatric gastroenterology have been detailed by working groups of the British and North American Societies of Paediatric Gastroenterology, Hepatology and Nutrition and numbers and ability need to be ‘signed off’ by trainers before competency is acknowledged Antibiotic prophylaxis is used as per standard guidelines (British Society of Gastroenterology, American Society of Gastrointestinal Endoscopy, American Heart Association) Upper endoscopy is the most frequently performed examination before colonoscopy Endoscopy is possible on all but the smallest neonates Interventional procedures such as dilatation, variceal banding and sclerotherapy, injection and heater probe treatment of ulcers and cautery/laser therapy of vascular malformations, snare polypectomy and percutaneous gastrostomy (PEG) insertion and newer techniques such as endoscopic fundoplication are performed by paediatric gastroenterologists Endoscopic retrograde cholangiopancreatography (ERCP), enteroscopy and endoscopic ultrasound are imaging and investigational modalities still used mainly for adults In the author’s centre, these are performed in conjunction with colleagues who treat adult patients Capsule endoscopy, imaging the small bowel, is also available for children Radiology of the gastrointestinal tract Plain films are used to assess masses and abnormal gas and stool patterns Perforation and pneumoperitoneum can be identified, toxic dilatation seen in acute colitis, and pneumatosis intestinalis and other features of necrotizing enterocolitis Constipation can be assessed if there are doubts despite history and clinical examination In addition, stool marker studies use different swallowed radiopaque shapes and are used to determine the transit time of the colon (may help differentiate generalized slow transit through the colon from so-called outlet obstruction, seen in megarectum) The mucosa can be assessed: thickening of the bowel wall is seen in oedema arising from enteropathy, in vasculitides such as Henoch–Schönlein purpura or in ulcerative colitis Foreign bodies (pins, coins, toys, etc.) and abnormal calcification (gallstones, renal stones, etc.) are also detected Contrast studies Contrast studies are used widely to assess the upper intestine, small bowel and rarely (in paediatrics), the large bowel Barium swallow assesses the swallowing mechanism with thin and thicker liquids, frequently in association with speech and language therapists, as a videofluoroscopy, often with more textured larger items as necessary Aspiration and high-risk reflux can be documented but contrasts are neither sensitive nor specific enough to recommend as a standard test for reflux Extrinsic compression from rings and tumour masses, hiatus hernia, varices, webs and other abnormalities such as achalasia, and dysmotility disorders can also be seen The prone pullback study, where a nasogastric tube is passed and contrast trickled as the tube is withdrawn is used to assess the presence of an H-type tracheo-oesophageal fistula Barium meal may detect ulcers in stomach or duodenum and filling defects from masses as well as assessing gastric outlet obstruction and emptying Duodenal obstruction, malrotation (the duodenal C-loop usually sits to the right of the spine) and volvulus can be assessed by an upper gastrointestinal contrast Contrast studies are used to look at the small bowel, either as a follow through (SBFT) or enteroclysis (also called a small bowel enema, where the patient has a transpyloric tube passed to get contrast directly into the small bowel) Barium enema is seldom used It can be useful to determine anatomical abnormalities in neonates, to assess malrotation and to assess suspected Hirschsprung disease, often with a delayed or ‘post evac’ film done 24 hours later Polyps can be seen on lower contrast studies but would not be first choice in their investigation (colonoscopy is the Vomiting preferred method, as therapeutic removal can be performed by snare diathermy) There is little place for enema in the assessment of IBD, again, colonoscopy being the procedure of choice Therapeutic contrast studies: the main role for enema in childhood is for reduction of intussusception Air enema is the preferred choice, but carbon dioxide systems are increasingly utilized, with barium or water-soluble contrast also used in some instances Ultrasound, computed tomography and magnetic resonance imaging These imaging modalities have revolutionized paediatric gastrointestinal imaging Ultrasound allows diagnosis and follow-up of tumours, inflammatory masses, abscesses and cysts, to confirm pyloric stenosis and some cases of malrotation, to assess bowel wall thickening in inflammatory bowel disease, liver and splenic parenchymal disease and trauma It is also helpful in detection of varices and measurement of portal blood flow and the assessment of pancreatic disease Computed tomography (CT) and magnetic resonance imaging have advanced, particularly in adult practice, for the detection of polyps and other bowel cancers (so-called ‘virtual colonoscopy’) and MR studies in IBD (assessing bowel involvement and lesions in the perianal area) are increasingly used MR cholangiopancreatography has revolutionized liver and biliary imaging, reducing the need for ERCP More recently, the use of endoscopic ultrasound (with a variety of different instruments and probes) has revolutionized the detection and staging of gastrointestinal (and respiratory) cancer, allowing fine needle aspiration and biopsy of intrinsic and extraluminal tumours (lung, pancreas) Radionuclide studies Studies using 99mtechnetium-labelled milk in babies are commonly used for detection of gastro-oesophageal reflux and to assess aspiration and gastric emptying Delayed images up to 24 hours may be obtained and can be useful in assessing such complications Studies with milk or solids such as egg are often combined with reflux studies as gastric emptying is easily measured Hepatobiliary scintigraphy is used in babies for investigation of primarily cholestatic liver disease The baby is given phenobarbital mg/kg per day for five days to prime the liver and then one of the iminodiacetic acid (IDA) compounds (e.g HIDA, DISIDA or TEBIDA) injected Images are taken at intervals and excretion into the bowel for up to 24 hours is assessed Neonatal hepatitis causes diminished uptake into the liver but excretion occurs into bowel, as 313 opposed to good uptake and non-excretion in biliary atresia (and in the hypoplastic diseases) Meckel diverticulum is also detectable with 99mtechnetium-labelled pertechnetate, with priming with an H2antagonist, traditionally cimetidine This blocks acid production in the gastric tissue, which is frequently present in Meckel diverticula Uptake is detected after scanning soon after intravenous (IV) administration of the label, but false negatives occur White cell scanning is also used in some centres to detect active inflammatory bowel disease in small and large bowel, or to differentiate between active or inactive lesions, for example, a mass due to a narrowed, diseased terminal ileum Red cell scanning can detect gastrointestinal blood loss in situations where there is occult bleeding It may help localize an area for the surgeon or endoscopist to assess VOMITING Vomiting is a symptom of conditions affecting many organ systems, not just the gastrointestinal tract Vomiting itself may produce complications requiring investigation and treatment (biochemical derangements, dehydration and upper gastrointestinal bleeding) Nausea (a subjective sensation) is often followed by retching and vomiting (caused by coordinated muscle activity of pharynx, respiratory and gastric muscles that allows contents to be expelled freely without danger to the upper airway) Regurgitation is the effortless reflux of contents into the oesophagus Motor activity of the vomiting reflex is mediated via the vagus It may be acute or chronic or cyclic (episodic, recurrent) in nature Acute vomiting is usually seen in infectious gastroenteritis (along with diarrhoea and abdominal pain) or ingestion of toxic substances and is seen as a discrete episode Causes of vomiting Acute Infection (urinary tract infection) ● Ingestions ● Obstruction: congenital abnormalities: malrotation, webs, pyloric stenosis, volvulus ● Raised intracranial pressure (ICP) ● Chronic recurrent Acid reflux ● Peptic inflammation ● Infection (H pylori, Giardia) ● Ménétrier disease (H pylori, cytomegalovirus (CMV) infection) ● 314 ● ● ● ● ● ● ● ● ● Gastrointestinal system, hepatic and biliary problems Other gastritis from allergy, bile reflux Enteropathy from coeliac disease, cows’ milk or soy protein Dietary intolerances (wheat) Crohn disease Anatomical Achalasia Obstruction Superior mesenteric artery (SMA) syndrome: immobility, debility from surgery or weight loss Malignancies: both gastrointestinal and extraintestinal (raised ICP from brain tumours such as medulloblastoma) Cyclical/episodic ● Cardiovascular ● Abdominal migraine ● Neurological ● Endocrine: phaeochromocytoma ● Metabolic: medium chain acyl CoA dehydrogenase deficiency (MCAD), porphyria KEY LEARNING POINTS ● ● ● Vomiting is a symptom, often from an acute, self-limiting infection Chronic patterns require careful assessment and relevant investigation Many extraintestinal conditions present with acute or chronic vomiting ACUTE AND CHRONIC DIARRHOEA The definition of acute versus chronic diarrhoea is a continuum, usually with over three weeks duration defining chronic Diarrhoea is an increase in stool water, the overall balance between secretion and absorption of fluid It also involves an increase in stool frequency and decrease in consistency Stool volume in excess of 10 g/kg per day in babies and over 200 g per day in children over the age of years is taken to be diarrhoea The proximal small bowel is responsible for a huge amount of electrolyte and water shifts, which rapidly reduces the osmolality of the luminal contents to isoosmolar The distal small bowel and colon are responsible for most water absorption Sodium and potassium absorption and chloride and bicarbonate exchange occur by active processes, but water is absorbed passively along a gradient This fluid regulation is complex and influenced by hormones as well as bacterial toxins, enteric nervous factors, diet, disease states and bowel motility Nine litres of fluid a day passes the proximal jejunum in older children and adults This includes the secretions from stomach, duodenum, pancreas and biliary tract This reduces to L at the distal ileum The adult colon can absorb 3–4 L/day In disease states, this process is hindered and diarrhoea results Diarrhoea is broadly split into osmotic and secretory Often there is overlap in disease states but it is useful to define these CASE STUDY: Osmotic diarrhoea A 4-year-old is referred from their general practitioner (GP) with chronic diarrhoea Over the last year he has been stooling five times a day, passing a loose watery stool every time It is associated with crampy central abdominal pain, usually after eating A full history suggests that he drinks in excess of L per day of apple juice, with a glass taken with each meal and snack Discontinuation of this for a week resulted in complete resolution of his symptoms Watery diarrhoea with abdominal pain in older children strongly suggests a dietary driven problem A careful history may uncover common dietary causes of loose stools Common causes are fruit juice, diluting squashes, diet drinks, fizzy beverages, sugar-free gum and boiled sweets Milk products are also a major factor Careful elimination of any offending items may well resolve the problem Included in the differential diagnosis are infections causing mucosal injury, enteropathies, congenital sucrase/isomaltase or acquired lactase deficiency, but also laxatives such as lactulose or milk of magnesia, some vehicles for medicines, such as lactose and sorbitol, high sugar content juices (apple juice), or ‘sugar-free’ products (sugarfree gum, sweets, fizzy beverages or squash) Bile salt malabsorption can also cause osmotic diarrhoea Withdrawing the substance results in clinical improvement OSMOTIC DIARRHOEA Malabsorption of a dietary component (solute) produces an osmotic load causing increased fluid losses in the distal small bowel and colon This causes a large osmotic gap, usually over 50 mmol, i.e (sodium ϩ potassium) ϫ ϭ faecal osmolality (measured) or 290 mmol/L Normally the calculation equals 290 mmol/L Lower total electrolyte values suggest an osmotically active substance is present Acute and chronic diarrhoea Usually carbohydrate malabsorption is responsible, resulting in stool pH of Ͻ5.5 due to fermentation of the carbohydrate lower down the tract by bacteria, producing lactic acid Osmotic diarrhoea stops quickly in fasted children SECRETORY DIARRHOEA In contrast to osmotic diarrhoea, secretory diarrhoea continues despite fasting The fluid balance is the difference between secretion and absorption Fasting has no influence on stool output in secretory diarrhoea The equation (sodium ϩ potassium) ϫ ϭ faecal osmolality (measured) is balanced Faecal sodium is generally above 50 mmol/L Most diseases not have a purely secretory component and this must be taken into account when assessing children in the context of diarrhoea Diarrhoea is associated with excess secretion of neuropeptides (VIPomas, Zollinger–Ellison syndrome, neuro- or ganglioneuroblastomas) in addition to congenital diarrhoeas (chloride, sodium) Acute diarrhoea Usually lasting less than two weeks, acute diarrhoea is usually caused by infection Over million deaths occur worldwide each year due to diarrhoea Viruses are the major cause (30–40 per cent) of gastroenteritic infection: rotavirus, enteric adenovirus, astrovirus and calicivirus infection (including Norwalk virus) are commonest Bacteria cause diarrhoeal disease via a number of mechanisms: ● ● ● ● Invasive disease: by invading the mucosa and multiplying within the surface of the mucosa (Salmonella, Shigella, Yersinia, Campylobacter, Vibrio) Cytotoxin production: which alters cell function through direct cell damage (Shigella, enteropathogenic Escherichia coli, enterohaemorrhagic E coli and Clostridium difficile) Enterotoxins: which cause altered cell salt and water balance without damaging the structure of the cell (Shigella, enterotoxic E coli, Yersinia, Aeromonas, V cholerae) Adherence: like many of the E coli’s, enterotoxins adhere to the cell membrane and cause flattening of the microvilli Enterotoxins affect small and large bowel, whereas cytotoxins and enteroinvasive organisms affect primarily large bowel Protozoal infection is also common, with Giardia lamblia and Cryptosporidium, Entamoeba histolytica as well as rarer entities (such as Dientamoeba fragilis, Blastocystis hominis and Balantidium coli, Cyclospora and Isospora) Nematode infections are described in Chapter 21 315 Management The initial step is to assess the degree of dehydration A number of similar classification systems are in use, which assess the degree of dehydration as mild (3–4 per cent), moderate (5 per cent) or severe (10 per cent) Laboratory studies are usually unnecessary in mild-to-moderate disease Blood count, electrolytes, glucose and renal function are important to check in those with severe dehydration or in those who have more complicated problems, such as bloody diarrhoea Withdrawal of feeds is unnecessary and may delay recovery Lactose restriction is usually unnecessary and breastfeeding should be continued Oral rehydration solution (ORS) in mild-to-moderate dehydration should be used in the first four hours with resumption of normal feeding thereafter, followed by an ORS feed of 10 ml/kg per liquid stool as ongoing supplementation, even in children who continue to vomit A variety of different ORS brands are available Those most in use in the UK have between 60 and 75 mmol/L of sodium, as opposed to the World Health Organization (WHO) ORS solution which has a higher sodium content of 90 mmol/L Small frequent feedings using a teaspoon or syringe are effective in rehydrating infants but are labour intensive Nasogastric tubes feeds are as effective as IV rehydration Intravenous boluses and rehydration may be necessary in those with severe dehydration (with abnormal vital signs, depressed level of consciousness) or in those who persistently vomit Chronic consequences of acute infection are lactose intolerance and chronic diarrhoea from enteropathy Chronic diarrhoea Neonatal diarrhoea Congenital diarrhoeas are rare Severe diarrhoea usually starts in the first few hours or days of life Life-threatening dehydration can ensue from conditions including congenital lactase deficiency (see below), glucose-galactose malabsorption, enterokinase deficiency, congenital chloride and sodium diarrhoea, tufting enteropathy and microvillus inclusion disease LACTOSE INTOLERANCE Congenital lactase deficiency is a rare neonatal disorder, though many babies who have diarrhoea are often suspected of having lactose intolerance It usually presents with very acidic diarrhoea and has been documented in families in Finland Late-onset deficiency is seen after infections and enteropathic processes, such as coeliac disease Adult type hypolactasia is described in white, Asian and black populations It is genetically determined and results in phenotypes typically labelled ‘lactose digesters’ and ‘non-digesters’ Lactose non-digesters 316 Gastrointestinal system, hepatic and biliary problems develop problems after the toddler years, when lactase levels seem to decline and typical symptoms of diarrhoea, gassiness, recurrent abdominal pain occur, with improvement on a trial of lactose-free diet Sucrase-isomaltase deficiency CASE STUDY A 5-month-old baby boy presents with acute onset diarrhoea after starting on solids Discontinuing the feed stops the diarrhoea and investigation, including endoscopy and biopsies for disaccharidases, shows sucrase-isomaltase deficiency He is managed on a sucrose-free diet initially, with transfer to enzyme replacement Watery acidic diarrhoea occurs after introduction of starchy foods at weaning Diagnosis is made on a sucrose breath test or on intestinal disaccharidase activity on biopsy and treatment is with avoidance of sucrose, glucose polymers and starch in the first year, with toleration of starch intake improving after the age of years Invertase, a product available to aid digestion of sucrose, can be prescribed Coeliac disease CASE STUDY A 5-year-old Indian boy complains of increasing lethargy, diffuse crampy abdominal pain, loose stools and a change in mood for six months The parents have eliminated milk from the diet with some improvement Examination reveals a pale boy with mild abdominal distension and blood tests reveal iron-deficiency anaemia with a positive coeliac antibody screen The diagnosis of coeliac disease is confirmed on endoscopic biopsy of the distal duodenum Coeliac disease is a ‘reversible gluten-sensitive enteropathy in a genetically susceptible individual’ It is commoner in western European populations (where screening will identify in 100–200 individuals), but is also seen in east Indian and South American populations, but rarely in those of African or East Asian descent Gluten from wheat, barley and rye is the toxic element A trigger infection, typically gastroenteritis, allows the exposure of the mucosa to gliadin, starting a cascade of inflammation mediated by specific restricted T-lymphocytes (DQ2) Human leucocyte antigen (HLA)-DQ2 is the characteristic haplotype found in 90-plus per cent of patients with coeliac disease, with the remainder being HLA-DQ8 positive Coeliac disease remains a biopsy-proven diagnosis, although serological tests are available with high sensitivity and specificity Historically, IgA and IgG antigliadin antibodies were used, but these have been superseded by antiendomysial (EMA) and antitissue transglutaminase (tTG) Selective IgA deficiency is associated with coeliac disease With deficiency, coeliac disease is 10 times more likely to occur, but the standard screen will be falsely negative In this case, IgG antibodies are tested Histological examination of the duodenum (Marsh grading system) classically shows infiltration of intra-epithelial lymphocytes (IEL) and varying degrees of villous atrophy, from little or no change, to virtually flat (subtotal) The crypts lengthen and the lamina propria is heavily infiltrated with chronic inflammatory cells Coeliac disease is also responsible for a lymphocytic gastritis and is associated with lymphocytic colitis and collagenous colitis The mucosal changes improve over the course of a year, with near normalization of histology, but subtle alterations in mucosal T-lymphocyte make-up persist Antibodies disappear after a year or so, with some taking a while longer This may allow clinicians to monitor adherence to some extent (i.e a patient who is persistently positive despite a gluten-free diet is usually non-adherent) Nowadays, a second (or even third) biopsy is not required: the return to negative serology is taken as a proxy for resolution of the mucosal changes Children who present under the age of years are often re-challenged later (‘transient’ gluten sensitive enteropathy) The challenge is given before or after the pubertal growth spurt Such cases are rare if the diagnosis is firmly made with positive serology and confirmatory biopsy before a gluten-free diet is commenced Coeliac disease is associated with Down, Turner and Williams syndromes (incidence is typically per cent), type diabetes (5 per cent), autoimmune liver, adrenal, thyroid and connective tissue disease and is linked to infertility, preterm delivery and low birth weight babies Dermatitis herpetiformis, a blistering skin rash, is also strongly linked Screening on ‘at-risk’ groups including family members (10–20 per cent lifetime risk) and even the general population is a matter of much debate Osteopenia can be seen and diagnosed on a DEXA scan but will normalize after a year on a gluten-free diet Adequate calcium intake and weight bearing exercises are recommended Elevation of liver transaminases is reported and resolves on a glutenfree diet Iron, folate, and less commonly vitamin B12, K Other causes of enteropathy (and vitamin A, D and E) deficiency are seen The risk of intestinal malignancy (upper gastrointestinal cancers and classically enteropathy associated T-cell lymphoma) is increased, but returns to that of the normal population after adherence to a gluten-free diet for about five years Neurological problems have been described (behavioural changes, unexplained epilepsy, peripheral neuropathies) and have been seen in children with cerebral calcification These associations are poorly understood Treatment is adherence to a strict gluten-free diet for life, and patients should be followed regularly with dietetic support KEY LEARNING POINTS ● ● Coeliac disease is common and may present mono- or asymptomatically in at-risk patients Have a low threshold to consider the diagnosis in such patients OTHER CAUSES OF ENTEROPATHY All that is flat is not always coeliac! Other causes of enteropathy include starvation states, post-enteric infection, cows’ milk protein enteropathy (CMPE), chronic Giardia infection, cryptosporidiosis and human immunodeficiency virus (HIV) infection Inflammatory bowel disease (Crohn disease and ulcerative colitis) CASE STUDY A 12-year-old girl presents with an eight-month history of diarrhoea, often stooling six or more times a day including night time, with central crampy abdominal pain, reduced appetite, lethargy, early satiety and weight loss She is pale, has a palpable mass in the right iliac fossa and has chronic anaemia with raised erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) and low albumin Further evaluation with small bowel follow through, upper endoscopy and colonoscopy confirms the diagnosis of ileocolonic Crohn disease ‘Regional ileitis’ was reported by Crohn et al in 1932 though had been previously described A quarter of cases present under the age of 18 years and incidence in the Scottish population is high Smoking is a risk factor but 317 breastfeeding in childhood may be protective An affected first-degree relative conveys a 10–20 per cent lifetime risk to a family member Genetic studies have shown a number of candidate genes (e.g chromosome 16: NOD2/CARD15) which may help identify individuals at risk of future disease and establish their susceptibility to specific disease patterns and distributions This is a complex disease with an abnormal inflammatory cascade driven by antigens (bacteria, potentially dietary) via the mucosal immune system Crohn disease presents from mouth to anus Seventy-five per cent have ileocolonic disease but also present with isolated mouth or perianal changes, small bowel disease or colitis Mouth ulcers, fever, weight loss, early satiety, anorexia, abdominal pain associated with eating and relieved by stooling and frequent loose stools (day or night time) with or without blood are common Anaemia, poor growth and delayed puberty may be the only presenting problems In IBD, other systems may be affected and there is considerable overlap between Crohn disease and ulcerative colitis Eyes (episcleritis, iritis), joints (swelling, arthritis, arthropathy), skin (erythema nodosum, pyoderma gangrenosum), renal tracts (stones, fistulae) and hepatobiliary system (stones, ascending and sclerosing cholangitis, pancreatitis, autoimmune hepatitis) may be involved Deep vein thrombosis and other thrombotic/vasculitic complications have been reported Osteopenia/porosis is common Diagnosis is often delayed Full evaluation at presentation with upper endoscopy and ileocolonoscopy is indicated (Table 10.1) Endoscopic changes typically are of erythema, mucosal thickening, loss of the normal vascular pattern and aphthous ulceration (often linear), patchy in nature (so called ‘skip lesions’) with fissuring and cobblestoning Changes of colitis are often seen (rectal sparing is classically described) and distinguishing Crohn colitis from ulcerative colitis is often difficult Transmural oedema and inflammation may result in stricture and obstruction as well as fistula formation Adjacent loops of bowel, bladder, vagina, urethra, abdominal wall and the perineum can all be affected Perianal disease presents with skin tagging, fissures and abscesses Histologically, Crohn disease causes chronic inflammation with deep layers affected, through to the serosa, ulceration, architectural disruption with branching and destruction of the colonic mucosal glands, crypt abscesses and the presence of non-caseating granulomas Ulcerative colitis typically presents with bloody diarrhoea and again may be insidious in onset and initially indistinguishable from an infectious colitis but persistence of symptoms should raise suspicion and prompt further evaluation It may present with fever, abdominal pain and urgency of stooling, tenesmus and diarrhoea, with or without blood, and, like Crohn disease, investigations 318 Gastrointestinal system, hepatic and biliary problems Table 10.1 Investigations for Inflammatory bowel disease (IBD) Table 10.2 Treatment for Inflammatory bowel disease (IBD) Blood tests Electrolytes, creatinine, glucose, liver function tests, amylase (gallstones, pancreatitis rare), albumin (often low, protein-losing enteropathy), bone chemistry, C-reactive protein, blood count (white blood cells and platelets), erythrocyte sedimentation rate (inflammatory markers raised), prothrombin time (vitamin K), ferritin, vitamin B12, folate, vitamins A, D and E, trace metals (malabsorption), cross-match (transfusion) Attaining remission Stools Exclude enteric infection: Salmonella, Escherichia coli, Shigella, Campylobacter, amoebic, parasites, Clostridium difficile toxin Calprotectin (raised in active IBD, normalizes with clinical improvement) Imaging Plain abdominal film (if toxic megacolon or perforation suspected), upper gastrointestinal barium and small-bowel follow through, barium enema rarely in children (endoscopy), ultrasound of abdomen (gall bladder, renal tracts, bowel thickening), magnetic resonance imaging (bowel thickening, complications: perianal disease), bone age (often delayed), DEXA scanning (bone density), white cell scanning Maintenance Aminosalicylic acid (ASA) compounds, of remission sulfasalazine, mesalazine (Asacol, Pentasa, Salofalk) orally or topically (suppository, enema) Antibiotics: metronidazole, ciprofloxacin (in Crohn disease) Probiotics: lactobacillus, bifidobacteria Immunomodulators: azathioprine (6-MP), methotrexate, thalidomide Biological agents: antitumour necrosis factor ␣ (anti-TNF-␣) Endoscopic Upper endoscopy, colonoscopy and biopsies evaluation (up to 30 per cent of children with Crohn disease will have upper gastrointestinal histological changes even in absence of symptoms), surveillance endoscopy is indicated beginning 10 years after diagnosis of ulcerative colitis (and Crohn disease) as increased risk of malignancy KEY LEARNING POINTS ● ● ● ● show raised inflammatory markers and anaemia Endoscopy may show limited distal acute inflammation in milder cases, but extensive confluent pancolitis with erythema, loss of the normal vascular pattern, mucosal thickening, ulceration and friability are often seen with no mucosal sparing (as might be seen in Crohn disease) Acute presentation may progress to fulminant colitis with toxic megacolon and require aggressive treatment with intravenous steroids and immunosuppression, but may inevitably lead to colectomy and ileostomy Even after thorough evaluation, up to 20 per cent of children fall within an ‘indeterminate’ category Most children will enter remission with steroids (or nutritional therapy in Crohn disease), but IBD is a chronic relapsing and remitting condition and may require step-up therapy as indicated in Table 10.2 It is important to remember that IBD also affects the family A multidisciplinary input from specialist nurses, dietitians, pharmacists, psychologists, surgeons, social workers and schoolteachers is important for patients to manage their condition the best they can Steroids: intravenous, oral, topical (suppository, enema) Enteral nutritional therapy: in Crohn disease – elemental E028, polymeric feeds; Modulen-IBD Ciclosporin (acute colitis, usually ulcerative colitis), biological agents Total parenteral nutrition (may be required in debilitated patients) Inflammatory bowel disease is increasing in incidence and is common in children Crohn disease and ulcerative colitis are multisystem diseases and may present atypically Children with chronic diarrhoea and growth issues need IBD actively excluded A multidisciplinary approach, a thorough explanation of the condition and treatment options to the parents and child are paramount to successful care GASTROINTESTINAL BLEEDING CASE STUDY: Mallory–Weiss tear A 6-year-old girl presents in the early hours of the morning with haematemesis of a large amount of fresh red blood with clots having been vomiting and retching frequently for two days She is haemodynamically stable when seen in Accident and Emergency A good history reveals previous episodes of epistaxis but there is no blood on ENT examination Later that day, endoscopy reveals a mm tear in the fundal area consistent with a traumatic tear Index cardiomyopathy 224 cardiopulmonary resuscitation 97–100 cardiotocograph (CTG) 124–5 cardiovascular disease 279–307 cardiovascular system 127, 130, 292–6 carditis 302–3 careless wetting 367 carers 96, 111 see also parents carrier screening 81 carrier state, ␣-thalassaemia 585 Carter–Wilkinson hypermobility criteria 507 cartilage tumours 492 catabolic pathways 449 catheterization 291–2 CCAM see congenital cystic adenomatoid malformation CD40 ligand deficiency 206 CDG see congenital disorders of glycosylation CDGA see constitutional delay in growth and adolescence CDH see congenital diaphragmatic hernia cell mediated immunity 205 cellular organelle defects 477, 479–84 centile lines, growth charts 409 central nervous system degenerative disorders 235–8 neonatal disease 151–3 spina bifida 69, 253–4 spinal cord injury 101 see also brain; nervous system cerebellar tonsils 250 cerebral ischaemia/hypoxia 229 cerebral palsy 155, 215, 231–4, 467 cerebral perfusion pressure (CPP) 247 cerebrospinal fluid (CSF) 247–8 cervical lymph node enlargement 612–13 cervical spine control 100–1 cervical spine injury (CSI) 101, 112 CESDI see Confidential Enquiry into Stillbirths and Deaths in Infancy cestodes 638 CETV see congenital talipes equinovarus CH see congenital hypothyroidism chamber hypertrophy 290 Charcot–Marie–Tooth disease 221 CHARGE syndrome 520 chemotherapy 444, 597, 600–1 chest compression 99 emergency vascular access 102 radiography 288–9 radiotherapy 444 wall malformations 259 chicken pox 182 child development teams 26, 33 child protection 8–10, 14–25 childhood absence epilepsy (CAE) 243, 244 childhood disintegrative disorder (Heller syndrome) 56 Children’s Hearings system 11–14, 21–3, 24 children’s panels 12–13 chlamydia 177–8, 532 choanal atresia 147 cholera 198 cholestasis 328, 331, 454 chorionic villus sampling (CVS) 124 CHPs see community health partnerships Christ-Siemens-Touraine syndrome see X-linked hypohidrotic ectodermal dysplasia chromosomes 60–8 chronic lung disease (CLD) 146, 154 cigarette smoke see smoking cingulate gyrus 250 circadian rhythms 528–9 circulating autoantibodies 207 circumcision 392 CK see creatine kinase CLD see chronic lung disease CLE see congenital lobar emphysema cleft palate 84–5 Climbié, Victoria 15, 109–10 clinical genetics 59–90 clinical psychology 35 clonic epileptic seizures 242 clubbing 293 CMPI see cows’ milk protein intolerance CMT 1a 225 CMV see cytomegalovirus coagulation 159, 580–1, 592 coarctation of the aorta 285–6 codons 71 coeliac disease 316–17, 346, 352, 403 cold autoimmune haemolytic anaemia 607 collagen vascular disease 188 coloboma 520 colour vision 30, 523 comas 463 combination dipstick urinalysis 363 combined ultrasound and biochemical (CUB) screening 124, 125 common variable immunodeficiency 206 communication 667 behavioural and emotional problems 37–8 child protection 24 development of 31–2 community child health 1–35 community paediatricians see consultant community paediatricians complement cascade 169, 205–7 complete androgen insensitivity syndrome (CAIS) 439 complete heart block 306–7 compulsive water drinking 375 computed tomography (CT) scanning gastrointestinal disease 313 head injury 115–16 heart disease 292 ophthalmoscopy 524 urinary tract 359 concussion 228 conditioning therapy 367 conduct disorder 48–9 conducting airways 259 conduction see heart rate Confidential Enquiry into Stillbirths and Deaths in Infancy (CESDI) 121 confidentiality 78–9 congenital adrenal hyperplasia (CAH) 432–4 congenital conditions 81–90 absence of skin 569 acyanotic lesions 282–7 angioedema 576 fibroangioma 572 complete heart block 306–7 convex pes valgus 511–12 eye malformations 520–1 foot deformities 510–11 glaucoma 520 growth hormone insufficiency 418–19 heart defects 280–7 heart disease 297–300, 605 hepatic fibrosis 330 infections 177–82 limb abnormalities 510 liver disease 331 lobar emphysema 147 lobe overdistension 258–9 muscular dystrophies 222 myotonic dystrophy 219 nasolacrimal duct obstruction 520 neonatal respiratory disease 146–8 non-progressive myopathies 222 smooth muscle hamartoma 548 vascular rings 143–4 congenital cystic adenomatous malformation (CCAM) 147, 259 668 Index congenital diaphragmatic hernia (CDH) 146–7, 150, 157 congenital disorders of glycosylation (CDG) 472, 482–3 congenital hypothyroidism (CH) 428 congenital lobar emphysema (CLE) 258–9 congenital talipes equinovarus (CETV) 211 conjugated jaundice 132, 328, 329 conjunctiva 531–3 connective tissue disorders 485–517, 549, 576 consanguinity 79 consciousness levels 115 consent 21, 44–5, 78–9 constipation 324–5 constitutional delay in growth and adolescence (CDGA) 424 contact tracing 193 continence 366 continuous epileptic seizures 242 continuous feeding 350 continuous positive airways pressure (CPAP) 148 contrast studies 312–13 contusions 228 conversion disorders 52 convex pes valgus 511–12 convulsions 226–8 see also seizures coping behaviours 42 Core Child Health Programme 2, 3–7 corneal reflex 522 coroners 118, 119 corticosteroids 224 cot death 464, 466 cough 261 Court Report (1976) 1, 26 cover test 522–3 Cowden syndrome 320 cows’ milk protein intolerance (CMPI) 323–4 CPAP see continuous positive airways pressure CPP see cerebral perfusion pressure cranial DI 436 cranial irradiation 443–4 cranial sutures 252 craniectomy 251 craniopharyngioma 420 craniosynostosis 252–3 creatine kinase (CK) 223–4 creeping eruption see cutaneous larva migrans Crigler–Najjar types and 328 Crohn disease 317–18, 345, 623 Cronkhite–Canada syndrome 320 cross-sectional heart imaging 291 croup see laryngotracheobronchitis CRP see C-reactive protein cryotherapy 542 cryptic structural chromosome abnormalities 75–6 cryptogenic epileptic seizures 241 cryptorchidism see absent testis crystalluria 467 CSF see cerebrospinal fluid CSI see cervical spine injury CT see computed tomography CTG see cardiotocograph CUB screening see combined ultrasound and biochemical screening Cushing syndrome 415, 431, 433–4 cutaneous histiocytosis 566–7 cutaneous larva migrans 637 cutaneous leishmaniasis 634 cutaneous mastocytosis 566–9 cutis aplasia see congenital absence of skin CVS see chorionic villus sampling cyanosis 293, 299–300 cyanotic heart disease 143 cyanotic lesions 280–2 cardiac catheterization 291 duct-dependent 297–8 radiography 288 cyclical nutrition 351 cyclical vomiting 313–14, 327 cycloplegic retinoscopy 527 cystic fibrosis 270–3 diabetes 398 genetics 68–9, 86 malabsorption 345–6 musculoskeletal disorders 510 neonatal screening 4, 137 cystic hygroma 616–17 cystic kidney disease 361 cysto-urethritis 364 cytogenetic analysis 60–1, 66 cytokines 171–2, 186 cytomegalovirus (CMV) 134–5, 179 cytotoxin production 315 daytime enuresis 366 DDH see developmental dysplasia of the hip deaf-blind see dual sensory impairment deaths apparent life-threatening events 119 in utero 123 post-confirmation procedure 117–18 sudden unexpected death in infancy 116–19 deep partial-thickness burns 106 degenerative disorders 235–8 dehydration 315 delayed puberty 424–5 deletion mutations 75 delhi boil see cutaneous leishmaniasis delirium 227 demographics, fetal and neonatal medicine 121 dendritic cells 171, 216 dental treatment 7, 301 depression 50–1 dermal melanocytoses 546–7 dermal naevi 548–50 dermal rashes 573 dermatitis 550–2, 555 dermatology anatomy, embryogenesis and function 543–4 atopic eczema 552–4 blistering disorders 554–5 clinical features and investigations 539–43 congenital absence of skin 569 facial dermatoses 574–7 genodermatoses 556–61 hair abnormalities 566–9 infections 561–6 infiltrations 566–7 neonatal 544–52 red rashes 569–72 dermatomyositis 498–500, 572, 576 dermatoscopy 539 development, types 408 developmental delay community child health 25–34 investigation of 27, 467 metabolic disorders 448, 466–8 nervous system 217–18 developmental dysplasia of the hip (DDH) 130, 512–14, 515–16 diabetes 376 adolescence 402–3 aetiology 395 anatomy 395 care team 397–8 co-morbidity 403 complications 403–4 diagnosis and initial management 395–7 epidemiology 395 hypoglycaemia 399–401 insulin regimen 399 mothers 157–8 Index nutritional management 346 ophthalmic screening 526 prevention 399 sick days 401 technology 398–9 toddlers 403 unusual cases 398 dialysis 95 see also haemodialysis Diamond–Blackfan syndrome 588 diarrhoea 314–17 diastolic murmurs 295 diastomyelia 253 DIC see disseminated intravascular coagulation diet see nutrition dietary reference value (DRV) 341 differential white count 174 DiGeorge syndrome 67 dilated cardiomyopathy 303–4 diluting capacity 357 DIOS see distal intestinal obstruction syndrome diphtheria 198 diplopia 249 disability assessment 101 disabled children 110 disaccharidases 310 discitis 497 disease and nutrition 345–7 displacement 42 disseminated intravascular coagulation (DIC) 591 disseminated tuberculosis 192 distal intestinal obstruction syndrome (DIOS) 273 distraction test 28–9 diuretics 251 DMD see Duchenne muscular dystrophy DNA sequence variations 74–5 sequencing 76–7 structure and protein synthesis 70–3 viruses 166, 167 Donath–Landsteiner-type autoimmune haemolytic anaemia 607 dopamine 436 Doppler ultrasound acute renal failure 377 acute scrotum 393 cardiovascular disease 291 fetal medicine assessment 124 urinary tract 358 dorsal rhizotomy 234 Down syndrome antenatal screening 80 arthritis 504 heart defects 281, 286 hypothyroidism 428 OSAHS 275, 276 Dravet syndrome 240, 244 drowning 111–12 DRV see dietary reference value DTP vaccine 154 dual sensory impairment 30–1 Dubin–Johnson 328 Duchenne muscular dystrophy (DMD) 66–7, 87–8, 223–4, 276 duct-dependent lesions 298–9 duodenal ulcers 322 duplication of urinary collecting system 362 dyskeratosis congenita 587 dyskinesia 232, 233 dysmorphic syndromes 82 growth problems 412–14 metabolic disorders 469, 470–2 neonates 447–8 tall stature 416–17 EAR see estimated average requirement ear, nose and throat problems 263–4 early onset neonatal infections 133 early puberty 421–2 eating disorders 51–2 ECG see electrocardiography echocardiographic examination 297 ECMO see extracorporeal membrane oxygenation ectodermal dysplasia 561 ectopic kidneys 362 eczematous lesions 574 education, visually impaired children 530 educational specialists 32–4 EEG see electroencephalography effusions 231 Ehlers–Danlos syndrome 507 electrical burns 106, 108 electrocardiography (ECG) 289–90 electroencephalography (EEG) 28, 243 electrogastrography 311 electrolyte balance 108, 126, 385–90 electrophysiology 237, 524, 529 electroretinogram (ERG) 524–5 embryology 122 adrenal gland 430–1 gastrointestinal tract 309 groin and genitalia 624 nervous system 213–16 respiratory system 257 skin 542 669 thyroid gland 426 urinary tract 355–6 emergency needle thoracocentesis 103 emergency vascular access 102–3 emotional abuse 110 emotional problems see behavioural and emotional problems empyema 267 encephalization 213–14 encephalocele 254 encephalopathy 447, 448, 461–463 encopresis 47–8 endobronchial disease 191 endocrine disorders 417–44, 454 endocrinology 405–44 endoscopy 312, 313, 318 endothelial change 186–7 endothoracic lymphadenopathy 191 endotracheal tubes (ETTs) 149 enema 312–13 enteral nutrition 350 ‘at risk’ neonates 136–7 burns 108–9 inflammatory bowel disease 345 enterobacteria 163 Enterobius vermicularis 636–7 enteropathy 317–18 enterostomy 350 enterotoxins 315 enthesitis 486, 490 enuresis 47, 365–8 environmental agents 395, 596 enzymology 449, 452 EPICure study 121 epidermal naevi 547 epidermolysis bullosa 554–5 epidermolytic hyperkeratosis see bullous ichthyosiform erythroderma epididymitis 393 epididymo-orchitis 626 epiglottitis 265 epileptic syndromes 227–8, 236, 238–46, 461 epistaxis 264 ERG see electroretinogram erysipelas 562, 564 erythema multiforme 540, 555, 562, 564, 571, 573 erythema toxicum neonatorum 544–5 erythroblastopenia 588 erythrocyte sedimentation rate (ESR) 487 erythroid cells 582 erythrovirus 180, 182 espundia see mucocutaneous leishmaniasis 670 Index ESR see erythrocyte sedimentation rate ETTs see endotracheal tubes ex-vacuo collections 231 exaggerated adrenarche 423 exanthemata 178, 182–3 exchange transfusions 132–3 exons 71 expiratory apnoea see breath-holding attacks exposure, injury assessment 101 external genitalia 437 extracellular volume 385 extracorporeal membrane oxygenation (ECMO) 145, 151 extracorporeal techniques 95 extrahepatic biliary atresia 329 extreme prematurity 139 extubation 150 eyelid myoclonia 242 eyes see ophthalmology facial dermatoses 574–7 facial rashes 572 factitious illness syndrome see Munchausen syndrome by proxy faecal fat 311 failing vision 530–1 failure to thrive 416 metabolic disorders 448, 466 non-organic 18, 46–7 undernutrition 347, 352 Fallot’s tetralogy 298 familial adenomatous polyposis (FAP) 320 familial disorders, see also genetic disorders familial juvenile nephrolithiasis (FJN) 361 family factors 44 Family Need Score family tree 59–60 Fanconi anaemia 587, 605 Fanconi syndrome 376–7 FAP see familial adenomatous polyposis fast-feed cycle 449–50 fatigue 44, 223 fats 337, 338 fatty acids 456, 463–5 febrile convulsions 226–8 feeding problems 41, 46, 141–2 feet deformities 510 female masculinization 439 femoral pulses 130, 285–6, 293 fetal alcohol syndrome 415 fetal compromise 123 fetal medicine 121–59 assessment 124–5 circulation 279–80 growth and development 122–4, 340 haemoglobin 591, 609 infections 177–81 labour 125 lung fluid 258 maternal nutrition 339–41 nutrient accretion 340 renal function 355–6 respiratory system 257–8 uropathy 359–63 fifth disease see erythema infectiosum fingertip unit 542 FISH see fluoresence in situ hybridisation FJN see familial juvenile nephrolithiasis flexible bronchoscopy 263 floppy infant see hypotonia fluid and electrolyte abnormalities 385–90 fluids abnormalities 385–90 burns management 108 cardiopulmonary resuscitation 100 neonate care 126 fluoresence in situ hybridisation (FISH) 66 focal epileptic seizures 242 folic acid 122, 339, 585 food see nutrition footprint changes 485 forced diuresis 95 foregut 309 foreskin pain 626–8 formula feeding 140 fostering 25 fractures 16 fragile X syndrome 76 Friedreich ataxia 76 frontal QRS axis 289–90 full blood count 487, 603 full thickness burns 106 functional ability, visually impaired children 529 functional assessment, nutrition 352 functional differentiation, encephalization 214 functional disorders abdominal pain 326 constipation 324 gastrointestinal 325–7 fungal infections 188, 562, 565 fungal scrapes 540 fungi classification 161, 167 G6PD see glucose 6-phospate dehydrogenase gait see walking galactosaemia 454, 457, 471 gall stones 332–3 Gardner syndrome 320 gastric lavage 95 gastritis 322 gastro-oesophageal reflux (GOR) 159, 313, 320–1 gastroenteritis 623 gastrointestinal disorders bleeding 318–20 cystic fibrosis complications 273 endoscopy 312 investigations 309–13 tumours 444 gastrointestinal system 309–35 GBS see group B streptococcus GCS see Glasgow Coma Scale gelastic epileptic seizures 242 gender, injury patterns 92 gendomatoses 553–9 gene expression 73 gene transcription 71 general practitioners (GPs) generalized epileptic seizures 242 genetic code 71–2 genetic counselling 77–8 genetic disorders 59, 83 bleeding 610 coagulation 592 glucocorticoid deficiency 431 haemolytic 588 haemophilia 610 immune system 204 musculoskeletal 506 patterns 68–70 Reye syndrome mimicking 461 spherocytosis 605–6 testing for 79 genetic factors childhood malignancy 596 cystic fibrosis 270–1 neurodegenerative conditions 237 ophthalmology 519 genetic screening 80–1 genital staging 409 genital warts 564, 565 genitalia absent testis 625–6 acute scrotum 393 balanoposthitis 627 bruising 16 epididymo-orchitis 626 foreskin pain 626–8 hydrocele 625 idiopathic scrotal oedema 625 inguinal hernia 624 labial adhesions 628 Index phimosis 627–8 sex differentiation 437 testis torsion 623 trauma 625 tumour 625 varicocele 626 see also groin and genitalia genomic imprinting defect 62 geohelminths see gut nematodes GFR see glomerular filtration rate giggle micturition 367 Gilbert syndrome 328 Glanzmann thrombasthenia 605 Glasgow Coma Scale (GCS) 115, 229–30 glaucoma 520 glial cells 214 globin chain development 579, 584–5 glomerular filtration rate (GFR) 355–7, 379–80 glomerular haematuria 372–3 glucocorticoids excess 434–5 function 430–1 insufficiency 434 maternal 123–4, 125 glucose 351, 453–4 glucose 6-phospate dehydrogenase (G6PD) deficiency 590 glutaric aciduria 460, 461 gluten-free diet 346 glycine cleavage defect 461–2 glycogen storage disease (GSD) 452–3 glycolysis 338 glycosylation 477, 482–4 goitre 427, 429–30 gonadal axis 421–6 GOR see gastro-oesophageal reflux GORD 320–1 gout 508 GPs see general practitioners granulomatous conditions 613 Graves disease 429 groin and genitalia 624–8 see also genitalia group B streptococcus (GBS) 133–4 growth assessment 411–13 cardiovascular disease 292 charts 409, 411–13 chronic renal failure 380 failure 416–17 hormones 405–12 iron deficiency 582 juvenile idiopathic arthritis 493 physiology 408–13 problems 412–17 growth hormone 418–21 GSD see glycogen storage disease Guillain–Barré syndrome 225 gut nematodes 636–40 gynaecomastia 425 haemangiomas 546 haemachromatosis 68 haematology 579–96 musculoskeletal disorders 494, 513 neurodegenerative conditions 237 nutrition 352 haematoma 231 haematopoiesis 579–80 haematuria 368–75 haemodialysis 379, 381 haemofiltration 95 haemoglobin (Hb) Bart’s hydrops fetalis syndrome 585 H disease 585 iron deficiency 582–3 qualitative haemoglobin disorder 590 synthesis 584–5 types 591 haemolytic disease of the newborn (HDN) 133, 590 haemolytic disorders 588–9 haemolytic uraemic syndrome (HUS) 604–5 haemophilia 508–10, 610–12 haemoptysis 264 haemostasis 580–1 hair 566–9 Hall reports handwashing protocols 136 haploin-sufficiency 68 Hashimoto thyroiditis 429, 431 hay fever 210, 532 Hays Wells syndrome see ankyloblepharon-ectodermal dysplasia-cleft palate Hb see haemoglobin HDN see haemolytic disease of the newborn head injury 113–16, 228–31 intracranial pressure (ICP) 116, 246–51, 255 scalp 255 size and shape 215, 251–2, 409 see also brain; cranheadache 249, 254–5 see also migraine health promotion programmes 2, healthcare-associated infection 195–7 hearing 3, 28, 137, 156 671 heart defects 280–7 failure 287–8, 293 murmurs 282–3, 294–5, 296–7 rate 125, 289, 304–7 heart disease acquired 301–4 incidence, association and aetiology 280 investigations 288–92 neonates 297–300 rheumatic 302–3 thrombocytopenia 605 see also cardiovascular disease heavy metal poisoning 221 height 408–17 Helicobacter pylori 311, 322 Heller syndrome (child disintegrative disorder) 56 hemiplegia 233 Henoch–Schönlein purpura (HSP) 372, 502, 503, 621 hepatic disorders 309–35, 457 hepatitis 328–9, 332 hepatitis A 198, 332 hepatitis B 153, 181, 198–9 hepatitis C 181 hepatobiliary scintigraphy 313 hepatocellular failure 454, 457, 458 hepatosplenomegaly 613 herd immunity 197 heredity see genetic disorders herniation see brain herniation syndromes herpes simplex 179–80, 562–4 atopic eczema 552–4 blistering 554 conjunctiva 532 neonates 135 heteroplasmy 70 heterozygotes 68 HIB vaccine 154, 199 HIDA scan see hydroxyiminodiacetic acid scan high-dose cranial irradiation 444 high-frequency oscillatory ventilation 149–51 high-risk babies 153–6 hindgut 309 hips 129, 130, 512–13, 514–15 Hirschsprung disease 325 HIV see human immunodeficiency virus HLA see human leucocyte antigen Hodgkin disease 598–9 holoprosencephaly 214, 215 homoeostatic neonatal support 139–40 672 Index homoplasmy 70 hookworm 637 hormones 405 hypothalamo-pituitary unit 418–37 physiology 405–12 receptors 405–6 thyroid assessment 426 Hospital at Home initiatives 11 host defences 168–73 HSP see Henoch–Schönlein purpura human genome 74–5 human immunodeficiency virus (HIV) 135, 193–5, 236, 629 human leucocyte antigen (HLA), B27 486 humoral immunity 205–6 Huntington disease 76, 85–6 HUS see haemolytic uraemic syndrome hydatid disease 639–40 hydroa vaccineforme 572, 577 hydrocele 625 hydrocephalus 246–51 hydrops fetalis 123, 157, 158, 585 hydroxyiminodiacetic acid (HIDA) scan 131 hyperammonaemia 468–9 hypercalcaemia 442–3 hyperglycaemia 395 hyperinsulinism 451, 456 hyperkalaemia 389 hyperkinetic disorder see attention deficit hyperactivity disorder hypermobility 507 hypernatraemia 386–7 hypersensitivity 208–9 hypertension 121, 382–5 hyperthyroidism 426, 428–9 hypertrophic cardiomyopathy 304 hyperventilation 251 hypocalcaemia 441 hypodipsia 436 hypoglycaemia 452–4, 469 diabetes 399–401 disorders causing 453–4 hepatic disorders 455 neonates 136–7, 445 treatment 451–2 hypokalaemia 387–8 hyponatraemia 385–6 hypoparathyroidism 441–2 hypospadias 392 hypothalamo-pituitary unit 406, 418–37 hypothermia 112–13 hypothyroidism 4, 137, 236, 403, 426–8 hypotonia 219–20, 457 hypoxia 100, 112 hypoxic-ischaemic encephalopathy 139, 153–4 hypsarrhythmia 240 IAP see intrapartum antibiotic prophylaxis IBD see inflammatory bowel disease IBS see irritable bowel syndrome ichthyoses 558–4 ICP see intracranial pressure ICP model see infantile–childhood–pubertal model ICS see inhaled corticosteroids icterometer 131 icthyosis 558 idiopathic respiratory distress syndrome (IRDS) 144–5, 149–50 idiopathic thrombocytopenic purpura (ITP) 601–4 IDP see inflammatory demyelinating polyneuropathy IgA deficiency 206 ileocolic intussusception 619 illness-specific stress 43 immune system 168–73, 203–8 immunization active 197–202 asplenic children 595–6 high-risk babies 153–5 passive 202 immuno-bullous disorders 554 immunoglobulins 172–3 humoral immunity tests 205 transfusions 133, 134 immunology 238, 540 impetigo 555, 561–3 ‘in frame’ gene mutations 223 incarcerated inguinal hernia 393 incomplete puberty 425–6 incontinence 367 incontinentia pigmenti 558, 560 induced illness 111 infantile haemangiomas 546 infantile hypertrophic pyloric stenosis 617–18 infantile–childhood–pubertal (ICP) model 408–9 infection anaemia 591 antibiotics 174–7 asplenic children 595–6 bones and joints 493–6 childhood 178–85 control 195–7 dermatology 561–6 diagnosis 173–4 fetus 177–84 healthcare-associated 195–7 HIV and AIDS 135, 193–5, 236, 631 host defences 168–73 immunity and allergy 161–212 immunization 197–203 liver problems 331–2 lymphadenopathy 612–13 neonates 133–6, 177–84 pathogens 161 pyrexia of unknown origin 187–90 respiratory system 261, 273–7 risk factors 161–8 sepsis 185–7 sickle cell disease 607 toxic shock syndrome 190–1 tuberculosis 191–3 infectious diseases 173–4 infective endocarditis 301–2 infective hepatitis 621 infiltrations 563–5 inflammatory bowel disease (IBD) 317–18, 345, 496 inflammatory demyelinating polyneuropathy (IDP) 221 inflammatory musculoskeletal disorders 489–96 influenza vaccines 154, 199, 593 information collection and sharing 9–10 ingestions 91–120 inguinal hernia 622–3 inhalation injury 109 inhaled corticosteroids (ICS) 268–9 inhaled insulin 398 inhaled nitric oxide therapy 151 inheritance see genetic disorders injuries 91–120 abuse 15–16 assessment and management 100–2 musculoskeletal disorders 504 patterns 91–2 prevention 92–3 social deprivation 91 innate immune system 168–71 ‘innocent’ murmurs 296–7 insertion mutations 75 insulin therapy 397–9, 401 interagency groups 25–6 intermediary metabolism disorders 469, 471–5 intermittent positive pressure ventilation (IPPV) 149 internal genitalia 437 intersex babies 437–8 interstitial lung disease 276 intestinal helminths see gut nematodes Index intestinal obstruction 623 intracranial injury 114–16 intracranial pressure (ICP) 116, 246–51, 255 intractable seizures 461 intramuscular adrenaline 104 intraosseous infusion 102–3 intrapartum antibiotic prophylaxis (IAP) 134 intrathecal baclofen 234 intrauterine growth retardation (IUGR) 340–1 asymptomatic hypoglycaemia 136–7 complications and outcome 142 placental development 121 short stature 412 intrauterine infections 177 intrauterine paralysis 254 intravascular volume 385 intravenous immunoglobulin 202 intravenous urogram (IVU) 359 introns 71 intussusception 619–21 IPPV see intermittent positive pressure ventilation IRDS see idiopathic respiratory distress syndrome iron deficiency 343, 352, 582–4 irritable bowel syndrome (IBS) 326 irritant napkin dermatitis 550–1 isolated premature menarche 423 isolated premature thelarche 423 isovaleric acidaemia 459 ITP see idiopathic thrombocytopenic purpura IUGR see intrauterine growth retardation IVIG see intravenous immunoglobulin IVU see intravenous urogram jaundice liver disease 327 metabolic disorders 450, 451, 454 neonatal 130–3 JDM see juvenile dermatomyositis jejunal biopsy 310 JIA see juvenile idiopathic arthritis joints infections 491–5 juvenile idiopathic arthritis 491–2 pathophysiology 486 see also arthritis juvenile arthritis 491 juvenile dermatomyositis (JDM) 498–9 juvenile idiopathic arthritis (JIA) 486–7, 491–2, 526 juvenile melanoma see spitz naevus juvenile polyps 319–20 kala-azar see visceral leishmaniasis karyotypes 61 Kawasaki disease 302, 504 kernicterus 130–1 ketoacidosis 396–7 ketosis 451, 453, 454 Klinefelter syndrome 69, 439 knee pain 506–8 kussmaul breathing 396 kwashiorkor 348 labial adhesions 628 lactic acidosis 454, 455 lactose intolerance 315–16 Landau–Kleffner syndrome 240, 244 Langerhans cell histocytosis 552–3, 566–7 language see speech and language laryngotracheobronchitis 265 laser therapy 543 lateral neck swellings 615–17 LCH see Langerhans cell histocytosis LCPs see long-chain polyunsaturated fatty acids lead poisoning 584 learning disability cerebral palsy 231–233 community child health 21–36 high-risk babies 153 neuronal proliferation disorders 214–15 left axis deviation 290 Legg–Calvé–Perthes disease 506 leishmaniasis 632–4 Lennox–Gastaut syndrome 240, 244 lens malformations 520 leukaemia 596–8 see also acute lymphoblastic leukaemia leukocoria see white pupil limb abnormalities 510 limb girdle muscular dystrophies 222, 224 limp 516 linear growth 408, 409 linear verrucous epidermal naevi 546, 547–8 lipoprotein metabolism disorders 471, 478 lissencephaly 215, 217 liver biopsy 309–10 disease 327–32, 605 failure 332, 334, 447, 454, 455–7 function tests 454 older child problems 332–3 673 localized idiopathic pain syndrome 515 localized sclerodermas 502 LogMAR acuity chart 521 long-chain polyunsaturated fatty acids (LCPs) 140 long QT syndrome (LQTS) 306 low-resource countries 629–43 lower reference nutrient intake (LRNI) 341 ‘lower tract’ urinary symptoms 364 LQTS see long QT syndrome LRNI see lower reference nutrient intake Lund and Browder burn area estimation chart 106–7 lungs biopsy 263 fetal fluid 258 functional abnormalities 263 interstitial diseases 276 neonatal adaptation 138 neonatal care 127 postnatal development 258 see also chronic lung disease LVAs see low vision aids Lyme’s arthritis 495, 496 lymphadenopathy 613–14 lymphatic malformations 547 lymphoblastic leukaemia 596 lymphocyte proliferation 205 lymphoedema 414 Lyonization 69 lysosomal disorders 236, 237, 448, 477, 479–82 macrocephaly 251 macronutrients 337, 338 macrophages 171, 186 macrovascular disease 404 macula 527 magnetic resonance imaging (MRI) 292 gastrointestinal disease 313 musculoskeletal disorders 487 ophthalmic investigation 526 urinary tract 358 malabsorption 345, 586 malaria 630–2 male undermasculinization 438–9 malformations genetic 81–90 limbs 510 respiratory tract 258–60 malignancy genetic and environmental factors 596 infiltration 611 masses 613 musculoskeletal disorders 491–2 pyrexia of unknown origin 187–8 674 Index Mallory–Weiss tear 318 malnutrition 344, 345, 348 malrotation and volvulus 618, 619 mania 51 manometry 311 Mantoux test 192 MAP see mean arterial pressure maple syrup urine disease (MSUD) 460, 471 marasmus 348 Marfan syndrome 507 marrow failure syndromes 582 MAS see meconium aspiration syndrome masculinization, female 438–9 matrilinear inheritance 70 maturity – onset diabetes of the young (MODY) 398 see also type diabetes MCAD see medium-chain acyl CoA dehydrogenase deficiency MCD see medullary cystic disease MCV see mean corpuscular volume MDVI see multidisabled visually impaired mean arterial pressure (MAP) 247 mean corpuscular volume (MCV) 579, 580 measles 182, 199 mechanical musculoskeletal disorders 485–6, 503–6 Meckel diverticulum 313, 623–4 meconium aspiration syndrome (MAS) 145, 150 medium-chain acyl CoA dehydrogenase deficiency (MCAD) 464–5 medullary cystic disease (MCD) 361 medullary sponge kidney (MSK) 361 meiosis 61 melanocyte naevi 549–60 menarche 422–3 meningitis 177, 182–5 neonatal seizures 153 tuberculosis 192 vaccine 154 meningococcal vaccines 199, 595 menstrual disturbance 425 mental health 35 see also behavioural and emotional problems mercury sphygmomanometry 382 messenger RNA 70–1 metabolic disorders 447–84 acidosis 391, 455, 457–9 alkalosis 391 bone disease 514 dysmorphic syndromes 467, 469–70 liver disease 331 musculoskeletal 222, 506 neonatal 140 ocular defects 521 red cells 586 metabolic investigations, developmental delay 27 metabolic pathways 448 methaemoglobinuria 143 methylmalonic aciduria (MMA) 457–8 microalbuminuria 403 microangiopathic haemolytic anaemia 591 microcephaly 251 microdeletion syndromes 66 micronutrients 338–9 microphthalmia 520 micturating cystourethrography 359 mid-parental height (MPH) 410–12 midgut 309 migraine 239, 255, 326 see also headache migration, nervous system development 214–15 miliaria 545 milk formulas 340, 342 Miller-Dieker syndrome 67 mineralocorticoids 430, 431, 433, 434 minerals 338–9 mitochondrial disorders 70, 236, 458, 475, 477–8 mixed connective tissue disease 500–2 MMA see methylmalonic aciduria mobility, visually impaired children 527 moderate cyanosis 299–300 MODY see maturity – onset diabetes of the young molecular genetics 76–7, 406 molluscum 562, 564 monogenic diabetes 398 monoplegia 233 moribund SUDI presentation 117 morning glory syndrome 520 mosaicism 62 motility 311–12, 321 motor development 216, 448 motor disorders 232–4, 237 mouth embryology 309 MPH see mid-parental height MRI see magnetic resonance imaging mRNA see messenger RNA MSK see medullary sponge kidney MSUD see maple syrup urine disease mucocutaneous candidiasis 562, 565 mucocutaneous leishmaniasis 634 mucocutaneous lymph node syndrome 302 mucopolysaccharidoses 236 multidisciplinary teams 25–6 cystic fibrosis 273 diabetes 397 juvenile idiopathic arthritis 491 mental health 40 nutrition 349 mumps 182, 200 Munchausen syndrome by proxy 15, 16, 18, 110, 111 murmurs 282–3, 294–5, 296–7 muscles 224, 491 musculoskeletal disorders 485–517 mutations, genetic 75–6 myasthenic disorders 222 myelination 215 myeloid leukaemia 596–7 myoclonic absence epileptic seizures 242 myoclonic epileptic seizures 242 myoclonic jerks 153 myositis 222 myotonic disorders 76, 88–9, 222 N-acetylcysteine (NAC) infusion 96–8 napkin rashes, dermatology 550–2 NAS see neonatal abstinence syndrome nasogastric tube feeding 350 nasolacrimal duct obstruction 520 National Poisons Information Service (NPIS) 93 NBD see neuropathic bladder dysfunction NBT see nitroblue tetrazolium test NDI see nephrogenic diabetes insipidus near-miss cot death 464, 466 neck lumps 615–17 necrotizing enterocolitis 141–2 needle cricothyroidotomy 103 needle thoracocentesis 103 negative myoclonus 242 neglect 110 neonatal abstinence syndrome (NAS) 153–4, 158 neonatal intensive care unit (NICU) 133, 135–6 neonatal medicine 121–59 acne 545 adaptation mechanisms 138–9 assessment 127–30 bacterial meningitis 183–5 blistering disorders 554 cardiac disease 142–4 care 26, 125–7 Index central nervous system disease 151–3 coarctation of the aorta 285–6 dermatology 544–52 diabetes 62, 398 diarrhoea 315–16 dysmorphism 447–8 Graves disease 429 haematopoiesis 579–80 haemolytic disease 588–9 haemostasis 580–1 heart disease 297–300 hepatitis syndrome 328–9 hereditary spherocytosis 606 homoeostatic support 139–40 hyperammonaemia 468–9 hypocalcaemia 441 hypoglycaemia 136–7 immunizations 153–4 infections 133–6, 177–85 jaundice 130–3 liver disease 327–31 lupus erthyematosus 545–6 metabolic disorders 447–8 methylmalonic aciduria 459 musculoskeletal disorders 506–15 nutrient accretion 340 rashes 544–5 respiratory disease 144–8 respiratory support 148–51 screening 3, 80–1, 137 seizures 153–4 severe persistent hypoglycaemia 453 stroke 153 suspected congenital heart disease 297–300 systemic lupus erythematosus 500 thrombocytopenia 604 thyroid problems 427 transient hyperammonaemia 469 nephroblastoma see Wilms’ tumour nephrocalcinosis 232, 146 nephrogenic diabetes insipidus (NDI) 376 nephrolithiasis 371–2 nephrotic syndrome 373–5 nervous system brain herniation 246–51 cerebral palsy 231–4 degenerative disorders 235–8 developmental delay 217–19 embryology and development 213–16 examination and investigation 216–17 febrile convulsions 226–8 head injury 228–31 head size and shape 251–2 headache 254–5 hydrocephalus 246–51 intracranial pressure 246–52 neuromuscular disorders 219–26 paroxysmal disorders 238–46 spina bifida 253–4 neural tube defects (NTDs) 122, 253, 339 neuroblastoma 444, 491, 494, 598 neurocysticercosis 638 neurodevelopmental regression 466–8 neurodisability 276, 346–7, 352–3 neurofibromatosis 87, 558 neurointensive care 116 neurology 203, 216–17 neuromuscular disorders 219–26 neuronal ceroid lipofuscinoses (Batten disease) 235 neuronal pruning 216 neurones 214 neuropathic bladder dysfunction (NBD) 367–8 neuropathies, peripheral 225–32 neuroradiology 525 neurulation 213 neutrophil disorders 206 neutrophils 171 NF1 see neurofibromatosis NICU see neonatal intensive care unit NIDSCED acronym 412 night pains see nocturnal idiopathic pain nitric oxide 151, 186 nitroblue tetrazolium test 205 nitrogen 351 NIV see non-invasive ventilation nocturia 375 nocturnal enuresis 366–7, 396 nocturnal idiopathic pain 507 NODSPE acronym 417 NOF see non-ossifying fibroma non-accidental injury 230–1, 506 non-alcholic steatohepatitis 333 non-directive genetic counselling 78 non-epileptic paroxysmal events 238–9 non-glomerular haematuria 371–2 non-haematological iron deficiency 581 non-Hodgkin lymphoma 599 non-invasive ventilation (NIV) 276 non-ketotic hypoglycinaemia see glycine cleavage defect non-Langerhans cell histocytosis 566–7 non-organic failure to thrive 18, 46–7 non-organic musculoskeletal pains 515 non-ossifying fibroma (NOF) 489 Noonan syndrome 415 normal development emotional and behavioural 40–2 neonatal 577–9 675 personality 40–2 puberty 409–10 normal variant stature 412, 414 normality concepts 45–6 normochromic normocytic anaemia 381 nose 263–4 nosocomial infections 135–6 notifiable diseases 196–7 NPIS see National Poisons Information Service NTDs see neural tube defects nucleosides 70 nucleotides 70 numerical chromosome abnormalities 61–3 nutrition absorption 337–9 allergy 210–11 assessment 351–2 babies 140–2 cardiovascular disease 293 chronic renal failure 380 cystic fibrosis management 272–3 developing countries 641–7 diabetes 397 digestive system 337–9 disease 345–7 health requirements 341–4 intolerance 323–4 iron deficiency 582 metabolic pathways’ importance 447–8 overnutrition 347–9 physiology 337–9 pregnancy and lactation 339–41 professional support 349–51 short bowel syndrome 323 undernutrition 347–9 vitamin B12 and folate deficiency 586 see also diet; food obesity 344, 348–9, 354 diabetes 398 OSAHS 275 tall stature 416 obsessional compulsive disorder 54–5 obstructive sleep apnoea hypopnoea syndrome (OSAHS) 274–6 occipitofrontal circumference (OFC) 247, 251, 407 OCT see ornithine carbamoyl transferase ocular alignment 522 oedema 373–5, 624 oesophageal motility disorders 321 OFC see occipitofrontal circumference Ohtahara syndrome 240, 244 676 Index older children hyperammonaemia 468 liver problems 332–4 metabolic disorders 447 oligohydramnios 122, 360 oliguria 377–9 oncogenes 68 oncology 596–614 ophthalmia neonatorum 532 ophthalmology clinical examination 522–4 development 522 embryology 519–20 genetics 521 investigation 524–5 neonate assessment 127–8, 130 neurodegenerative conditions 237 problems 526–37 screening for disease 525–6 ophthalmoscopy 524 opiate poisoning 95 oppositional behaviour 48–9 opsoclonus myoclonus syndrome 236 optic disc 527, 534–5 optic nerve 527, 537 optic neuritis 534–5 oral rehydration solution (ORS) 315 orbital cellulitis 536 orbital haemorrhage 536 organic acid diseases 236 organic acidaemias 460–1, 467 organoid naevi 548 ornithine carbamoyl transferase (OCT) deficiency 469 ORS see oral rehydration solution orthotopic liver transplantation 334 OSAHS see obstructive sleep apnoea hypopnoea syndrome oscillometry 382 osmotic diarrhoea 314–15 osteomyelitis 495, 497 osteopenia 443 osteoporosis 443 osteosarcoma 489 otitis media 263–4 ‘out of frame’ gene mutations 223 ovarian physiology 421 overdose 96 overlap syndromes, connective tissue disorders 500–1 overnutrition 347–9 oxygen therapy 148 pacemaker insertion 307 pain abdominal 326, 619–20 amplification syndromes 515 analgesia 107 diagnosis 44 management 127, 515 sickle cell disease 609 PAIS see partial androgen insensitivity palivizumab injections 154 pancreas 311, 395, 462, 587 pancreatitis 333 pansystolic murmurs 283 papilloedema 534–5 paracetamol ingestion 95–7 parahippocampal gyrus 250 paralysis, periodic 222 parasitic diseases 188, 632–41 parasomnias 239 Parent Held Child Health Record (PHCHR) 10 parenteral nutrition 141, 352–4 Parkland formula 108 paroxysmal disorders 238–46 paroxysmal nocturnal haemoglobinuria 591 partial androgen insensitivity (PAIS) 439 partial-thickness burns 106 passive immunization 202 patterns of inheritance 68–70 PCD see primary ciliary dyskinesia PCOS see polycystic ovary syndrome PCR see polymerase chain reaction PDA see persistent ductus arteriosus peak expiratory flow (PEP) meter 262–3 peak height velocity (PHV) 410 PEG see percutaneous endoscopic gastrostomy pellagra 644 pelviureteric junction (PUJ) obstruction 359 penile development 439 PEP see peak expiratory flow peptic ulcer disease 322 peptide hormones 405 percutaneous endoscopic gastrostomy (PEG) 350 percutaneous liver biopsy 309–10 pericardiocentesis 103 perinatal infections 177–8 periocular cellulitis 537 periodic paralysis 222 perioral dermatitis 572, 575 peripheral neuropathies 225–6 peritoneal dialysis 379, 381 periventricular haemorrhage (PVH) 151–2, 153 periventricular leukomalacia (PVL) 152–3, 215 peroxisomes 237, 463, 469, 471, 477–8, 480–1 persistent ductus arteriosus (PDA) 143, 283–4 persistent hyperplastic primary vitreous (PHPV) 520 persistent pulmonary hypertension of the newborn (PPHN) 138–9, 143 personality 40–1, 249 pertussis 178, 200, 261, 265–6 pervasive developmental disorders (PPDs) 55–6 pes planus 507 Peutz–Jeghers syndrome 320, 621 PFIC see progressive familial intrahepatic cholestasis phaeochromocytoma 444 phagocytic function 205 PHCHR see Parent Held Child Health Record phenylketonuria (PKU) 4, 88, 137, 346 Philadelphia chromosome 67–8 phimosis 627–8 phobias 50 photodermatoses 577 phototherapy 132, 542 PHPV see persistent hyperplastic primary vitreous PHV see peak height velocity physical abuse 110 physical illness, psychological aspects 43–5 physical injury 15–16 physical neglect 16–17 piebaldism 561 Pierre-Robin sequence 147–8, 157 pin worm see Enterobius vermicularis pityriasis rosea 571–4 PKU see phenylketonuria PKU, screening placenta 121–5, 340 plasma anion gap 391 platelet function abnormalities 605 pleural effusion 191 pneumococcal vaccines 154, 200, 595 Pneumocystis carinii pneumonia prophylaxis 195 pneumonia 145, 266–7 point mutation 75 poisoning 93–4 abuse 15 anaemia 583 heavy metal 221 managing child 94–7 treatment 94 polio vaccines 154, 200 Index poliomyelitis 221 polycystic ovary syndrome (PCOS) 425 polycythaemia 143 polydipsia 375–7, 436–7 polygenic inheritance 69–70 polyhydramnios 219 polymerase chain reaction 76–7 polymorphic light eruption 577 polymyositis 225–6 polyps 319–20 polysomnography, OSAHS 275 polyuria 375–7, 436–7 pompholyx 554–5 porencephalic cysts 151–2 porphyrias 558, 572, 577–8 portal hypertension 331–2 portal venous thrombosis 331 post-enteric arthritis 497–9 post-mortem examinations 119 post-traumatic stress disorder 50 post-viral infections 497 posterior pituitary 435–6 posterior urethral valves (PUV) 360–1 posthaemorrhagic hydrocephalus 152 postnatal medicine infections 177–8, 184 ophthalmic screening 525 renal function 356–7 respiratory system 257–8 potassium 126 PPD see pervasive developmental disorder PPHN see persistent pulmonary hypertension of the newborn Prader–Willi syndrome 62, 67, 219, 437 praecordial examination 292, 294–6 pragmatic language disorders 56 precocious pseudopuberty 421, 422 precocious puberty 421–5 predictive genetic tests 81 pregnancy 121–5, 339–41 preimplantation genetic diagnosis 79–80 premature babies anaemia 588 homoeostatic support 139 metabolic bone disease 514 nutritional requirements 340 parental care 127 water 126 prenatal medicine 355–6, 432, 446–7 pre-school children drowning 111–12 ear, nose and throat problems 263–4 head injury 115, 116 injury patterns 91–2 mental health promotion 39–40 unintentional ingestions 93 see also toddlers preseptal cellulitis 536 preterm babies see premature babies prickly heat see polymorphic light eruption primary adrenal insufficiency 432–4 primary ciliary dyskinesia (PCD) 274 primary congenital hypothyroidism 428 primary immunizations 154 primary mesangial IgA nephropathy 372 primary peritonitis 623 primary polydipsia 375 primary respiratory alkalosis 390–1 primary survey 100–2, 107–8 progressive disorders, see also degenerative disorders progressive familial intrahepatic cholestasis (PFIC) 330 progressive primary tuberculosis 192 proinflammatory cytokines 186 projection 42 prolactin 436 proliferation 214–15 prolonged jaundice 328–9, 454, 457 promotion of mental health 39–40 prophylaxis 301, 364–5, 595–6 proptosis 535–7 protease inhibitors 195 protective isolation 196 proteinuria 368–75 protozoal bacteria 315 prune belly syndrome 361 pseudoglandular stage 257 pseudopuberty 422–3 psoriasis 550–1, 571–5 psychiatric disorders 45–56 psychogenic polydipsia 375 psychophysiological cycles 43–4 psychosocial factors cystic fibrosis 273 growth problems 415 puberty delayed/incomplete 423–4 hormones 405–12 milestones 410–11 physiology 408–13 problems 425 sexual precocity 421–5 pubic hair staging 410 public health 34–5, 93–4, 344 PUJ see pelviureteric junction pulmonary system circulation 258 flow obstruction 298–9 677 hypoplasia 147 measurement of function 262–3 neonatal haemorrhage 145 respiratory tract cysts 259 sequestration 259 stenosis 285 pulseless electrical activity 98–9 pupillary examination 524, 527 pustular lesions 574 PUV see posterior urethral valves PVH see periventricular haemorrhage PVL see periventricular leukomalacia pyelonephritis 364 pyloric stenosis 617–18 pyrexia of unknown origin 187–90 pyridoxine responsive seizures 461, 471 pyruvate kinase deficiency 590 pyuria 363 QRS axis 289–90 QT interval 290 rabies vaccine 201 radioisotopes 358–9 radiology gastrointestinal tract 312 heart disease 288–9 mass detection 613–14 musculoskeletal imaging 485–7 pyrexia of unknown origin 190 serious childhood injury 91–2 tuberculosis 191 radionuclide studies 313 radiotherapy 444–5, 598–9 RAS see reflex asystolic syncope rashes 539, 544, 569–74 Rathke pouch 418 reactive arthritis 497–9 reactive nodes 612–14 reactive tuberculosis 192 rectal bleeding 17 rectal suction biopsy 310 recurrent metabolic acidosis 457, 459–61 recurrent respiratory infection 273–4 red cells 315, 478, 581, 588 red eye 531 red rashes 569–74 red reflex 522, 533–4 reducing substances 311 reference nutrient intake (RNI) 341 reflex asystolic syncope (RAS) 238, 239 reflex epileptic seizures 242 regression 42, 466–7 rehabilitation 230 Reiter syndrome 497–9 renal calculi 371–2 678 Index renal function 126, 355–7 renal transplantation 381 respiratory disorders acidosis 390 acute infections 264–7 cystic fibrosis complications 272 moderate cyanosis 299–300 neonatal 144–8 neurodisability complications 276 recurrent infections 273–4 respiratory system 257–77 assessment 101 growth and development 257–8 malformations 258–60 neonatal 148–51, 258 physiological functions 262–3 resuscitation hypothermia 113 parental training 120 serious injury 102 skills 97–100, 120 stopping 100 sudden unexpected death in infancy 117–18 retinoblastoma 67–8, 89–90, 526 retinopathy 403 retinopathy of prematurity (ROP) 155–6, 526, 528 retrobulbar neuritis 535 retrograde pyelography 359 retroviruses 72 Rett syndrome 235, 236 reverse transcriptase 72, 195 Reye syndrome 461–3 RFs see rheumatoid factors rhabdomyosarcoma 537, 599 rheumatic heart disease 302–4 rheumatoid factors (RFs) 487 rheumatological investigations 486–7 rhinitis 264 rickets 442, 508–9 RNA viruses 166–7 RNI see reference nutrient intake Robertsonian translocations 65–6 ROP see retinopathy of prematurity roseola infantum 182 Rotor syndrome 328 rubella 134, 179, 182, 201 Rubinstein-Taybi syndrome 67 rule of nines 106–7 Russell–Silver syndrome 62 Ruvalcaba–Mehyre–Smith syndrome 320 salt wasting (SW-21-OHD) phenotype 432 sarcoidosis 276, 498 satiety system 436–7 SBR see serum bilirubin scabies 570–1 scalds 15–16 scalp 125, 255 scarlet fever 182 scars 16 SCFE see slipped capital femoral epiphysis schistosomiasis 640–1 schizophrenia 56 school-age children ingestions 53, 93 injury patterns 92 mental health promotion 40 school failure 218–19 school refusal 53 SCIWORA (spinal cord injury without radiological abnormality) 101 sclerodermas 501–2, 503 screening 2, 3–7 congenital adrenal hyperplasia 431, 432 cystic fibrosis 270–1 genetic 80–1 neonatal 137 pregnancy 124 short stature 416 sickle cell disease 591 thalassaemia syndromes 591 scrotal oedema 626 scurvy 508, 644–5 sebaceous naevus see organoid naevi seborrhoeic dermatitis 551, 570, 571, 575 secondary adrenal insufficiency 434 secondary bacterial infection 554 secondary care 10–25 secondary hyperparathyroidism 380–1 secondary survey 102 secretory diarrhoea 314 secretory otitis media 264 sedative-hypnotics 95 seizures epileptic syndromes 239–46 metabolic disorders 461–3, 471 neonatal 153–4 see also convulsions self-harm 51 semantic language disorders 56 sense strand 70 sensory neuropathies 221 sepsis 185–7 septic arthritis 495, 496 septic shock 187 septo-optic dysplasia 419–20 sequestration 147 respiratory tract 259 splenic 609–10 serious childhood injury 91, 100–2 serum bilirubin (SBR) 131 sex determination 437 sex differentiation 437–40 sexual abuse 17–18, 110 sexual precocity 417, 421–3 sexualized behaviour 17–18 shaken baby 16 shearing head injuries 228 sheath meningioma 537 short bowel syndrome 322–3 short stature 156, 412–16 Shwachman syndrome 587 sickle cell anaemia 508, 591, 609–10 sideroblastic anaemia 584 SIDS see sudden infant death syndrome single nucleotide mutations 75 sinus arrhythmia 305 skeletal dysplasias 415, 510 skeletal maturity see bone age assessment skin allergic reactions 541 biopsy 542 immune system disorders 204 see also dermatology skin tests allergy 209 cell mediated immunity 205 tuberculosis 192 SLE see systemic lupus erythematosus sleep disorders 46 sleep patterns 249 slipped capital femoral epiphysis (SCFE) 505–6 SMA see spinal muscular atrophy small intestine permeability tests 310 Smith–Magenis syndrome 67 smoking 121, 260 Snellen acuity chart 523 SNPs see single nucleotide polymorphisms social deprivation 91 social functioning disorders 53–6 social paediatrics 11–25 sodium homoeostasis 357 neonate care 126 SOL see space occupying lesions somatic chromosome abnormalities 67–8 somatic growth 408–9 source isolation, healthcare-associated infection 196 Index southern blotting technique 76 space occupying lesions (SOL) 249–51 see also tumours spasms 242 see also seizures spasticity 232, 233 spherocytosis 605–7 sphygmomanometry 382 spina bifida 69–70, 253–4 spinal cord injury 101 spinal fusion 224 spinal muscular atrophy (SMA) 221, 224–5 spitz naevus 550 splenic sequestration 609–10 squint see ocular alignment SSNS see steroid sensitive nephrotic syndrome standard deviations, growth charts 408 staphlococcal scalded skin syndrome 563 Starting Well Demonstration Project stem cell transplantation 600 steroid induced acne 575 steroid sensitive nephrotic syndrome (SSNS) 373–4 steroids excess 433–5 hormones 405 synthesis 429–30 Stevens–Johnson syndrome 532–3 Stickler syndrome 507 Still’s murmur 296 stools chromatography 311 inflammatory bowel disease 318 marker studies 312 parasitic diseases 632 pH test 311 storage disorders dysmorphic syndromes 469 glycogen 454–5 lysosomal 480 ‘strange child’ disorders 53–6 stress fractures 507 stress incontinence 367 stridor 260, 261–2 stroke cerebral palsy 233 neonatal 153 sickle cell disease 610 Strongyloides sterocalis 638 structural chromosome abnormalities 63–6 subcutaneous fat necrosis 545 subdural fluid collections 230–1 submicroscopic chromosome abnormalities 75–6 substance abuse 53 sucrose-isomaltase deficiency 316 sudden infant death syndrome (SIDS) 116–17, 119, 120 sudden unexpected death in infancy (SUDI) 116–19 sugar loading tests 310 suicide 51 superfical burns 106 supraventricular tachycardia (SVT) 305–6 surfactants 144 surgery, endocrine effects 443 surveillance 2, 3–7 susceptibility to infection 161, 167–8 suspected congenital heart disease 297–300 SV-21-OHD see simple virilizing SVT see supraventricular tachycardia SW-21-OHD see salt wasting swinging flashlight test 524 sympathomimetics 95 symptomatic epileptic seizures 241 syncope 238–9, 242 synovitis 497 syphilis 180 systemic diseases 415 systemic lupus erythematosus (SLE) 486–7, 500–1, 572, 576 systemic sclerosis 501, 502 systolic murmurs 295 T-cells 171–2, 205–6 T lymphocytes 207 tachycardia 305–6 talipes equinovarus 510, 511 tall stature 416 tapeworms see cestodes TAR see thrombocytopenia and absent radius syndrome technetium-MDP bone scan 488 telephone advice, poisoning 93–4 temperature regulation 125–6 tension headache 254–5 teratogens 122 tertiary adrenal insufficiency 434 tertiary care 11 testes absent testis 625–6 developmental disorders 440 physiology 421 testicular torsion 393, 626 tetanus vaccine 201 tetralogy of Fallot 298 679 TGA see transposition of the great arteries thalassaemia syndromes 584–5, 591, 608–9 see also ␤-thalassaemia thelarche variant 423 therapeutic contrast studies 313 thin basement membrane nephropathy 372 third-degree heart block 306–7 third ventriculostomy 248 thirst 396 thread worms 624, 636–7 ‘thrifty phenotype’ hypothesis 156 thrill 294 thrombocytopenia and absent radius syndrome (TAR) 605 thrombocytopenia 159, 595, 601, 605 thymus 172 thyroglossal cysts 615–16 thyroid axis 426–30 tic disorders 54–5 tinea corporis 571, 574 TIPSS see transjugular intrahepatic portosystemic shunting toddlers challenging behaviour 47 diabetes 403 nutritional requirements 343–4 see also pre-school children TOF see tracheo–oesophageal fistula tolerance failure 207 tonic-clonic epileptic seizures 239, 242 tonic epileptic seizures 242 tonsillitis 264 torticollis 514–15 total parenteral nutrition (TPN) 350 TOXBASE 93 toxic epidermal necrolysis 574 toxic erythema 571 toxic neuropathies 222 toxic shock syndrome 190–1 toxidromes 94, 95 toxins, Reye syndrome mimicking 461 toxoplasmosis 135, 179 TPN see total parenteral nutrition tracheitis 265 tracheo–oesophageal fistula (TOF) 259 transaminase 223 transcutaneous bilirubinometry 131 transferrin 584 transfusions 593–5 transient tachypnoea of the newborn (TTN) 138 transit studies 325 680 Index transjugular intrahepatic portosystemic shunting (TIPSS) 331 transjugular liver biopsy 310 translocation of chromosomes 63–4 transplantation bone marrow 444 liver 334 renal 381 stem cells 600 transposition of the great arteries (TGA) 298 traumatic injury 114, 623, 625 triad syndrome 361 triage, burns 106–7 Trichuris trichuria 636 tricyclics 95 trinucleotide repeat mutations 75–6 tropical paediatric medicine 629–47 truancy 53 true precocious puberty 421–3 tyrosinaemia type 457, 458, 471 TS see Turner syndrome TTN see transient tachypnoea of the newborn tuberculosis 191–3, 495, 496, 630 tuberous sclerosis 560, 572 tumour lysis syndrome 601 tumour suppressor gene 67–8 tumours 249–51 brain 599–600 cartilage, bone and muscle 492, 495 groin and genitalia 625 Turcot syndrome 320 Turner syndrome (TS) 65, 69, 414–15 type diabetes epidemiology 395 nutritional management 346 prevention 399 see also diabetes type spinal muscular atrophy 85 type diabetes 346 see also diabetes typhoid vaccines 201 tyrosinaemia 330 ulcerative colitis 317–18 ulcers 322 ultrasound cardiovascular disease 290–1 eye 525 fetus 124 gastrointestinal disease 313 intussusception 620 jaundice assessment 131 urinary tract imaging 358 umbilical cord bilirubin levels 131 unconjugated jaundice 132, 327–8 undermasculinization 439–40 undernutrition 347–9 undescended testis 392 unilateral conjunctivitis 532 uniparent disomy (UPD) 61–3, 64 upper airway malformations 259–60 ‘upper tract’ urinary symptoms 364 upward gaze impairment 249 ureterocele 362 urge incontinence 367 urinary anion gap 391 urinary concentrating capacity 357 urinary tract problems acid-base abnormalities 390–2 acute renal failure 377–9 chronic renal failure 379–82 common problems 392–3 embryology 355–6 enuresis 366–8 fetal uropathy 359–63 fluid and electrolyte abnormalities 385–90 haematuria 368–73 hypertension 382–5 imaging 358–9 infection and related problems 363–5 oedema 373–5 oliguria 377–9 polydipsia 375–7 polyuria 375–7 postnatal renal development 356–7 prenatal development 355–6 proteinuria 368–73 urticaria 566–7, 569–72, 573, 576 uveitis 493 vaccines active immunization 198–201 failure 197 UK schedules 203 see also immunization Valsalva manoeuvres 238 varicella zoster immunoglobulin 153–4, 202 varicella zoster virus (VZV) 181, 201 varicocele 626 vascular anomalies and malformations 546–8 vasculitis 502–5 vasovagal syncope 238, 239 velcardiofacial syndrome 67 ventricular drain 251 ventricular ectopics 305 ventricular fibrillation 99 ventricular hypertrophy 290 ventricular septal defect (VSD) 282–3 ventricular shunt 248 ventricular tachycardia 306 ventriculostomy 251 VEP see visual evoked potential very-long-chain acyl CoA dehydrogenase (VLCAD) deficiency 464–5 vesicoureteric reflux 362, 365 viral infections acute diarrhoea 315 classification 161, 166–7 dermatology 540 pyrexia of unknown origin 188 respiratory tract 264–7 visceral hyperalgesia 326 visceral larva migrans 637–8 visceral leishmaniasis 634–5 visible cytogenic abnormalities 76 visual assessment 30, 131, 523 visual development 519, 522 delay 218 dendritic branching and neuronal pruning 216 problems 155–6, 527–30 screening 6, 7, 29–31 visual evoked potential (VEP) 524 visual fields 523–4 vitamin A 642–3 vitamin B12 586–7 vitamin D 440–3 vitamin K 3, 592 vitamins 338–9, 471, 475–6 vitreous opacity 527 VLCAD see very-long-chain acyl CoA dehydrogenase VLM see visceral larva migrans volvulus 618–19 vomiting 313–14, 617–19 bile-stained 142, 618–19 blood 18 cyclical vomiting syndrome 327 von Hippel–Landau disease siblings 526 von Willebrand disease 611 VSD see ventricular septal defect VSV see varicella zoster virus vulnerable groups 2, VZ see varicella zoster walking development 485–6 difficulty 217–18, 221, 507 warm autoimmune haemolytic anaemia 607 warming techniques 113 warts 562, 564 Index water homoeostasis 357 neonate care 126 weakness 223 weaning 140–1, 342 weight faltering 416 somatic growth 408 Werdig-Hoffman disease see type spinal muscular atrophy West syndrome 240, 244 ‘wet lung’ see transient tachypnoea of the newborn wetting see enuresis wheezing 260, 268 whipworm see Trichuris trichuria white cell scanning 313 white pupil 527, 533 whole bowel irrigation 95 whole cell pertussis 200 Williams syndrome 67 Wilms’ tumour 392–3, 520, 598 Wilson disease 237, 333–4 Wiskott–Aldrich syndrome 605 Wolff–Parkinson–White syndrome 305, 306 Wood light 539 wound management 108 X chromosome 69, 206, 438–9, 561 X-linked inheritance 69 xeroderma pigmentosum 561, 577 xeropthalmia 642 Y chromosome 438–9 yeast infections 562, 565–6 zinc 351, 645 681 ... and treatment J Pediatr Gastroenterol Nutr 29 :6 12 26 British Society of Gastroenterology www.bsg.org.uk (accessed 14 November 20 04) British Society of Paediatric Gastroenterology, Hepatology and... November 20 04) Children’s Digestive Health and Nutrition Foundation www.cdhnf.org (accessed 14 November 20 04) Coeliac UK www.coeliac.co.uk (accessed 14 November 20 04) Fasano A, Catassi C (20 01)... endoscopy www.gastrohep com (accessed 14 November 20 04) Hassall E (20 01) Peptic ulcer disease and current approaches to Helicobacter pylori J Pediatr 138:4 62 8 Journal of Pediatric Gastroenterology and

Ngày đăng: 20/01/2020, 12:54

Từ khóa liên quan

Mục lục

  • Book title

  • Contents

  • Contributors

  • Foreword

  • Preface

  • 1 Community child health, child development and learning difficulties

  • 2 Behavioural and emotional problems

  • 3 Clinical genetics

  • 4 Acute illness, injuries, and ingestions

  • 5 Fetal and neonatal medicine

  • 6 Problems of infection, immunity and allergy

  • 7 The nervous system

  • 8 The respiratory system

  • 9 Cardiovascular disease

  • 10 Gastrointestinal system, hepatic and biliary problems

  • 11 Nutrition

  • 12 Urinary tract problems

  • 13 Diabetes

  • 14 Endocrinology

  • 15 Metabolic disorders

Tài liệu cùng người dùng

  • Đang cập nhật ...

Tài liệu liên quan