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José M Moreno-Villares • Isabel Polanco
An Atlas of Investigation and Management
José M Moreno-Villares, MD
Nutrition Unit Department of Paediatrics Hospital Universitario 12 de Octubre Madrid, Spain
Isabel Polanco, MD, PhD
Professor of Paediatrics Head of Department of Paediatric Gastroenterology and Nutrition Hospital Infantil Univeritario La Paz Facultad de Medicina, Universidad Autónoma Madrid, Spain
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MD. MD vi vi viii 1 9 Liver disease Cholestasis PIOTR SOCHA. IRASTORZA TERRADILLOS. MD. AND MARÍA JOSÉ GALIANO SEGOVIA. BEGOÑA POLO MIQUEL. TOVAR. PHD. AND ANTONIO MONICA GUERRA. AND AGUSTÍN NOGUÉS. MD. MD. MD. AND ANIL DHAWAN. MD 65 16 Paediatric clinical dietetics AMAYA PEÑALVA ARIGITA. MD. MD 10 Coeliac disease ISABEL POLANCO. JERÓNIMO GONZÁLVEZ. FRCPCH Hypertransaminasaemia in childhood LUÍS PEÑA-QUINTANA. MD 15 Paediatric appendicitis ADOLFO BAUTISTA CASASNOVAS. MD 2 Vomiting JOSÉ M MORENO-VILLARES. AND CARMEN RIBES-KONINCKX. MD. MD. MD. ANGEL MAZÓN. MD. MD. MD 14 Congenital gastrointestinal malformations IÑAKI EIZAGUIRRE. JOANNA PAWŁOWSKA. MD 12 Crohn’s disease DAVID ZIRING. AND DANIEL GONZÁLEZ-SANTANA. PHD 4 Constipation CAROLINA GUTIÉRREZ. MD. AND JUAN C.Contents Preface Contributors Abbreviations 1 Failure to thrive in infants and children JOSÉ M MORENO-VILLARES. MD 3 Diarrhoea Acute diarrhoea ENRIQUETA ROMÁN RIECHMANN. PHD 6 Gastrointestinal bleeding GEORGE GERSHMAN. MD. RD Index 117 5 Abdominal pain in childhood 46 IÑAKI X. PHD 7 Cow’s milk allergy ANTONIO NIETO. PhD 72 84 84 92 11 99 104 AND 110 AND 13 Short bowel syndrome JAVIER BUENO. JAVIER BLASCO ALONSO. MD 56 124 134 AND 144 155 . MD. VITORIA CORMENZANA. MD. MD. JORGE VARGAS. MD. MD. MD 34 AND 8 Abdominal masses JUAN A. MD. MD Chronic diarrhoea ANGELES CALZADO AGRASOT. PHD 19 19 25 11 Ulcerative colitis CARLOS SIERRA SALINAS.
and nutrition – constitute the body of this book. MD Isabel Polanco MD. MD. Hepatology and Nutrition Division Hospital Materno-Infantil Málaga. MD Paediatric Liver Transplantation Unit Paediatric Surgery Department Hospital Valle de Hebrón Barcelona. MD Centro de Salud Maria Montessori Leganés Madrid. PhD Head of Paediatric Surgery Section University Hospital of Santiago de Compostela Santiago de Compostela. Spain María José Galiano Segovia. It has been a pleasure to work with Clinical Publishing’s production team who have helped to produce a book of outstanding quality. hepatology.vi Preface Paediatric gastroenterology emerged as a speciality in the 1960s. Spain . Topics on the three main areas of the speciality – gastroenterology. We hope and expect that this Atlas will be of benefit to all physicians dealing with gastrointestinal problems in children. FRCPCH Paediatric Liver Centre Institute of Liver Studies Variety Club Children’s Hospital King’s College Hospital London. MD. PhD Paediatric Surgery Department Donostia Hospital San Sebastian. but there are not so many based on excellent figures and comprehensive tables. The recognition that appropriate nurition during infancy and childhood is vital for health and the profound impact that many gastrointestinal diseases may have upon growth also contributed to the discipline’s development. as well as the development of complex new therapies for children with gastrointestinal disorders. Since then it has become an essential component of major academic paediatric programmes throughout the world. MD Paediatric Gastroenterology and Hepatology Unit Hospital La Fe Valencia. Paediatric Gastroenterology. Spain George Gershman. Our most sincere thanks to them. PhD Contributors Adolfo Bautista Casasnovas. MD. MD. The introduction of new diagnostic techniques that required special skills. Spain Mª Ángeles Calzado Agrasot. and effort in preparing their chapters. Spain. Spain Anil Dhawan. Division of Pediatric Gastroenterology and Nutrition Harbor-UCLA Medical Center Torrance California. José M Moreno-Villares. The authors were carefully selected to provide a comprehensive and clear account of their assigned topics. All of them have been willing to dedicate their time. Spain Javier Blasco Alonso. Javier Bueno. An Atlas of Investigation and Management. were cornerstones in the development of the speciality. knowledge. MD. MD Gastroenterology. provides concise and practical information for readers. PhD Associated Professor of Paediatric Surgery Department of Paediatric Surgery University General Hospital Albacete. PhD Associate Professor of Pediatrics David Geffen School of Medicine Chief. USA Jerónimo Gonzálvez Piñera. UK Iñaki Eizaguirre. Many excellent paediatric gastroenterology texts have been published since the first textbook on the subject was published in the early 1970s.
MD. MD Paediatric Gastroenterology Division Las Palmas de Gran Canaria University Hospital Universitario Materno-Infantil de Canarias Spain Antonio Monica Guerra. Hepatology and Immunology The Children’s Memorial Health Institute Warsaw. Spain Antonio Nieto. Poland Juan A. Spain Joanna Pawłowska. Portugal Carolina Gutiérrez Junquera. PhD Associated Professor of Paediatrics Department of Pediatric Gastroenterology University General Hospital Albacete.Contributors vii Daniel González-Santana. Spain Carmen Ribes-Koninckx. MD Paediatric Gastroenterology Division Hospital de Cruces Bilbao. MD Department of Gastroenterology. MD. Irastorza Terradillos. Spain Angel Mazón. MD Division of Gastroenterology and Nutrition Department of Paediatrics Mattel Children’s Hospital at UCLA Los Angeles. Spain Piotr Socha. MD Division of Gastroenterology and Nutrition Department of Paediatrics Mattel Children’s Hospital at UCLA Los Angeles. USA . Spain Iñaki X. MD Department of Paediatrics Hospital de Fuenlabrada Madrid. Spain Enriqueta Román Riechmann. PhD Professor of Paediatrics Head of Department of Paediatric Gastroenterology and Nutrition University Hospital La Paz Universidad Autónoma Madrid. MD Paediatric Allergy Division Hospital Infantil La Fe Valencia. USA Juan C. PhD Paediatric Allergy Division Hospital Infantil La Fe Valencia. Hepatology and Immunology The Children’s Memorial Health Institute Warsaw. MD Nutrition Unit Department of Paediatrics University Hospital 12 de Octubre Madrid. Poland Luis Peña-Quintana. Hepatology and Nutrition Division University Hospital Universidad de Las Palmas de Gran Canaria Spain Amaya Peñalva Arigita. MD Paediatric Gastroenterology and Hepatology Division Hospital La Fe Valencia. Hepatology and Nutrition Division Hospital Materno-Infantil Málaga. Tovar. MD. Spain Carlos Sierra Salinas. MD. Vitoria Cormenzana. Moreno-Villares. Spain Isabel Polanco. RD University Hospital Valle de Hebrón Barcelona. Spain José M. MD. PhD Professor and Chief. PhD Professor of Paediatrics Basque Country University Chief. MD. MD. MD Gastroenterology. MD Paediatric Radiology Department Donostia Hospital San Sebastian. Spain David Ziring. MD Paediatric Gastroenterology. Department of Paediatric Surgery University Hospital La Paz Madrid. MD Department of Gastroenterology. Spain Agustín Nogués. PhD Paediatric Gastroenterology and Hepatology Division Hospital La Fe Valencia. Spain Begoña Polo Miquel. PhD Nutrition Unit University of Porto Porto. Paediatric Gastroenterology Division Hospital de Cruces Bilbao. Spain Jorge Vargas.
and Nutrition FGID functional gastrointestinal disorders FTT failure to thrive GER gastro-oesophageal reflux GERD gastro-oesophageal reflux disease GFD gluten-free diet GGT gamma glutamyl transpeptidase GI gastrointestinal GIST gastrointestinal stromal tumour GN ganglioneuroma Hb haemoglobin HB hepatoblastoma HC head circumference Hct haematocrit HD Hirschsprung’s disease HIV human immunodeficiency virus HP Helicobacter pylori HPN home parenteral nutrition HSP Henoch–Schönlein purpura HUS haemolytic uraemic syndrome IBD inflammatory bowel disease IBS irritable bowel syndrome IF infant formula IDI intractable diarrhoea of infancy IGF-1 intestinal growth factor IL interleukin INSS International Neuroblastoma Staging System IQ intelligence quotient LA laparoscopic appendectomy LDH lactate dehydrogenase LF lactose-free (formula) LKM liver/kidney microsomal antibodies MAC middle arm circumference MCV mean cell volume MIBG meta-iodine-benzyl-guanidine MRI magnetic resonance imaging NAFLD nonalcoholic fatty liver disease NASH nonalcoholic steatohepatitis NB neuroblastoma NEC necrotizing enterocolitis NK natural killer cells NKT natural killer T cells NPD negative predictive value NSAID nonsteroidal anti-inflammatory drug OA open appendectomy OCTN organic cation transporter gene ORS oral rehydration solution ORT oral rehydration therapy pANCA anti-neutrophil cytoplasmic antibody with perinuclear staining pattern PFIC progressive familial intrahepatic cholestasis PH partially hydrolyzed (formula) Pi protease inhibitor PN parenteral nutrition PPV positive predictive value RAST radioallergosorbent test RDA recommended dietary allowances RDW red blood cell differentiation width RNA HCV hepatitis C virus RNA SBS short bowel syndrome Sc scoop SE semi-elemental (formula) SGOT serum glutamic oxalacetic transaminase SGPT serum glutamic pyruvic transaminase SIOP Societé Internationale d´Oncologie Pédiatrique STEP serial transverse enteroplasty TPN total parenteral nutrition TNF tumour necrosis factor TS tricipital skinfold TSH thyroid stimulating hormone UC ulcerative colitis UPDG galactose-1-phosphate-uridyl transferase US ultrasonography WBC white blood count WD Wilson´s disease WI Waterloo index WHO World Health Organization .viii Abbreviations α1-ATD alpha-1-antitrypsin deficiency AAP American Academy of Pediatrics AFP alpha-fetoprotein AIH autoimmune hepatitis ALT alanine aminotransferase AMA antimitocondrial antibodies ANA antinuclear antibodies APC antigen-presenting cell ASCA anti-Saccharomyces cerevisiae antibodies ASMA antismooth muscle antibody AST aspartate aminotransferase BA biliary atresia BMI body mass index BRIC benign recurrent intrahepatic cholestasis Btl. Hepatology. bottle BUN blood urea nitrogen CD coeliac disease CFU colony-forming units CK creatine kinase CM cow’s milk CMA cow’s milk allergy CMV cytomegalovirus CNS central nervous system CPM caloric–protein malnutrition CrD Crohn’s disease CT computed tomography CTT colonic transit time Da Dalton DH dermatitis herpetiformis DNA HBV hepatitis B virus DNA EBV Epstein–Barr virus EC endoscopic capsule EF elemental formulas EH extensively hydrolyzed (formula) EIA enzyme immunoassay ERCP endoscopic retrograde cholangiopancreatography ESPGHAN European Society of Pediatric Gastroenterology.
and Antonio Monica Guerra. Weight is a measure of the varying combination of height. Usually head circumference. Reduction in >2 major percentiles for weight. in either direction. not become pathological. generally under 3 years. usually the third (1. more severe in the last 2 weeks. and then on an intermittent basis throughout the rest of childhood. because of its widespread availability and ease of measurement. An alternative definition applies when a child has a weight curve that has fallen more than two standard deviations or Estudio Longitudinal de Crecimiento. Undernutrition or ‘failure to thrive’ (FTT) is a common nutritional problem in the infant and toddler paediatric population. Nevertheless. weight at birth is a reflection of the intrauterine environment and is of limited prognostic value. weight. When a divergence from the standard growth curve occurs. Although the most commonly used definition of abnormality is that falling below a predetermined centile. Many children deviate from their earlier centile position. The identification of patients with FTT is a routine part of residency training in paediatrics. this would include a number of constitutionally small children.1). with growth faltering in the last 4–5 months. Inappropriate nutrient intake and growth parameters FTT is a clinical label frequently used to describe infants and young children. Curvas de 0 a 18 años Instituto de Investigación sobre Crecimiento y Desarrollo FUNDACIÓN ORBEGOZO. it is the most usual tool when growth measure is considered. and length are measured at birth.1)? It is often assumed that normal growth constitutes tracking along the birth centile. who fail to grow as expected using established growth standards for age and gender along a period of time (usually longer than 3 months) (1.1 Eleven-month-old male. MD Introduction Evaluation of growth and development in the primary care setting is a cornerstone of paediatric care. (Bilbao-España) . and muscle bulk. However. body fat. a careful assessment is required to determine the aetiology.Chapter 1 1 Failure to thrive in infants and children José M Moreno-Villares. which makes it a less straightforward measure of growth than height. and this divergence may 1.2). MD. What constitutes a normal rate of weight gain (Table 1.
FTT is not a final diagnosis but a description of a physical state. up to 30% of healthy term infants cross one percentile line and 23% cross two percentile lines (in either direction) by the age of 2 years. The World Health Organization (WHO) has recently published charts resulting from the Multicenter Growth Reference Study.2 Failure to thrive in infants and children percentiles below a previously established rate of growth. therefore.who. which has been recommended for international use since the late 1970s (www.1 Normal weight gain and frequency of monitoring Normal weight gain Birth to 5 months 6 to 12 months 12 months to 2 years 2 years to 6 years Frequency of monitoring Monthly for the first two months. Definition of FTT FTT describes an infant or child whose current weight or rate of weight gain is significantly below that expected of similar children of the same age and sex. every 3rd month from 6 to 24 months. 1. Curvas de 0 a 18 años Instituto de Investigación sobre Crecimiento y Desarrollo FUNDACIÓN ORBEGOZO. Weight below 3rd percentile.5). Estudio Longitudinal de Crecimiento. Most paediatricians diagnose FTT when a child’s weight for age falls below the fifth percentile of the standard growth charts or it crosses two major percentile lines (1. This problem may be overcome if universal growth references could be used. Table 1.2 An 18-week-old female.3). and yearly from 2 to 6 years old 15–30 g/day 15 g/day 6–8 g/day 38 g/month Estudio Longitudinal de Crecimiento. Curvas de 0 a 18 años Instituto de Investigación sobre Crecimiento y Desarrollo FUNDACIÓN ORBEGOZO. However.3 Four-month-old male.int/childgrowth/standards/curvas_por_indicador es/en/index. with irritability and poor weight gain since birth. and are intended to substitute for the National Center for Health Statistics/WHO (NCHS/WHO) growth reference. every other month from 2 to 6 months. (Bilbao-España) 1. 1. misinterpretation may occur if different genetic backgrounds are not considered.4. (Bilbao-España) .html) (1. Because the description itself is vague it has been proposed to use growth failure or undernutrition as a diagnostic replacement for FTT. One problem arises from the use of different growth charts. a cause must always be sought. Loss of >2 major percentiles since birth.
Organic causes Nonorganic causes False failure to thrive Aetiology FTT has been historically dichotomized as organic versus nonorganic (1. Until recently. This approach is quite simplistic and inadequate for patient management.4 WHO growth curves.6). There is growing evidence that feeding difficulties are 1. .5 WHO growth charts. while nonorganic FTT is generally a diagnosis of exclusion. Family stressors. A third category has been added. central to the development of the disorder. and disturbances in the infant–parent relationship may interfere with the development of an adequate feeding relationship. to recognize the fact that many organic FTT often have a psychological component. B 1. Length/height for age (girls). Feeding is an interactive process that depends upon abilities and characteristics of both the parents and the child. psychiatric disorders of parents.Failure to thrive in infants and children 3 A A B 1. the evaluation of a child with FTT focused on factors related to external environment or to medical causes. Currently. mixed FTT. the child’s feeding behaviour and the interaction between the caregiver and the child has taken on greater importance. Height/length for age (boys). Organic FTT results from a major organ system illness or dysfunction.6 Aetiology of FTT.
4 Failure to thrive in infants and children It is important to note that an infant presenting with presumed FTT may have a normal variant of growth1.g. for instance. parent–infant interaction problems • Lack of appetite – Chronic illness – Psychosocial disorder • Mechanical feeding difficulties. oral-motor dysfunction or malformation Reduced absorption or digestion of nutrients • Pancreatic insufficiency: cystic fibrosis • Loss or damage to villous surface – Coeliac disease – Cow’s milk protein allergy – Vitamin or mineral deficiencies • Cholestasis Excessive loss of nutrients • Vomiting – Gastro-oesophageal reflux – Other causes of vomiting: central nervous system disorders. chronic lung disease) • Hyperthyroidism • Malignancy . too diluted formula) – Poverty and food shortages – Neglect – Feeding technique. e.2 Normal variants of growth presenting as FTT Genetic short stature Birth weight Low to normal Ex-premature infant Normal if corrected for gestation Normal Low if corrected but follow percentile curves Constitutional delay Low to normal Catch down growth Above expected for genetic background Normal Initial fall in 6–12 months and then follow percentiles Parental percentiles Progress along percentiles Low Low percentile but do not cross percentiles Normal May be an initial fall in first 6 months and then follow percentiles Table 1. 3. Classification of FTT by pathological causes Inadequate caloric intake • Food not available – Type or volume of food not appropriate (e. infants with intrauterine growth retardation or premature infants. Specific infant populations with growth variations also need to be considered when making the diagnosis of FTT. metabolic disease • Malabsorption/diarrhoea – Inflammatory bowel disease – Short bowel syndrome • Renal losses – Renal failure or tubular acidosis – Diabetes mellitus or diabetes insipidus Defective utilization • Chromosomal or genetic abnormality • Metabolic disorder • Endocrine disorder • Congenital infections Increased metabolism • Chronic infection or inflammation • Hypoxaemia (congenital heart disease.g. Table 1.
3. chromosomopathies and other genetic conditions. The evaluation should include an assessment of the diet and eating behaviours.9 Algorithm of management of FTT in primary care. Prader–Willi syndrome) (1. as shown in Table 1. social.g. e. 1. A more useful classification of FTT is then based on pathophysiology.9). 1.4)3. Noonan syndrome. 1.g.7.2)2. and family history. There are also growth curves available for syndromes with abnormal growth (e. have their own growth rate and deserve specific growth curves. past and current medical. There are many reasons why an infant does not take on adequate nutrition. and should include a complete physical examination (Table 1. Most likely normal variant of growth FFT is suspected Clinical history Physical examination Assessment of intake Red flag signs Basic laboratory investigations Hospital Organic failure to thrive Yes Anomalous results? No Nonorganic failure to thrive Treatment – primary care Success Follow up Nutritional advice Psychological support Lack of success Further work up/treatment – hospital . A 1. Evaluation History and examination The history is essential in defining the underlying cause of growth failure in children (1.8 Patient with a Silver–Russell syndrome.8). Down syndrome.Failure to thrive in infants and children 5 Within the group of normal variants of growth presenting as FTT. Down syndrome. four main patterns occur (Table 1.7 Patients with special conditions.
accidents • Vomiting? Social history • Who lives in the home? • Who are the caregivers? • Who helps to support the family? • What is the child’s temperament? • Any family problems? Family history Past and current medical history • Obstetric history • Birth history. Further examination beyond growth should include physical examination (1. puberal assessment. Occasionally further assessments are performed such as mid-upper arm circumference. if indicated. gastroenteritis • Medical conditions or FTT in siblings • Growth pattern in other members of the family. and head circumference. sodas) Feeding history • When does the child eat? Where? With whom? • Breastfed? • Positioning of the child • Feeding battles • Snacking • Are they recurrent? • Chronic medical conditions • Past hospitalizations. body proportions and. . various skin fold thicknesses. An accurate assessment of growth requires the evaluation of current and past parameters including height or length. juices. stigmas of underlying syndromes.5 Classification of undernutrition in children15. including inspection of any physical sign of neglect or abuse. including weight and height • Neonatal period • Recent acute illness especially upper airway infections.10). skin rashes. especially parents and siblings • Mental illness Table 1. The severity of a child’s undernutrition can be classified most easily using the Waterlow and Gomez criteria (Table 1. weight. injuries.4 Evaluation of medical history in FTT Dietary history • Amount of food and/or formula • Is the formula prepared correctly? • Food patterns: types of foods. as a percentage of the median for age.5). otitis. and observation of feeding if possible.6 Failure to thrive in infants and children Table 1. 16 Normal Weight for age (%) Weight for height (%) Height for age (%) >90 >90 >95 Mild risk 75–89 80–90 95–90 Moderate risk 60–74 70–79 89–85 High risk <60% 70% <85% thorough psychosocial history is mandatory. dysmorphic features. especially beverage consumption (milk.
A well-targeted battery of investigations may provide guidance. ammonia.6). bilirubin • Urinalysis • Urine culture Second step • Acid–base balance • Immunoglobulins • Coeliac screen • Thyroid function test • Bone age • Stool microscopy and culture Third step (if clinically indicated or abnormal data from the initial investigations) • Metabolic screen (blood and urine for organic acids and amino acids.10 Clinical signs of malnutrition in a patient with FTT who was found to have coeliac disease.Failure to thrive in infants and children 7 Observing or videotaping the interaction between a parent and a child. ferritin. Investigations Laboratory evaluation should be guided by history and physical examination findings only. Table 1. especially during a feeding session in the office. because the majority of children with FTT have no laboratory abnormalities. lytes • Iron status: iron. 1. There are no routine laboratory tests that should be performed on every child. lactic/pyruvic acids. ketone bodies in urine) • Karyotype • Allergy investigations • Sweat test • pHmetry/endoscopy . % saturation • Blood glucose • Liver function tests: GGT. alkaline phospatase. a simple initial sequence can be performed (Table 1. transferrin. In those requiring investigation. SGOT.6 Investigations in failure to thrive Initial evaluation • Full blood examination/erythrocyte sedimentation rate or C-reactive protein • Chemistry panel: urea. SGPT. creatinine. may provide valuable information about the aetiology of FTT4.
based on their expected. high energy snacks may improve their nutritional status6. Evaluation and treatment is generally accomplished in outpatient settings rather than in the hospital. that provide 1. Toddlers can receive more calories by adding cheese. Dietary recommendations Children with FTT will need 150% of the recommended daily caloric intake. including the suppression of appetite and sometimes the modification of feeding behaviour. Concentrate formula (powder) Add modules Infant formula 13% (68 kcal/100 ml) 1 measure in 26 ml Concentrate formula to 15% (78 kcal/100 ml) Add maltodextrin 5 g/100 ml (20 kcal) 88 kcal/100 ml 1 measure in 23 ml Concentrate formula to 17% (89 kcal/100 ml) Add MCT oil 2 ml/100 ml (16 kcal) 104 kcal/100 ml 1 measure in 20 ml Concentrate formula to 20% (105 kcal/100 ml) Add maltodextrin 5 g/100 ml (20 kcal) 124 kcal/100 ml 1. allowing exact caloric requirements to be calculated. If all these attempts fail it may be necessary to consider nasogastric tube feedings as a last resort (1.11 There are two ways to increase the caloric intake in an infant: to increase the strength of the regular formula or to add caloric modules (carbohydrates or lipids or both) to the regular formula. The advantages are ensuring adequate caloric intake and decreasing or eliminating some of the emotional stress and frustrations with feeding times. . Most cases can be managed by nutrition intervention or feeding behaviour modification. Addressing identified issues of attachment and other psychosocial issues is crucial and often requires input from a multidisciplinary team. not actual.12)7. As most of these children lack the normal responses to internal hunger/satiation cues. In toddlers and older children we can also use high-calorie milk drinks. However. butter.0–1. In infants this increased caloric intake may be accomplished by concentrating the infant formula or adding carbohydrates or lipids to the formula or the puréed foods (1. weight for height if tolerated5. Asking the parent to write down the type of food and amounts a child eats over a 3-day period is one way of quantifying caloric intake. there are also disadvantages.8 Failure to thrive in infants and children Treatment Medical intervention is dictated by the disease diagnosed. and so on to common toddler foods. Nutritional rehabilitation by means of increased caloric intake is often best supervised with the advice of an experienced dietician.11).5 kcal/ml. Vitamin and mineral supplementation is also sometimes required.
This small difference is of questionable clinical significance. it is often difficult to disentangle the effects of FTT from those of the high-risk environments in which FTT often occurs (poverty. to decrease the risk of adverse effects. Encourage your child. Hospitalization is rarely required and may be counterproductive8. and developmental delay9–12. with different definitions and designs. providing useful guidance for parents (Table 1.or herself 8 Try to eat together as a family 9 Establish a maximum time to finish a meal (for instance 30 minutes) 10 Limit possible distractions during meals . Paediatricians can intervene effectively in many feeding problems. 5 Establish a routine of meals and snacks and set times 6 Recognize your child’s cues indicating hunger. or if the FTT is severe. and poor parental coping skills). behaviour problems. Tips for preventing food hassles 1 Make mealtimes pleasant 2 Avoid battles over eating.7). not as a reward or punishment 3 You are responsible for deciding what food your child is offered. family stress. satiety. However. especially if an organic condition is underlying. and food preferences 7 Accept your child’s wish to feed him. it is important to recognize and treat FTT promptly. This patient has biliary atresia and FTT. Outcomes It is ascertained that children with FTT are at risk of adverse outcomes such as short stature. Rudolph and Logan found only a small difference in intelligence quotient (IQ) (equivalent to 3 IQ points) in children with FTT compared to their peers13. The height and weight differences in their analysis were larger. it is necessary to provide enteral nutrition through a nasogastric tube. In addition. Sometimes this necessitates the intervention of communitybased resources14. there are only a limited number of outcome studies on children with FTT. It may be necessary when the safety of a child is a concern. assessment on long-term results of FTT.12 In some severe FTT cases. Nevertheless.Failure to thrive in infants and children 9 Feeding or eating behaviours Parental anxiety about a child’s FTT can be helped by reassurance. but few children were below the 3rd percentile at follow-up. Food should be used as nourishment. so it is difficult to make an Table 1. outpatient management has failed. your child decides how much to eat 4 Offer a variety of healthy and tasty foods 1. In the light of these results. the aggressive approach to the identification and management of FTT needs reassessing13.7 Useful guidance for parents.
BMJ 1972. 5 Maggioni A. 16 Gomez F. 8 Marcovitch H. although firmly entrenched in the medical lexicon. 13 Rudolf MCJ. Zeisel SH. Dunger DB.43:449–56.308:35–8. Frenk S. Logan S.10 Failure to thrive in infants and children Conclusion It is common to confuse the description of poor growth with a diagnosis. When feeding and caloric issues have been ruled out.20:73–80. Consensus in Paediatr 2004. It represents a nonspecific description of symptoms rather than a specific condition. Wright C. or the endocrinologist. other considerations should be taken into account. Kessler DB. Stein A. Drewett RF. Growth assessment and growth failure. Aus Fam Phys 2005. Eating habits and attitudes of mothers of children with nonorganic failure to thrive. IV. J Child Psychol Psychiatr 2004. Birks E. J Pediatr 1990.34:725–9. but rather the recognition that a rational. An approach to ‘failure to thrive’.4:551–61. Silverman LA. J Trop Paediatr 1956. Failure to thrive. Dubowitz H. General reading Frank DA. Many have suggested it should be abandoned. 2 Bergman P. 15 Waterlow JC. Arch Dis Child 2005. sequential approach needs to be followed. Kristiansson B. References 1 Krugman SD. The feeding relationship: problems and interventions. Nonorganic failure to thrive: an outpatient approach.18: 371–8.3:566–9. Gahagan S. What is the long-term outcome for children who fail to thrive? A systematic review. Failure to thrive: a general pediatrician’s perspective. Pediatr Clin North Am 1998.117:S181–9. Pediatr Rev 1997. Very early onset nonorganic failure to thrive in infants. Vazquez J. Failure to thrive. J Child Psychol Psychiatr 1999. adds little to our understanding of this condition and does not guide our approach.45:169–87. Callum J. Early feeding problems in an affluent society.45:169–87. 12 Drewett RF. It is not a question of referring a child who is not growing well to the feeding expert. The term ‘failure to thrive’. Pediatr Clin North Am 1998. 9 Dahl M. J Child Psychol Psychiatr 2002. 11 Zenel JA.90:925–31. Am Fam Phys 2003. 6 Kasese-Hara M.35:1187–1206. Graham J.1:1–28. Classification and definition of proteincalorie malnutrition. Energy compensation in young children who fail to thrive.2:77–83. Holmes R. Fairburn CG.70: 34–6. Baker SS. Arch Dis Child 1994. Acta Paediatr Scand 1987. Impact of growth up to two years of age. J Pediatr Gastroenterol Nutr 1995. To what extent is failure to thrive in infancy associated with poorer cognitive development? A review and meta-analysis. Curr Probl Pediatr Adolesc Health Care 2003. Mortality in second and third degree malnutrition. the gastroenterologist. . Chavez R. Cognitive and educational attainments at school age of children who failked to thrive in infancy: a population-based study.33:183–205. 4 Satter E. 10 Corbett SS. Corbett SS. BMJ 1994. Failure to thrive. Pediatr Clin North Am 1988. Jolley CD.76:881–8. Failure to thrive. Effect of community based management in failure to thrive: randomized controlled trial. Lifshitz F. Jarvis S. Drewett R. Ramos-Galvan R. 3 McCann JB. Paediatricians and other healthcare workers must come to a better understanding of the complex dynamics of feeding normal children. to allow for investigation of all the possible explanations of why a child is not growing.45:641–54. 7 Tolia V.317:571–4.68:879–84. A Stepwise approach to evaluation of undernutrition and failure to thrive. Cravioto JM. 14 Wright CM. 886. BMJ 1998.
Vomiting may result from a variety of disorders affecting paediatric patients (Table 2.1 Causes of vomiting and regurgitation A. and expulsion of stomach contents. pneumonia. The vomiting act is characterized by cycles of retching followed by forceful expulsion of gastric contents through the mouth. Table 2. it is now assumed that the central vomiting centres represent the integrated activity of the paraventricular nuclei arrayed along the central neuraxis controlling a myriad of autonomic functions1. Extragastrointestinal tract disorders • Infections: sepsis. otitis. proximal or distal to the ampulla of Vater. hydrocephalus. i. meningitis • Intracranial hypertension: subdural effusion. volvulus • Duplication • Intussusception • Soy or cow’s milk protein intolerance • Coeliac disease • Food allergy • Hirschsprung’s disease • Chronic intestinal pseudoobstruction • Appendicitis • Inflammatory bowel disease • Gastroenteritis Other abdominal organs • Hepatitis • Gallstones • Pancreatitis B. Gastrointestinal tract disorders Oesophagus • Achalasia • Gastro-oesophageal reflux (GER) • Hiatal hernia • Congenital vascular or mucosal rings • Stenosis • Foreign body Stomach • Pyloric stenosis • Diaphragmatic hernia • Peptic disease • Antral web Duodenum • Annular pancreas • Duodenitis and ulcer • Malrotation • Superior mesenteric artery syndrome Intestine and colon • Atresia and stenosis • Meconium ileus • Malrotation.e. brain tumour • Intoxications or drugs • Inborn errors of metabolism • Eating disorders • Cyclic vomiting syndrome .1). and María José Galiano Segovia. Although it was previously thought one or two anatomical vomiting centres existed in the central nervous system (CNS). urinary tract infection. History and physical examination may help us to distinguish nonbilious from bilious causes.Chapter 2 11 Vomiting José M Moreno-Villares. MD. retching. MD Introduction Vomiting is a complex behaviour composed of three linked activities: nausea.
Impedance studies measure fluid movements rather than luminal pH changes3. and so on. Assessment of the child with vomiting should start with a complete history. Symptoms/examination The most common symptom is postprandial regurgitation of effortless spit-up. Ultrasonography is now used as a diagnostic tool to confirm GER.12 Vomiting Evaluation Vomiting is a common symptom of many disease states. Oesophageal and gastric scintigraphy is sometimes helpful in identifying pulmonary aspiration. oesophagitis with haematemesis. Nevertheless. imaging of the head. false-positive and false-negative tests are common. Peptic strictures can present in cases of severe but asymptomatic oesophagitis. inborn error of metabolism. Gastro-oesophageal reflux and regurgitation This is defined as effortless expulsion of gastric contents by the mouth and can be asymptomatic or symptomatic. GERD is common in neurologically impaired children. magnesium. Viral or bacterial gastroenteritis are usually accompanied by diarrhoea and fever. serum electrolytes. when two-thirds of infants regurgitate. Pain located in the right lower quadrant suggests appendicitis. and culture. presence of blood.2). the most productive test is upper intestinal endoscopy. Further evaluation may include blood count. Severe GERD may present with failure to thrive. leukocytes. anaemia. aspiration. Nowadays. test of liver function. The presence of mucus and blood in the stool may raise the suspicion of intussusception or bacterial or toxic colitis. . chronic cough. It can be diagnosed on barium swallow by observing regurgitation of barium from stomach to oesophagus. serum ammonia. blood urea nitrogen. peptic disease. serum amylase. but evidence of oesophagitis supports the diagnosis (2. Diagnosis GER is usually diagnosed by a thorough history and physical examination in infants under 6 months of age. The highest prevalence is at 4 months.1 Reported regurgitation according to age. Emesis of gastric contents is characteristic of gastric outlet obstruction. GERD affects a much smaller proportion of infants (2. and stool examination for occult blood.3). urinary tract infection. it is a premalignant condition associated with dysplasia and adenocarcinoma. Specific indications from history and physical examination may result in obtaining other tests including abdominal ultrasonography. 70 60 % positive 50 40 30 20 10 0 0–3 >1 time/day >4 times/day Is a problem 4–6 7–9 Age (months) 10–12 2. The history and physical examination are essential starting points and should include duration of vomiting. <10% still present vomiting daily.1). or psychogenic vomiting. toxicology screen. The child who vomits bile-stained material may have an intestinal obstruction and should be investigated urgently. heartburn or chest pain. CNS masses or infection. abdominal pain. This is a metaplasia of the oesophageal squamous epithelium that transforms to specialized columnar epithelium. calcium. A pH probe (prolonged monitoring of oesophageal pH) is the best test for GERD. Endoscopy is not diagnostic. upper gastrointestinal (GI) series only serve to rule out anatomical problems. and parasites. GERD can lead to Barrett’s oesophagus. dysphagia. If there is a bloody vomitus. If not treated. urinary organic acids. The differential diagnosis of the child with vomiting varies with the age of the patient. Abdominal distension suggests intestinal obstruction. Gastro-oesophageal reflux disease (GERD) is defined as gastro-oesophageal reflux (GER) that occurs too frequently and damages the oesophageal mucosa leading to clinical symptoms. and wheezing. physical examination. GER is a physiological event that can be seen in a large number of infants: >50% of 2month-old infants regurgitate twice a day. Rumination is sometimes a symptom as well as neck contortions (Sandifer’s syndrome). otitis. Spontaneous relaxation of the lower oesophageal sphincter is the major mechanism by which GER occurs. The evaluation of bloody vomitus start with the confirmation that the material vomited is blood. urinalysis. or fever. and description of the vomitus. Midline or diffuse abdominal pain suggests pancreatitis or peritonitis. Imaging may help to rule out anatomical causes or intestinal obstruction. By 1 year. with or without regurgitation2. Apnoeic episodes in neonates and very young infants can be caused by reflux. but it will miss cases of nonacid GER (2.
3 Endoscopy is not diagnostic. H: heartburn. A B C D . M: meal. pH <4 is considered pathological. (C: chest pain. but evidence of oesophagitis supports the diagnosis. but it will miss cases of nonacid GER.) 8 7 6 5 pH 4 3 2 1 0 11 am M H M HH S M 3 pm M 7 pm M H H 11 pm S C 3 am M 7 am 11 am pH 8 7 6 5 4 3 2 1 9 am 1 pm C 5 pm 9 pm 1 am 5 am 9 am 2.2 A pH probe (prolonged monitoring of oesophageal pH) is the best test for GER. A: oesophagitis. bottom: pathological pH probe.Vomiting 13 2. C: oesophageal stenosis secondary to oesophagitis. Top: normal pH probe. D: Barrett’s oesophagus (arrows). S: supine. B: severe oesophagitis.
4 Management of a vomiting infant. . H2 receptor antagonists (e. Neurologically impaired children respond less well to medical therapy.4).14 Vomiting Treatment In 85–90% of patients. GER will disappear between 6 and 12 months with no treatment (2.1 mg/kg/dose) or domperidone (0. Regurgitation is reduced by conservative measures such as small.2) but is associated with morbidity. ranitidine.2 Indications for antireflux surgery 1 Persistent vomiting with failure to thrive 2 Severe oesophagitis or oesophageal stricture 3 Apnoeic spells or chronic pulmonary disease unresponsive to medical therapy 4 Large hiatal hernias. Antireflux surgery (Nissen fundoplication) is indicated in selected cases (Table 2. Laparoscopic surgery has been associated with increased repeat operations. Prokinetic agents such as metoclopramide (0.2 mg/kg/dose) may be used to hasten gastric emptying. if compared with open surgery5. 5.0 mg/kg/d) and proton pump inhibitors (omeprazol 1 mg/kg/d) are effective in controlling oesophagitis. frequent thickened feedings. if symptomatic Recurrent vomiting History and physical examination Are there warning signals? Yes Further evaluation No Are there signs of GERD? Yes Further evaluation No Uncomplicated infantile GER ‘Happy spitter’ • No test • Education • Consider – Thickened formula – Hypoallergenic formula Well child Yes Resolves by 18–24 months? No • Consultation paediatric GI • Review previous management • Consider: – Endoscopy – Upper GI series – Oesophageal pH probe – Acid suppression ± prokinetic 2.g. Low doses of erythromycin may also act as a promotility agent4. Table 2.
Hernias are treated surgically if medical treatment fails6. Sliding hiatal hernia is common in childhood. A B . A: barium study. It may present accompanying GER. if the oesophagus and the gastrooesophageal junction are normally placed but the gastric cardia is herniated beside the oesophagus through the oesophageal hiatus (2. • Sliding.Vomiting 15 Hiatal hernia Hiatal hernia is the protrusion of a portion of the stomach into the chest through an opening in the diaphragm (2. B C 2. A 2. in which the gastro-oesophageal junction and a portion of the proximal stomach are herniated through the oesophageal hiatus. Hiatal hernias are classified as: • Para-oesophageal. B: barium study.6 A: The oesophagus and the gastrooesophageal junction are normally placed but the gastric cardia is herniated beside the oesophagus through the oesophageal hiatus (arrows).5 Hiatal hernia.6).5). but many cause no symptoms. B: gastro-oesophageal junction placed into the thorax. C: endoscopic retroview from the stomach.
It affects 1. . enlarged pyloric muscle (dotted line). hypokalaemic metabolic alkalosis. Laparoscopic view. fretfulness. Coffee-ground emesis may be seen as a result of oesophagitis or gastritis.5–4. 2.7).8 Ultrasound images in infantile hypertrophic pyloric stenosis. Pyloric muscle length >14 mm and thickness >3–4 mm are considered to be pyloric stenosis. There is a positive family history in 13%.0 per 1. It shows a hypoechoic ring with a hyperdense centre. Ultrasound is the gold standard investigation and can reveal a thick pyloric muscle with a long pyloric channel and large pyloric diameter7. Infants do not generally appear ill unless undiagnosed for an extended period of time: constipation. The pylorus may be palpable as a small.9). prominent gastric peristaltic waves may be seen after feeding. Diagnosis Laboratory tests demonstrate hypochloraemic. and thickness of circular muscle >4 mm in pyloric stenosis (2. hard mass or as an ‘olive’ in the right upper abdomen. Prior to surgery.000 live births. The underlying mechanism is not understood. Haemoconcentration is reflected by elevated haemoglobin and haematocrit values. dehydration. A: Longitudinal view of the pylorus showing oval-shaped.10). Treatment and prognosis Pyloromyotomy is the treatment of choice and consists of incision down to the mucosa along the pyloric length (Ramstedt procedure) (2.7 Infantile hypertrophic pyloric stenosis is a condition resulting from hypertrophy of the pylorus muscle in which the lumen becomes obstructed by mucosa. and finally apathy can occur. it is imperative to A B 2. Symptoms/examination Vomiting usually begins between 2 and 4 weeks of age and rapidly becomes projectile after every feeding. B: Sagittal view of the pyloric olive. The infant is hungry and nurses avidly. Laparoscopic pyloromyotomy is gaining acceptance9.8)8. The vomitus is rarely bilious. A barium upper GI study reveals delay in gastric emptying and an elongated narrowed pyloric channel with a double tract of barium (2. and is more common in males (4:1).16 Vomiting Infantile hypertrophic pyloric stenosis Infantile hypertrophic pyloric stenosis is a condition resulting from hypertrophy of the pylorus muscle in which the lumen becomes obstructed by mucosa (2. On examination. weight loss.
Vomiting 17 repair dehydration and electrolyte disturbances. scoliosis. They may end spontaneously. such as realigning the duodenum or performing a duodenojejunostomy. . the normal physical examination. The episodes are of rapid onset. lasting from several weeks to more than 1 year. it is necessary to perform surgery. B 2. confinement to bed. some authors consider cyclic vomiting as abdominal migraine. or may progress to severe dehydration and electrolyte imbalance. Diagnostic evaluations should be focused on conditions suggested by the history. often starting during sleep or early morning. Symptomatic treatment should be started as early as possible after the onset of symptoms11. It may persist for hours and days. As the clinical picture mimics migraine attack and headaches may be present in up to 50% of patients. may cease after a period of sleep. With improved nutrition symptoms usually resolve. A 2.11). Occasionally.9 Barium upper GI study. spinal surgery.10 A: Surgical view of hypertrophic pyloric stenosis. Mortality rates are low and usually associated with perforation or infection. It may present with unspecific symptoms such as anorexia. B: pyloromyotomy. The outlook is excellent following surgery. Superior mesenteric artery syndrome This syndrome is an unusual cause of recurrent vomiting. The pattern of inciting events and the characteristics of the attack are usually similar in each individual. Sometimes vomiting may persist postoperatively for a few days if there is a long preoperative history. and bilious vomiting. Upper GI series show a partial obstruction in the third part Cyclic vomiting syndrome The disorder is characterized by recurrent episodes of nausea and vomiting without an identifiable organic cause. Rapid linear growth without weight gain. nausea. weight loss. Narrowing of the pyloric channel with a double tract of barium (‘string sign’) (arrows). The third part of the duodenum is obstructed as it passes between the superior mesenteric artery anteriorly and the vertebral column posteriorly (2. and a meticulous evaluation of other organic disease causing recurrent episodes of vomiting. 12. The diagnosis is based on the history. and use of a body cast may predispose to the condition10. Treatment consists of decompression by a nasogastric tube and intravenous fluids. The episodes are separated by completely symptom-free intervals. of the duodenum. Diagnosis is based on history and plain abdominal X-ray that shows a dilated stomach and proximal duodenum.
Treatment of cyclic vomiting syndrome.10:273–82. Can J Physiol Pharmacol 1990. 11 Chow S. Gastro-oesophageal reflux in infants. B: upper gastrointestinal tract series shows dilatation of the second portion of the duodenum. Mac Kinley GA. Curr Treat Options Gastroenterol 2007. 2 Kumar Y. Curr Gastroenterol Rep 2008.53:467–9.90:1047–52. Gastro-oesophageal reflux in children. Choice of incision: the experience and evolution of surgical management of infantile hypertrophic pyloric stenosis. Hiatal hernia. Sarvananthan R.68:254–9. Hauser B. Radiology 2003.227:319–31. 10 Lock G. Hepatology. 3 Vandenplas Y. Arch Dis Child 2005.47(3):379–93. Orden KW. Can Fam Phys 2007. 8 Hernanz-Schulman M. The improved ultrasound diagnosis of pyloric stenosis. and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome. Treating children’s cyclic vomiting. with dilatation of the second portion of the duodenum. Gastro-oesophageal reflux disease: oesophageal impedance versus pH monitoring. Infantile hypertrophic pyloric stenosis. Pediatr Radiol 1986. LeQuense GW. Devrecker T. Further reading Hassall E. J Laparoendosc Adv Surg Tech A 2007. . newer options.18 Vomiting 50° A 16° B 2.16:200–5. Lefevre F. 12 Chepyala P. Clin Evid 2005. Golldman RD. 9 Aldrigde RD. C: CT scan shows narrowing between the superior mesenteric artery (arrowhead) and aorta (arrow). Arch Dis Child Educ Pract Ed 2007.10(3):324–31. Update of drugs for gastro-oesophageal reflux disease. J Pediatr Gastroenterol Nutr 2008. Scholmerich J. A: Compression of the third portion of the duodenum between the aorta and superior mesenteric artery.42:234–9. Non-occlusive mesenteric ischemia. Aldridge RB. et al. Outcomes of fundoplication: causes of concern. children and adults. Svoboda RP. 7 Stunden RJ.92:ep 114–8.11 Superior mesenteric artery syndrome.14:349–55. Li BU. Step-up and step-down approaches to treatment of gastroesophageal reflux disease in children. 6 Gottrand F. The origin of the vomiting response: a neuroanatomical hypothesis.96:956–62. 4 Keady S. 5 Hassal E. Rev Pract 2007.57:95–8. Little KET. Salvatore S. Chelimsky GG. Acta Paediatr 2007.17:131–6. North American Society for Pediatric Gastroenterology. Hepatogastroenterology 1995. C References 1 Lawes IN.
. GA. The major parasitic infections are Giardia and Cryptosporidium2. Viruses are transmitted fundamentally by the faecal–oral route. Yersinia and Escherichia coli. Atlanta. astrovirus and Viral gastroenteritis is the second most common disease in developed countries. USA).1 A: Electron microscopy of rotavirus particles from an infant with acute diarrhoea (courtesy Centers for Disease Prevention and Control. MD Definition Diarrhoea is a change in the individual bowel habit resulting in more frequent and/or looser stools.1). with some common features (Table 3. 2. B). enteric adenovirus (types 40 and 41). gastrointestinal infection is the most common cause of acute diarrhoea worldwide1.2)3. In childhood.. It expresses an acute gastrointestinal inflammation (acute gastroenteritis). and Salmonella spp. B: schematic of the complete rotavirus particle with structural proteins in the different shells. Aetiology Epidemiology In industrialized countries the most clinically significant agents in infant acute diarrhoea are viruses (Table 3. The sporadic form affects all children in the first 5 years of life.Chapter 3 19 Diarrhoea ACUTE DIARRHOEA Enriqueta Román Riechmann. Other viruses involved are human calicivirus (norovirus and sapovirus. formerly known as Norwalk and Sapporo virus). mainly group A rotavirus (3. followed by Shigella. Most common bacteria are Campylobacter spp.1A. There is faecal Outer capsid: VP 4 Outer capsid:VP 7 Middle capsid: VP 6 Segmented genome A B 3.
coli – Enterotoxigenic E. coli – Diffusely adherent E. enteritidis S. (Courtesy Faculty of Biological Sciences. typhimurium • Shigella – Shigella sonnei • Campylobacter – C. outbreaks • Faecal–oral transmission Viruses • Group A rotavirus • Enteric adenovirus • Astrovirus • Human calicivirus – Norovirus – Sapovirus Parasites Giardia lamblia Cryptosporidium parvum Bacteria • Salmonella – S. leading to their destruction and villi atrophy. causing cell lysis and producing a decrease in disaccharidase activity and in mechanisms for active sodium and water absorption. coli • Aeromonas Pathophysiology Diarrhoea occurs when the volume of water and electrolytes present in the colon exceeds its capacity for absorption. coli – Enteroaggregative E. jejuni • Yersinia – Y. Bacteria can activate one of the intracellular pathways leading to intestinal secretion through enterotoxins. coli – Enterohaemorrhagic E. This can be mainly due to an increase in the secretion and/or a decrease in the absorption level of the small intestine. Barcelona. Spain.2 Pathogenesis of viral diarrhoea: rotavirus infects selectively mature enterocytes on the tips of small intestine villi.20 Diarrhoea Table 3. Viruses causing diarrhoea infect selectively mature enterocytes.) A B .2).1 Main agents of infectious acute diarrhoea Table 3. typhi and paratyphi – Nontyphoidal Salmonella S. University of Barcelona. In bacterial enteric infection transmission can be through contaminated water or foodstuffs. Rotavirus is a seasonal infection and in temperate climates infections peak during the winter months3.2 Main features of viral agents • RNA viruses (except adenovirus) • Nonlipoproteic envelope • Seasonal distribution • Asymptomatic infection ⇔ severe disease • Frequent coinfections • Endemic. Decreased intestinal absorption occurs as a result of intestinal damage or inflammation (3. 3. coli – Enteroinvasive E. Diarrhoea caused by bacterial infection is most frequently secretory. enterocolítica • Escherichia coli – Enteropathogenic E. sporadic cases/epidemic. The consequence is a malabsorptive or osmotic diarrhoea. excretion of viral particles in the days prior to clinical symptoms and continuing through to its resolution.
The severity of dehydration is assessed in terms of weight loss as a percentage of total body weight. unable to drink Recoil in >2 seconds Sunken Tachycardia. not thirsty Instant recoil Normal Normal Normal Normal capillary refill Slightly decreased Mild to moderate dehydration 3–9% Restless. a complete clinical history and a careful physical examination is all that is necessary4–6.3). and the faeces do not contain mucus. faeces are watery and profuse. 7 Symptom Body weight loss General condition Eyes Tears Mouth and tongue Thirst Skin fold Fontanelle Heart rate Quality of pulses Extremities Urine output Minimal or no dehydration <3% Well.3 Clinical features suggestive of bacterial diarrhoea • Children older than 3 years • Acute onset • No vomiting • Hyperthermia • Bloody diarrhoea • Increase in CRP • Faecal white cells Table 3.6). surgical abdomen. urea/creatinine. or white cells. and electrolyte imbalance. acidosis. although some characteristics may suggest bacterial diarrhoea (Table 3. and haemolityc–uraemic syndrome7. Diarrhoea can lead to dehydration. eager to drink Recoil in <2 seconds Sunken Normal to increased Normal or slightly decreased Delayed capillary refill <1 ml/kg/h Severe dehydration >9% Lethargic or unconscious: floppy Deeply sunken Absent Very dry Drinks poorly. bicarbonate) (Table 3. irritable Slightly sunken Absent Dry Thirsty. Tests for specific pathogens Table 3. Supplementary laboratory studies are usually unnecessary.4 Assessment of dehydration degree (adapted from ESPGHAN 2001and CDC report 2003)6.4. An assessment of dehydration degree can be made by diverse scales of clinical signs and symptoms (Table 3. The most common age is 6–24 months and rotavirus infection is associated with a more severe disease3. Viral diarrhoea is typically acute in onset.3). bradycardia in most severe cases Moderately decreased Cool. alert Normal Present Moist Drinks normally. These should rule out any life-threatening cause such as intussusception. Assessment In most cases. viral gastroenteritis cannot be distinguished from that caused by bacteria through clinical history or physical examination.Diarrhoea 21 Clinical features Acute diarrhoea is a self-limiting process. Vomiting appears at the beginning of the process. Nevertheless. as aetiology is irrelevant for clinical management. blood. mottled <1 ml/kg/h .5) and on which patients should have faecal laboratory study (Table 3. 3. There are some recommendations on which patients should have blood tests (serum electrolytes. In the secretory and osmotic diarrhoeas. The invasive diarrhoea is frequently characterized by mucus and macroscopic blood. watery-like.
Hepatology. or immunochromatography. and the European Society of Pediatric Gastroenterology. 8 include stool cultures for bacteria and detection of faecal viral antigen by enzyme immunoassay (EIA).7). followed by maintenance in which rapid realimentation and maintenance fluids are indicated. the American Academy of Pediatrics (AAP). rehydration with quick replacement of fluid deficit. Treatment includes two phases. The main objective is to treat the dehydration and to lead to nutritional recovery.4). • Immunocompromised • Blood in the stool • Uncertain diagnosis • Severe or prolonged diarrhoea • Hospitalization • Recent travel abroad .3 Signs of dehydration.5 Recommendations on blood tests (adapted from AAP 1996)5.22 Diarrhoea Sunken fontanelle Crying and irritablility Intestinal lumen Intestinal villous cell Sunken eyes Substrate Na+ Substrate D-hexoses D-glucose D-galactose L-amino acids H2O Substrate Na+ H2O + Na+ Dry mouth Decreased skin turgor 3. ORT is recommended globally for the management of acute diarrhoea2. Oral rehydration solution (ORS) is more physiological. Intravenous fluids should be reserved for patients with severe dehydration. 6–8. The World Health Organization (WHO).6 Recommendations for faecal laboratory study The molecular process for cotransport of glucose and sodium was the basis for oral rehydration therapy (ORT) development (3. cost-effective and has fewer adverse effects that intravenous therapy. Table 3.4 Diagram to show the processes involved in cotransport of organic solutes and sodium and secondary water absorption. and Nutrition (ESPGHAN) recommend the use of ORT in the treatment of gastroenteritis with mild to moderate dehydration (Table 3. 3. • Severe dehydration • Moderate dehydration where clinical signs might indicate hypernatraemia • Moderate dehydrated patients whose histories or physical findings are inconsistent with straightforward diarrhoeal episodes • History of excessive hypertonic or hypotonic fluid ingestion Treatment There is no specific treatment for acute gastroenteritis. agglutination with latex particles. Rehydration Table 3.
such as inhibitors of intestinal motility (loperamide and other opiates and anticholinergics). not effective in bacterial invasive diarrhoea. mainly by rotavirus in infants and young children11. This . Probiotics The addition of probiotics to milk or infant formulas or to the rehydration solutions have shown a shortening in the duration of the diarrhoea. Citrate Table 3. effective in a dose >1010 CFUs and when it is administered early in the disease to children in developed countries. except for avoiding foods rich in simple sugars. sports drinks. modifiers of the intestinal secretion (bismuth salts). • Resumption of full normal diet in older children. Studies performed in developing countries have shown its effectiveness in the treatment of acute and persistent diarrhoea in children younger than 5 years9. Drugs Antidiarrhoeal drugs.5). A moderate clinical benefit of some probiotics has been shown in the treatment of acute watery diarrhoea. has led the WHO and UNICEF to recommend treatment with zinc in all children with diarrhoea in developing countries10. due to its osmotic load. Micronutrients Zinc has been the main micronutrient implied in the diarrhoeal process. This effect seems to be: moderate in reducing diarrhoea by 17–30 hours. are not used in childhood as they have their effectiveness has not been demonstrated and/or they have important adverse effects. The schedule of ORT should be to give small aliquots frequently (3. reduce illness duration. aluminum salts). • In formula-fed infants continuation of a nondiluted formula. and improve nutritional recovery. without restriction of lactose intake. Feeding Early feeding may decrease the intestinal permeability changes induced by infection. strain dependent with Lactobacillus GG most effective. or fruit juices. The recommendations after the period of rehydration are: • Continuation of breastfeeding in all cases.8). These solutions should not be replaced by any other drinks such as clear fluids like water alone or homemade solutions.8 Contraindications for oral rehydration therapy • Severe dehydration – Shock – Diminished consciousness • Persistent vomiting • High ongoing faecal losses (>10 ml/kg/h) • Potential surgical pathology • ORT previous failure • Significant psychosocial situation A single hypo-osmolar ORS would be used for all diarrhoeal episodes (cholera and noncholera). colas. There are a few situations in which ORT is contraindicated (Table 3.7 Oral rehydration solution composition Sodium (mmol/l) WHO (1975) ESPGHAN (1992) WHO (2002) Bic Potassium (mmol/l) 20 20 20 Chloride (mmol/l) 80 60 65 Base (mmol/l) 30Bic 10Cit 10Cit Glucose (mmol/l) 110 74–111 75 Osmolarity (mOsm/l) 310 200–250 245 90 60 75 Cit Bicarbonate. and adsorbent substances (cholesteramine.Diarrhoea 23 Table 3.
9). Both are of oral administration in two (monovalent human. Effectiveness and good oral tolerance of racecadotrile (an antihypersecretor with no effect on intestinal motility) has recently been described. These vaccines can be administered with other regular childhood vaccines. Rotarix®) or three doses (pentavalent bovine–human.24 Diarrhoea Acute diarrhoea/gastroenteritis Other causes of diarrhoea and/or vomiting excluded Dehydration assessment No dehydration Mild to moderate Severe Risk factors? Infants <6 months High frequency of watery stools or vomits ORS (30–80 ml/kg) over 4 hours and reassessment IV rehydration No Yes Rehydrated? Observation at least 24 hours Discharge Yes No Consider nasogastric tube or IV rehydration Normal feeds + maintenance fluids (ORS 10 ml/kg/watery stool) 3.5. At present there are already two safe and effective vaccines against severe disease by the most prevalent serotypes of rotavirus in human pathology. Table 3. Rotateq®). by Yersinia in cases of serious disease. with appropriate hand cleaning and cleaning of the objects used in the manipulation of children with diarrhoea. Prevention Since the main infectious route is faecal–oral. • All cases of acute diarrhoea by Shigella. . The use of antibiotics would only be justified in: • Immunocompromised patients. by Salmonella in infants with bacteraemia. although ondansetron can sometimes be effective in diminishing vomiting and the necessity for hospitalization.5 Management of acute diarrhoea. fundamental to prevention is to reinforce environmental hygiene. • Some cases of infection by Campylobacter. followed by a fast reintroduction of usual feeding plus ORS for maintained losses (3. Antiemetic drugs are unnecessary in the treatment of acute diarrhoea. and the majority of those produced by enteroinvasive and enteropathogenic E. In summary. coli and by Clostridium difficile. Vibrio cholerae. the management of acute diarrhoea in children younger than 5 years should be: oral rehydration for 3–4 hours. and in all patients younger than 3 months.
• Inflammatory: enterocyte injury with inflammatory response: humoral. • Other organs affected. • Motility alterations: – Hypermotility: unspecific chronic diarrhoea. nondigested substances. and with permeability alteration and decrease in disacaridases and transporters. abdominal distension. skin. • Digestion disorders (decreased enzymes.10. MD. respiratory system. presence of abdominal masses. abdominal pain. including: • Nutritional repercussion. pulling water along the intestinal lumen. MD. steatorrhoea. • Associated symptoms: fever. tenderness. Different mechanisms can be involved in chronic diarrhoea and usually a combination of more than one are responsible for this alteration13: • Osmotic diarrhoea: nonabsorbed substances in the distal bowel increases osmotic charge. Aetiology A wide variety of disorders including organ dysfunction. parasites.11). • Age of onset: according to the age of presentation. vomiting. and phagocytic. cellular. visceromegaly. – Infectious: bacteria. Some clinical signs and symptoms are relevant for a diagnostic approach14.9 Practical guidelines for the management of gastroenteritis in children. autoimmune diseases.Diarrhoea 25 CHRONIC DIARRHOEA Angeles Calzado Agrasot. and Carmen Ribes-Koninckx. – Hypomotility: intestinal bacterial overgrowth. MD. • Secretory diarrhoea: increased secretion of water and electrolytes into the intestinal lumen. PhD Definition and pathophysiology Chronic diarrhoea is defined as a decrease of consistency or increase in frequency or volume of stools lasting longer than 2 weeks12. certain disorders are more likely to occur (Table 3. – Chronic inflammatory bowel disease (IBD) (Crohn’s disease and ulcerative colitis). deconjugated bile salts). • Physical examination: failure to thrive. and congenital alterations14 can account for chronic diarrhoea in infancy as shown in Table 3. • Stool characteristics: blood. ‘Six pillars of good practice’ (ESPGHAN 2001)6 l Use of oral rehydration solution (ORS) to correct estimated dehydration in 3–4 hours (fast rehydration) ll Use of hypo-osmolar solution (60 mmol/l sodium. surpassing the absorption capability. mucous. anorexia. 74–111 mmol/l glucose) lll Continuation of breast-feeding throughout lV Early refeeding: resumption of normal diet (without restriction of lactose intake) after 4 hours rehydration V Prevention of further dehydration by supplementing maintenance fluids with ORS (10 ml/kg/watery stool) Vl No unnecessary medication . Begoña Polo Miquel. Diagnosis A complete clinical history is mandatory. Table 3. e.g.
10 Aetiology of chronic diarrhoea Pancreatic insufficiency • Cystic fibrosis • Schwachman syndrome Hepatobiliary dysfunction • Deconjugated bile salts due to bacterial overgrowth • Biliary atresia • Cholestasis Congenital alterations in electrolyte transport • Congenital chlorated diarrhoea Carbohydrate intolerance • Congenital alactasia • Secondary lactose intolerance • Primary congenital racial intolerance • Glucose – galactose malabsorption Changes in mucosa • Coeliac disease • Cow´s milk intolerance • Soy intolerance • Other food protein intolerance • Congenital microvilli atrophy • Autoimmune enteropathy Motility disorders • Toddler´s diarrhoea • Hyperthyroidism • Idiopathic bowel pseudo-obstruction • Irritable bowel syndrome Infectious • Prolonged viral enteritis • Salmonella • Campylobacter • Yersinia • Giardia lamblia • Cryptosporidium • Bowel bacterial overgrowth • Pseudomembranous colitis Anatomical or surgical disorder • Necrotizing enterocolitis • Short bowel syndrome • Blind loop syndrome • Hirschprung’s disease • Intestinal lymphangiectasia Inflammatory • Crohn’s disease • Ulcerative colitis Other causes • Abetalipoproteinaemia • Anderson disease • Enteropathic acrodermatitis • Immunodeficiency (congenital or acquired – HIV) • Postenteritis diarrhoea • Protein-losing enteropathy • Bile acid malabsorption Table 3.11 Aetiology according to the age at presentation <1 year Lactose intolerance Postenteritis diarrhoea Food intolerance Cystic fibrosis Dietetic mistakes 1–3 years Unspecific chronic diarrhoea Giardia lamblia Coeliac disease Infectious diarrhoea Postenteritis diarrhoea >3 years Giardia lamblia Coeliac disease Inflammatory bowel disease Lactose intolerance .26 Diarrhoea Table 3.
thyroid and islet cell serum antibodies: autoimmune enteropathy. or if IBD is suspected. prick test.6). biochemistry (including proteins. albumin). albumin Protein-losing enteropathy Osmolarity • >280 mOsm/l – osmotic diarrhoea • <280 mOsm/l – secretory diarrhoea Coeliac autoantibodies (IgA antigliadin.6 Characteristics of stools may help to diagnose chronic diarrhoea.5 Reducing substances • Carbohydrate malabsorption (glucose-galactose malabsorption) Total proteins. in infectious diarrhoea. 3. – Pancreatic enzymes in duodenal fluid. An abdominal ultrasound may be useful in anatomical or surgical disorders. specific tissue transglutaminase antibodies) Coeliac disease Stool culture • Infectious diarrhoea IgE. • Enterocyte. mono/disaccharides tolerance test: carbohydrate malabsorption or bacterial overgrowth. When IBD is suspected an upper endoscopy or a colonoscopy should be performed and multiple biopsies taken. . • Blood studies (3.7 Biochemical analysis of blood that may help to diagnose the aetiology of chronic diarrhoea. C-reactive protein level. iron metabolism.7). immunoglobulin levels Nutritional status pH <5. smooth muscle. protein electrophoresis Occult blood • IBD • Infectious diarrhoea • Protein sensitivity syndrome IBD 3. Presence of fat • Quantitative: different methods can be used such as Van de Kamer. immunoreactive trypsin. vitamin levels. food antigen RAST Elimination and provocation tests Food allergy/food intolerance Fresh view Parasites Erythrocyte sedimentation rate. steatocrit • Qualitative: Sudan • Fat malabsorption • Pancreatic insufficiency Proteins • Alpha-1-antitrypsin clearance • Quimiotrypsine • Calprotectine • Elastase • Protein-losing enteropathy • Pancreatic insufficiency • IBD Haematology.Diarrhoea 27 Laboratory studies • Stool analysis: faecal characteristics or faecal losses can point to specific syndromes (3. sweat chloride test: pancreatic insufficiency. alpha-1glycoprotein. mucous or blood Imaging procedures Plain abdominal radiography may rule out anatomical disorders or surgical causes. • Other studies: – Exhaled hydrogen concentration test. The use of a barium upper gastrointestinal (GI) study or a barium enema helps in the diagnosis of anatomical or surgical disorders. Macroscopic stool aspect: consistence.
Wireless EC shows great potential for the study of other A Video section Thumbnail section Comment Timebar Video controls B 3. Similar to a large antibiotic capsule. 7. 2. The recent development of the wireless B endoscopic capsule (A) has allowed the possibility of reaching these blind areas of the small bowel. 5.9. or sent by email. 6. After the stored images are processed by a special software (RAPID™ [Reporting And Processing of Images and Data] Application Software). clear optical dome. The wireless endoscopic capsule The small bowel is an area of the intestine not accessible to routine endoscopic techniques. Video images are transmitted (two images per second) from inside the body during 6–8 hours. these can be stored as a high quality video. CMOS imager. antenna. the recent development of the wireless endoscopic capsule (EC) (3.10). the capsule C is propelled by peristalsis. (Courtesy of Given Imaging Ltd.28 Diarrhoea 3. Similar to a large antibiotic capsule. illuminating LEDs. (Courtesy of Given Imaging Ltd. C). the video-capsule is propelled by peristalsis and will transmit video images.7 g.9 Schematic diagram of a video-capsule: 1.) 3 1 2 3 4 5 5 6 7 3. to a sensor array secured to the patient’s abdomen (B. B: main screen). Individual frames and short videos can be also filed. Advances in miniaturization of electronic components have allowed the development of a new type of capsule endoscope (3. digital data allow integration into reports which can be stored.10 Video-capsule processor (A: workstation. ASIC transmitter.8 The small bowel is an area of the intestine not A accessible to routine endoscopic techniques.) . enabling endoscopy of the whole GI tract15 with low invasivity. from inside the body over 6–8 hours to a sensor array fixed to the patient’s abdomen and to a recorder. follow-up. after being swallowed by the patient. lens. 3. 3. after being swallowed by the patient. 3.8) has revolutionized endoscopy15. This device is therefore very useful for the diagnosis of occult digestive bleeding and for the diagnosis. This is then connected to the recorder which stores the data. 2 images per second. printed. Weight. battery. However. moreover. 4. and extension study of IBD16–18.
may be patchy or present in distal jejunum making diagnosis extremely challenging by conventional methods (3.11)19. tumours. characteristic of coeliac disease.11 Characteristic Crohn’s disease ulcers obtained by a wireless endoscopic capsule. In chronic diarrhoea. A: villi are clearly visible in normal jejunum. i.12 Patchy lesions in a young patient with coeliac disease obtained by a wireless endoscopic capsule. B: absence of villi in a patient with coeliac disease.12). Small villous atrophy. B A disorders such as intestinal polyps.Diarrhoea 29 Table 3. for instance Crohn’s disease restricted to areas of the small intestine not accessible by conventional endoscopy (3. A 3.e. A: jejunum.12). Its optimal use in paediatric patients has not yet been established.12 Advantages and drawbacks of the wireless EC system Advantages • Noninvasive • High-quality images of the entire small bowel • Ambulatory examination • Imaging is possible even in the very frail patient Disadvantage • Patient refusal or impossibility to swallow the capsule – the capsule can be introduced into the stomach with a gastroscope • The capsule is retained in the stomach. B: distal ileum. this procedure may be useful to rule B out a specific disorder or when other methods have failed to confirm a diagnosis. graft versus host disease. The only actual complication of the procedure is related to the presence of strictures that may cause the capsule to be retained. necessitating removal by interventional or surgical procedures. and so on (Table 3. Although video-capsule endoscopy is not . no images of the small bowel are registered • Small bowel strictures can contraindicate the procedure 3.
Depositions do not occur nightly. but the efficacy of these treatments has not been established and an individual approach has to be considered (3. It usually occurs after an acute beginning (infections. with an incomplete evacuation feeling. Treatment consists of reassuring parents and giving some dietary advice: some patients may improve if they eliminate or restrict particular constituents of food such as lactose. In IBS with constipation. fibre intake can improve symptoms. new capsule for large bowel. • The onset of pain starts with a change in the characteristics of the stools. Dietetic restrictions are applicable only if there is an improvement following removal of the foodstuffs. increased fruit juice intake. low-grade chronic intestinal inflammation. stool evacuation with effort or urgency. Different approaches can be used. • The onset of pain starts with a change in the frequency of the stools. Intestinal motility alteration Anticholinergics Irritable bowel syndrome (IBS) According to Roma III21 IBS is recurrent abdominal pain or discomfort for at least 3 days/month in the last 3 months. Persistent villous atrophy can be demonstrated in consecutive biopsies and is resistant to the usual therapies (3. It usually disappears at 2–4 years old. and even genetic polymorphisms (interleukin-10) have all been implicated. deregulation of the central nervous system and digestive tract interaction. sorbitol. . with more or less mucous and undigested food particles. associated with two or more of the following criteria: • It improves with defecation. Toddler’s diarrhoea Toddler’s diarrhoea usually occurs between 6 months and 3 years of age. fructose. visceral hypersensitivity. stress. bacterial Visceral hypersensitivity 5-HT4 agonists Antidepressants Deregulation central nervous system and digestive tract interaction 5HT agonists Low grade chronic intestinal inflammation Probiotics Bacterial overgrowth Antibiotics Probiotics Diet 3. mucous stools. The main symptoms are 3–6 depositions/day. The physiopathology is not clear although it has been suggested that accelerated intestinal motility or an increase in bile salt elimination are responsible. Pharmacological treatment depends on the putative physiopathologic mechanisms. or fruits16. There is no pain or abdominal distention and it does not affect weight or height. flatulent vegetables. pasty. antibiotic treatment). and is the most frequent cause of chronic diarrhoea in this age group. Intractable diarrhoea of infancy (IDI) IDI is a severe life-threatening diarrhoea within the first 24 months of life. or watery.14).13 The pharmacological treatment of irritable bowel syndrome should be individually tailored to the most likely physiopathological cause. such as a smaller size. requiring parenteral nutrition. and evolves to recovery spontaneously. further technological improvements. Usual symptoms are: deposition frequency range from fewer than three depositions in a week to more than three depositions a day. stools can be hard. and nightly depositions. overgrowth. abdominal distension impression.13)22. or increased water intake. There is no clear physiopathology: intestinal motility alteration. will surely widen the indications for this procedure.30 Diarrhoea currently a first step diagnostic procedure in chronic diarrhoea. and the possibility of taking biopsies. Sometimes toddler’s diarrhoea has been related to dietary mistakes: low fat and high carbohydrate diet. not formed. Symptoms are intermittent and self-limited20.
aetiological treatment is indicated. It most commonly present in infants younger than 2 years. The diagnosis can be established by duodenojejunal culture (≥106 UFC/ml) or exhaled hydrogen concentration with an oral carbohydrate load. Enteropathy alters secretory and absorption function and intestinal motility. anorexia. Increased osmolarity results in osmotic diarrhoea. Bacterial overgrowth syndrome Bacterial overgrowth syndrome is due to malabsorption resulting from poor enterocyte function and bacterial transformation of nutrients into nonabsorbable and toxic metabolites23. the mucosa is damaged. nutritional status. there is an alteration of the intraluminal metabolism of carbohydrates. causing deconjugation of the bile acids. These stimulate the colon to secrete fluid (secretory diarrhoea) and inhibit the carbohydrate transporters and reduce intraluminal pH levels. Alteration of intraluminal metabolism of bile acids occurs. The term ‘food intolerance’ is usually preferred to food allergy. hypocaloric diet and excessive carbohydrate intake). If there is a concomitant infectious cause of diarrhoea.14 Intractable diarrhoea of infancy. Symptoms depend on the degree of mucosal damage. Treatment consists of nonintestinal absorbable antibiotics. The treatment consists of transient elimination of cow’s milk and lactose from the diet. There are conditioning factors such as genetics. and inadequate management of acute diarrhoea (indiscriminate use of antibiotics. It may be associated with anatomical damage. and failure to thrive. abnormal small bowel motility. medical conditions. and immunological alterations. Clinically. from abdominal pain or flatulence to severe diarrhoea with malabsorption. the aetiology of infectious acute diarrhoea. Transient food intolerance/allergy Transitory food allergy or intolerance is an adverse reaction to foods. It usually appears in infants and toddlers (6 months–3 years).Diarrhoea 31 Mucous stools Neonatal Choanal atresia Keratitis Microvillous inclusion disease Epithelial dysplasia 1–3 months Small for gestational age Facial dysmorphy Abnormal hair Syndromatic diarrhoea (tufting) Extradigestive disease Autoimmune. Carbohydrates are fermented into smaller osmotically active molecules and organic acids by bacteria. in order to include pathological reactions . Postenteritis syndrome This presents as a protracted course of acute diarrhoea or early relapse after improvement. Most usual causes and diagnostic entities according to age of presentation. When diarrhoea is prolonged. If bacterial overgrowth is present. autoantibodies 3–12 months Occasionally bloody stool Autoimmune enteropathy Cow’s milk allergy and other immune-mediated disorders 3. it presents as watery stools with or without vomit.
Sánchez-Fauquier A. Symptoms can be gastrointestinal (chronic diarrhoea. malnutrition. site of food antigen exposure. sensitization from other sources becomes more frequent. Subcommittee on Acute Gastroenteritis. 3 Wilhelmi I. and stool analysis (eosinophils. blood). perianal area erythema. With increased consumption. such as gastric biopsy.35:S143–50. and atopic tendency are risk factors for increased intestinal permeability to food antigens. Provisional Committee on Quality Improvement. J Pediatr Gastroenterol Nutr 2001. From school age on. Food-induced intolerance is most often a temporary disease.32 Diarrhoea mediated by nonimmune mechanisms24.97:424–33. Management of infectious diarrhoea. Diagnosis is established by elimination and challenge tests. 5 Sandhu BK. and failure to thrive (3. Practice parameter: the management of acute gastroenteritis in young children. small bowel biopsy. Immunological tests include: • Skin prick test with the defined antigens. gastroenterological tests are available. The definitive treatment of food allergy is strict elimination of the offending food from the diet. failure to thrive). Pediatrics 1996.33:S36–9. Farthing MJG. A challenge should be performed with the suspected agent and with placebo. Viruses causing gastroenteritis. Several different medical conditions can produce this clinical picture. Treatment consists of the elimination of all or specific dietary carbohydrates until the diarrhoea resolves.9:247–62. • Total serum IgE.15)25. In addition. and degree of the enteropathy. The test is positive for food intolerance when symptoms decline following dietary elimination of the suspected offending food and recur after a food challenge. for the European Society of Pediatric Gastroenterology. Bass D. Soy protein is another common food antigen. 2 Davidson G. Carbohydrate malabsorption Carbohydrate malabsorption usually presents as watery and acid stools.15 Carbohydrate intolerance is a common cause of chronic diarrhoea in infancy. Congenital: • Amylase deficiency: cystic fibrosis and Schwachman–Diamond syndrome • Congenital lactase deficiency • Glucose-galactose malabsorption • Sucrose-isomaltase deficiency • Adult-type hypolactasia – Most common entity – From banal symptoms to established diarrhoea – Onset age: 5–7 years – Fluctuating prevalence: from 1–3% in North of Europe to 60% in southeast Africa Acquired: • Lactose intolerance (secondary to a damage of the mucose that causes mucose atrophy such as viral enteritis and coeliac disease) 3. . et al. Oral tolerance does not develop and different immunological and inflammatory mechanisms occur with epithelial damage (enteropathy). In congenital disease. 4 AAP. respiratory. It is known that gastrointestinal infections. abdominal distension and flatulence.53:296–305. Hepatology and Nutrition. carbohydrates never will be introduced. Román E. Cow’s milk proteins are most frequently implicated as a cause of food intolerance during infancy. Infectious diarrhoea in children: Working Group Report of the First World Congress of Pediatric Gastroenterology. Clinical symptoms depend on different factors: age. • RAST: IgE class antibodies against specific food antigens. Hepatology and Nutrition Working Group on Acute Diarrhoea. • IgG class antibodies against specific food antigens: interpretation of results will be done according clinical symptoms. or dermatological. decreased serum and secretory IgA. References 1 Casburn-Jones AC. Gut 2004. different pathogenetic mechanisms. Practical guidelines for the management of gastroenteritis in children. Clin Microbiol Infect 2003. Most children can resume consumption of the offending antigen after 1–4 years of an elimination diet. egg protein becomes more important. Barnes G. J Pediatr Gastroenterol Nutr 2002.
16 Seidman EG. Hepatology.7. Gut 1983. 11 Szajewska H. 14 Lee WS. Centers for Disease Control and Prevention. European Society for Paediatric Gastroenterology. McNeish AS.52(RR-16):1–16. et al. Further reading Kligler B. Gastrointestinal food allergy and intolerance. Mechanisms of diarrhoea. Creed F. discussion 69–71. Endoscopy 2004. WHO/FCH/CAH/04. J Paediatr Child Health 1999.46 suppl 2:S81–122.46:619–21. clinical features and outcome. 21 Sperber AD. Duggan C. J Pediatr Gastroenterol Nutr 2008. Aziz Q. Managing acute gastroenteritis among children: oral rehydration. Dirks MH. 23 Gregg CR. Nestle Nutr Workshop Ser Pediatr Program 2007. 15 Cave DR. Pediatr Clin North Am 2007. European Society for Paediatric Gastroenterology. Ann Rev Physiol 2004. Wireless video capsule endoscopy. Ann Pediatr 2003. Chronic enteropathy: clinical aspects. Scholz T. Chronic diarrhoea in infants and young children: causes. 10 WHO/UNICEF Joint Statement.66:385–417. and Nutrition/European Society for Paediatric Infectious Diseases evidence-based guidelines for the management of acute gastroenteritis in children in Europe. Nestle Nutr Workshop Ser Pediatr Program 2005.Diarrhoea 33 6 King CK. 24 Assaad AH. Binder J. . The value of capsule endoscopy in paediatric patients with a suspicion of Crohn´s disease. Milla PJ.35(10):718–26. Malabsorption of carbohydrates. Hepatology. Sant´Anna AM.24(10):897–903.59:89–101. Endoscopy 2003. Glass R. 2004. Romero J. et al. Utilidades de la cápsula endoscópica en gastroenterología pediátrica.42:454–75. An evidence and consensus based guideline for acute diarrhoea management. J Pediatr Gastroenterol Nutr 2008. Arch Dis Child 2001. Argüelles-Martín F. 18 Argüelles-Arias F. The United Nations Children´s Fund/World Health Organization. Albano F. Zinc in the treatment of acute diarrhoea: current status and assessment. MMWR Rec Rep 2003. et al. Friger M. Probiotics in children. Probiotic in gastrointestinal diseases in children: hard and not so hard evidence of efficacy. et al.35(3):260–3.36(10):869–73. discussion 102–4. Potencial applications of wireless capsule endoscopy in the pediatric age group. Semin Gastrointest Dis 2002. 22 Spiller R.14(1):207–17. Shvartzman P. 9 Hoque KM. Oral rehydration therapy: new explanations for an old remedy. Ballières Clin Gastroenterol 1993. et al. et al. 13 Booth IW. Stephenson T. Hepatology. Caunedo A. 8 Rao MC.7:215–42. Macfaul R. Boey CC. Ostensen AB. Clin Perspec Gastroenterol 2002. 17 Aabakken L. and Nutrition/European Society for Paediatric Infectious Diseases evidence-based guidelines for the management of acute gastroenteritis in children in Europe: executive summary. Capsule endoscopy is feasible in small children. Clinical management of acute diarrhoea. Pediatr Ann 2006.56:1770–98. A comparative reappraisal of the Rome II and Rome III diagnostic criteria: are we getting closer to the ‘true’ prevalence of irritable bowel syndrome? Eur J Gastroenterol Hepatol 2007. Ashkenazi S. maintenance. 20 Fenton TR. and nutritional therapy. Bresee JS. Gut 2007. European Society for Paediatric Gastroenterology. Gastrointest Endosc Clin N Am 2004. Cohrssen A.54:949–67. Caunedo A. and Nutrition/European Society for Paediatric Infectious Diseases. 7 Armon K. Guidelines for the management of irritable bowel syndrome. Fuchs GJ.59:586–9.19(6):441–7. Gastroenterology 2006. 19 Argüelles-Arias F. Disordered small intestinal motility: a rational basis for toddlers’ diarrhoea. et al.56:57–69. 12 Gibbons T. Guarino A. Enteric bacterial flora and bacterial overgrowth syndrome.13(4):200–9. Hoekstra JH. Setty M.130:2201–5.85:132–42.5:203–7.35(9):798. J Pediatr Gastroenterol Nutr 2006. Hanaway P. Mrukowicz J. 25 Kneepkens CM. Guandalini S. Harries JT.
and it is generally caused by a maladaptative response to defecation (4. Constipation is a common symptom in paediatric clinical practice. and Jerónimo Gonzálvez. constipation can be caused by many different disorders (Table 4. As a symptom. MD Definition and aetiology Constipation can be defined as the delay or difficulty in defecation occurring for ≥2 weeks and causing significant distress to the patient.1) but 90% of all constipated children have functional constipation. with no identifiable organic or anatomical cause.2). fear of defecation after a painful experience and repeated attempts of voluntary withholding of stools (vicious circle theory) lead to the Table 4. MD.1 Differential diagnosis of constipation Functional constipation (90%) Organic constipation (10%) • Anatomical malformations – Anal stenosis – Imperforatus anus – Anterior displaced anus – Pelvic mass (sacral teratoma) • Neuromuscular disorders – Cerebral palsy. The term ‘functional constipation’ (also called idiopathic or retentive constipation or psychogenic megacolon) describes all children in whom constipation does not have an organic aetiology.34 Chapter 4 Constipation Carolina Gutiérrez. In functional constipation. Normal defecation and functional constipation Mechanisms of normal defecation and continence are summarized in figure 4. hypotonia – Disorders of the spinal cord – Myelomeningocoele – Spinal cord trauma – Spinal cord tumour – Muscular dystrophy • Metabolic and endocrine disorders – Hypothyroidism – Renal acidosis – Diabetes insipidus – Hypercalcaemia – Hypokalaemia • Intestinal nerve or muscle disorders – Hirschsprung’s disease – Neuronal intestinal dysplasia – Chronic intestinal pseudoobstruction • Gastrointestinal diseases – Coeliac disease – Cystic fibrosis – Cow’s milk intolerance • Abnormal abdominal musculature – Prune belly syndrome – Gastroschisis – Down syndrome • Drugs – Antacids – Codein – Phenytoin – Opiates – Antidepressants – Anticholinergics – Iron .1. accounting for 3% of all general paediatric visits and between 10 and 25% of all cases in paediatric gastroenterology reference units.
Onset of functional constipation occurs in one of three periods: (1) in infants. Defecation convenient Defecation inconvenient • Diaphragms and abdominal muscle contraction • Increased intrarectal pressure • Puborectalis muscle relaxation • EAE relaxation • Mediated by the voluntary nervous system • Puborectalis muscle contraction • EAE contraction • Accommodation of rectum to its contents • Mediated by the voluntary nervous system Evacuation of stools Defecation postponed 4. or encopresis. the role played by the cerebral cortex in these events is not yet developed.2 Pathophysiology of functional constipation.3). Functional disorders of defecation include infant dyschezia and functional constipation in infants and children (Table 4.Constipation 35 Sigmoid contraction Painful defecation Fear of defecation Stools in rectum Rectal distension A faecal mass accumulates in rectum With-holding behaviour • Temporary reflex relaxation of the IAE (RAIR) mediated by the autonomic nervous system • Stool in contact with sensitive receptors in anal canal • Simultaneous contraction of EAE giving time to decide if circumstances are appropriate for defecation • Functional megarectum • Loss of rectal sensitivity • Pelvic floor muscle fatigue • Anal sphincter incontinence • Overflow incontinence 4. therefore.1 Normal mechanism of defecation and continence. IAE: internal anal sphincter. Diagnostic criteria for childhood functional gastrointestinal disorders. 3. . (2) in toddlers acquiring toilet skills. Encopresis is the involuntary loss of stool into the child’s underwear in a child with functional constipation after the acquisition of the toilet skills that are acquired by most children by the age of 4 years. In newborn babies and very young infants. Table 4. formation of a functional megarectum with loss of rectal sensitivity and of the normal need to defecate. defecation occurs when the internal sphincter relaxes. Constitutional and inherited factors such as slow intrinsic motility and low fibre diet may contribute to constipation. causing overflow incontinence and nonvoluntary expulsion of faeces. and (3) in children as school starts. often corresponding with the change from breast milk to commercial formula or introduction of solids. EAE: external anal sphincter.2 summarizes the main clinical symptoms and complications in children with functional constipation1. Progressive accumulation of feces in the rectum leads to pelvic floor muscle fatigue and anal sphincter poor competence. RAIR: rectoanal inhibitory reflex. known as the Rome III criteria have been recently reviewed2.
holding onto furniture. Parents need to be reassured that the phenomenon is part of the child’s learning process and that no intervention is necessary.36 Constipation Table 4. megacystis. ureteral obstruction • Immediate resolution of symptoms after the passage of a huge stool • Anal fissures • Rectal prolapse Table 4. . urinary retention. anal or rectal pain • Anorexia • Encopresis: sometimes is the first symptom and it is confused with chronic diarrhoea • Urinary symptoms: – Night-time urinary incontinence – Daytime urinary incontinence – Urinary tract infection – Less frequently: vesicoureteral reflux. Rectal stimulation should be avoided to prevent artificial sensory experiences and laxatives are unnecessary. The symptoms resolve spontaneously after a few weeks and are probably related to a failure to coordinate increased intra-abdominal pressure with pelvic floor relaxation. decreased appetite and/or early satiety. Functional constipation (neonate and toddler) Must include 1 month of at least 2 of the following in infants up to 4 years of age 1 Two or fewer defecations per week 2 At least 1 episode per week of incontinence after the acquisition of toileting skills 3 History of excessive stool retention 4 History of painful or hard bowel movements 5 Presence of a large faecal mass in the rectum 6 History of large-diameter stools that may obstruct the toilet Accompanying symptoms may include irritability. The accompanying symptoms disappear immediately following passage of a large stool H3a.2 Clinical symptoms and complications in children with functional constipation • Retentive posturing: affected children are often described as standing on their toes. Functional constipation (child and adolescent) Must include 2 or more of the following in a child with a developmental age of at least 4 years*: 1 Two or fewer defecations in the toilet per week 2 At least 1 episode per week of incontinence 3 History of retentive posturing or excessive volitional stooling retention 4 History of painful or hard bowel movements 5 Presence of a large faecal mass in the rectum 6 History of large diameter stools that may obstruct the toilet *Criteria fulfilled at least once per week for at least 2 months before diagnosis Infant dyschezia Some otherwise healthy infants less than 6 months of age appear to have significant discomfort and excessive straining associated with passing soft stools. stiffening their legs and hiding in a corner • Infrequent and painful passage of huge stools • Abdominal pain and irritability. Infant dyschezia Must include both of the following in an infant younger than 6 months of age: 1 At least 10 minutes of straining and crying before successful passage of soft stools 2 No other health problems G7.3 Diagnostic criteria for defecation-related childhood functional gastrointestinal disorders (Rome III) G6.
in 20% to the colon proximal to the splenic flexure. The bowel proximal to the aganglionic segment becomes dilated (B) with secondary intestinal ischaemia that contributes to enterocolitis. The aganglionic segment begins in the internal anal sphincter and extends proximally. It is found in about 3% of children and toddlers with severe refractory constipation referred to the paediatric gastroenterologist (4. Normal stool frequency ranges from four per day during the first week of life to two per day at 1 year of age. Symptoms • Constipation beginning early in life • Delayed passage of meconium • Failure to thrive • Abdominal distention • Absence of encopresis • Fever.3 Hirschsprung’s disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon leading to sustained contraction of the aganglionic segment (A). bloody diarrhoea (enterocolitis) • Chronic constipation not responding to treatment Signs • Passage of liquid stools and gas after rectal digital examination • Empty rectal vault (although stool is palpable in the abdomen) • Increased anal tone • Signs of syndromes associated with HD – Down syndrome – Multiple endocrine neoplasia IIA – Congenital deafness – Waardenberg`s syndrome – Neurofibromatosis . Enterocolitis is the most serious complication and it could be the first manifestation of the disease. with an incidence of 1 in 5. these infants are usually perfectly healthy and infrequent stools relate to almost complete absorption of breast milk. The bowel proximal to the aganglionic segment becomes dilated Table 4. leaving very little residue for stool formation. Some breastfed babies have very infrequent stools of normal consistency without distress. with secondary intestinal ischaemia that contributes to enterocolitis. It is characterized by the abrupt onset of fever. mainly in 2–3-month-old infants and is associated with a mortality of 20%. There is also a very rare form of the disease in which there is an ultra-short segment involving only the very distal 2–5 cm of the rectum. abdominal distention. Mortality is reduced with early diagnosis of Hirschsprung’s disease. is the most frequent cause of lower intestinal obstruction in newborns. Hirschsprung’s disease Hirschsprung’s disease. and explosive and sometimes bloody diarrhoea.4 Signs and symptoms suggestive of Hirschsprung’s disease (HD) in constipated children 4. in 3–5% there is total colonic aganglionosis and. even less frequently.000 live births. Symptoms and signs of Hirschsprung’s disease are summarized in Table 4. The normal adult range of three per day to three per week is attained by 4 years of age. there is total intestinal aganglionosis.3).Constipation 37 Functional constipation The definition of functional constipation takes into account not only the frequency of stools but also the passage of painful bowel movements and stool retention with or without encopresis. in 75% of cases to the rectosigmoid area.4. Hirschsprung’s disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon leading to sustained contraction of the aganglionic segment.
and particularly if there is delayed passage of meconium. Laboratory tests Occult blood testing in stool is recommended in infants with constipation and in children with associated abdominal pain. A positive occult blood test suggests enterocolitis or other causes of intestinal inflammation. hypercalcaemia.5 A view of an anorectal manometry station. . Constipation in early life is a special situation as it could be the expression of a serious congenital disorder such as Hirschsprung’s disease. anal malformations. A manometry probe is connected to a polygraph and a pneumohydraulic capillary infusion system. cystic fibrosis. and in the obese child when abdominal and rectal examination are suboptimal (4. 4. failure to thrive. Approximately 40% of children with functional constipation develop symptoms during the first year of life4.5). Abdominal radiographs Radiological studies are not indicated in uncomplicated constipation.6. To exclude Hirschsprung’s disease. playing with familiar toys or watching cartoons on television help to reduce anxiety in the child. or in those with signs or symptoms suggestive of organic disease. 4. The digital rectal examination is recommended to detect the faecal retention in the rectum typical of functional constipation. and coeliac disease are useful in selected cases. Anorectal manometry The main clinical role of anorectal manometry is in the evaluation of children with severe constipation not responding to treatment. in which the diagnosis of Hirschsprung`s disease needs to be excluded5. meconium plugs. reflexes in the distal extremities. Other laboratory tests to exclude 4. but functional constipation is the main cause.7). The presence of symptoms or signs suggestive of organic disease or the persistence of symptoms after treatment should lead to further evaluation. and digital rectal examination) is generally sufficient to establish the diagnosis of functional constipation. and intermittent diarrhoea.4 Abdominal X-ray showing severe faecal retention in the rectum of a child with functional constipation.4). a sweat test is recommended to exclude cystic fibrosis. An abdominal radiograph can be useful in determining the presence of faecal impaction in the child who refuses a rectal examination. or spinal cord anomalies. hypothyroidism. an Arhan type anorectal manometry probe connected to a pneumohydraulic capillary infusion system is commonly used (4. The room must be comfortable. In constipated infants.38 Constipation Diagnosis A thorough history and physical examination (including the perianal area. Different probes for anorectal manometry are available (4. spine.
C: The electrical signals from the transducers are transmitted to a computer.7 A: The open-tipped perfusion manometer with 4–8 channels is the most accurate for recording resting and squeeze pressures of the anal canal and to define the vector volume. A B: The B.Constipation 39 4. The third and fourth channels are covered by small latex balloons and located in the anal channel and the anal verge (C. This technique is especially helpful in evaluation of faecal incontinence due to postoperative states or myelomeningocoele. and D channels transmit pressure variations in water by pressure transducers to the pneumohydraulic capillary infusion system. tethered cord. a low compliance system. D).5 ml/min. and various types of spinal cord dysfunction. The second one is open to the rectal lumen (B).6 A: Anorectal manometry probe formed by a plastic tube with four interior channels. B: A soft catheter with 4–8 tiny openings around its circumference provides directional pressure measurements in four quadrants of the anal sphincter. which is able to perfuse distilled water at a rate of 0. Pressures are measured using a 1 cm station or a A continuous pull through technique. . which produces a graphic record of the pressures of the rectal ampulla (B). anal canal (C) and external anal sphincter (D). D C B A B B C C D B 4. One channel is connected to a latex balloon located in the distal segment able to distend with air (A). C.
B: Posteriorly increasing volumes of air (5–50 ml) to inflate the rectal balloon are progressively introduced. but fasting for 4–6 hours is also prudent in case the child needs sedative medication or it is necessary to feed infants during the test as a sedative manoeuvre. The RAIR is present in healthy infants (even preterm older than 26 weeks gestational age) and children and in patients with functional constipation and encopresis. Barium enema study A barium enema study is unnecessary in most children with constipation. mean anal canal resting pressure.40 Constipation An enema the night before the test is the recommended preparation.8 A: The child lies comfortably in the left lateral decubitus position and the catheter is inserted into the rectum to simultaneously measure the pressures of the rectal ampulla. and mean external anal sphincter resting pressure. The RAIR has been reported to be absent. The amplitude of volume relaxation increases with increasing balloon distention volume.8–4. Most infants and children can be tested without sedation. i. although some patients may need 2–3 days of enema administration to assure an empty rectal vault. or normal in patients with neuronal intestinal dysplasia. Technique and interpretation are summarized in figures 4. After a 10-minute stabilization period. The procedure should be explained to the child and the parents to reduce anxiety and promote cooperation. at times 120 ml is needed to demonstrate the reflex. 4. 4. and external anal sphincter. This triggers the rectoanal inhibitory reflex (RAIR). anal canal. the following A B parameters are recorded: mean rectal ampullar resting pressure. The threshold volume to elicit RAIR may be quite high in chronically constipated children. An unprepared barium enema is useful in children with Hirschsprung’s disease to delineate the extent and the location of a transition zone between the tight aganglionic segment and the dilated proximal colon (4.e the drop of anal pressure during rectal distention transmitted by the ganglion cells of the submucosal and myenteric plexus. and is less accurate than anorectal manometry and rectal biopsy in the diagnosis of Hirschsprung’s disease5. . atypical.10.9 The RAIR is persistently absent in Hirschsprung`s disease because of the absence of ganglion cells that would transmit the distention reflex to the internal anal sphincter. Barium enema and rectal biopsy to exclude Hirschsprung’s disease need to be performed in all patients with absent or atypical RAIR.11).
by asking the child to expel the manometric balloon. The normal anus has a paucity or absence of ganglion cells at the level of the anal verge.10 In chronic refractory constipation defecatory dynamics should also be assessed. Biopsies should be deep enough to include adequate submucosa. or a full-thickness biopsy can be performed. To avoid missing a rare case of ultra-short segment Hirschsprung`s disease.13). There is simultaneous increase in external anal sphincter. 4. and rectal pressures on attempted balloon expulsion. but who have no objective findings of . Barium enema should not be performed in suspected enterocolitis as it can cause perforation. an increase in rectal pressure (Valsalva manoeuvre with abdominal compression) with a simultaneous drop in anal canal and external anal sphincter pressures (relaxation of the anal sphincter and perineal descent) are recorded. The biopsy can be obtained by suction at the bedside or office.and/or 48-hour followup abdominal radiograph including lateral projection could be performed. anal canal. defecation is simulated. Rectal biopsy Rectal biopsy stained for acetylcholinesterase activity is the best test to rule out Hirschsprung’s disease and should be performed in infants and children with suggestive clinical data and absence or atypical RAIR in anorectal manometry5. The presence of paradoxical anal contraction is correlated to severe constipation refractory to treatment. A normal barium enema does not rule out HD: in young infants a transition zone may not be seen simply because there has not been enough time to distend the ganglionic portion of the colon with stool.11 Barium enema in Hirschsprung’s disease (HD) showing a transition zone from aganglionic to ganglionic bowel. The arrows point to the transition zone. muscularis mucosa. Patients with total aganglionosis may present with microcolon or normal calibre colon.Constipation 41 4. Colonic transit study The estimation of total and segmentary colonic transit time is useful in two main situations: (1) to provide objective information in children who report infrequent bowel movements.12). Biofeedback designed to instruct patients on sphincter relaxation may help these patients. it is recommended to perform rectal biopsy 2–3 cm above the mucocutaneous junction. If the initial enema is not diagnostic a 24. and submucosa are the hallmark of the disease (4. Normally. Occasionally suction biopsies are not diagnostic and a fullthickness biopsy is necessary (4. It is important not to cleanse the colon in order to accentuate the transition zone and the catheter should be inserted at the end of the anal canal in order to avoid missing short-segment disease. Paradoxical puborectalis contraction of the external anal sphincter can be demonstrated in children with chronic constipation and constitutes the manometric expression of the faecal retention behaviour. Prolonged retention of barium suggests the diagnosis of HD. Histopathological absence of ganglion cells in the myenteric and submucosal plexus and the presence of hypertrophied nerve fibres in the lamina propria.
An anteroposterior abdominal control radiographic study is performed on day 7 (at 9:00 am). A abdominal radiograph to assess their progression through the colon is used to determine the colonic transit time (CTT) in patients with chronic constipation6 (4. B 4. and (2) in children with chronic constipation refractory to conventional treatment. follow-up. Haematoxylin and eosin stain of colonic biopsy showing myenteric plexus with ganglionic cells (2) between the circular and longitudinal muscle layers (1).14. The capsules contain different marker forms (B). maintenance treatment. which can be obtained by suction technique. 1 2 1 1 B 4. B: Hirschsprung`s disease (HD).12 In infants requiring laparotomy or in definitive surgical procedure.17)6. 4. The most common reason for poor outcome is insufficient treatment. 7 (Tables 4. 1: Muscle layers.15).13 A: Normal subject.7). 4. Management Most children with functional constipation with or without encopresis will benefit from a precise. Acetylcholinesterase staining of colonic biopsy in HD shows an increased submucosal nerve plexus.14 A gelatin capsule with 10 polyurethane radiopaque markers containing barium sulphate USP is administered at 9:00 am on each of 6 consecutive days (A). as most of these nerve fibres are cholinergic. The determination of segmental CTT is useful in chronic refractory constipation (4. The histochemical staining for acetylcholinesterase requires only the lamina propria of the mucosa.5–4. 2: myenteric plexus (no ganglion cells). and treatment of recurrences4.16. disimpaction. Ganglion cells are absent in the intermuscular plexus with increase in nerve fibres. The presence of prolonged CTT in children with infrequent bowel movements constitutes an objective sign of constipation.42 Constipation 2 1 2 1 1 A 2 1 4. fullthickness biopsies are obtained to determine the level at which ganglionic bowel begins (levelling procedure). Ingestion of radio-opaque markers followed by . serial. and especially the reluctance of parents and physicians to the use of constipation on repeated physical examination. wellorganized plan including education. progressively proximal.
. and the rectosigmoid colon.Constipation 43 4. (Total colonic transit time = 120 hours. 13. laxatives for sufficient periods of time7. consideration may be given to a time-limited trial of a cow’s milk-free diet12. 4.6 hours. Counting the markers yield the following transit times: total colonic transit time and the segmental colonic transit times for the right colon. lines are in turn traced to the left anterosuperior iliac spine and to the right pelvic outlet. and rectosigmoid colon. establishing areas corresponding to the right colon (caecum. Using L5 as centre. right colon = 26.16 Constipation with colonic inertia.6 hours. especially those showing distal delay in CTT and paradoxical anal contraction in anorectal manometry14. descending colon).4 hours.17 Constipation with delayed left colonic and rectosigmoid transit.10).4 hours. anorectal biofeedback training provides auditory and visual information about anal sphincter pressure. rectosigmoid colon = 60 hours). For cooperative children. In children unresponsive to conventional management.15 To determine the segmental transit time. right colon = 14. anal sphincter to produce evacuation and continence and it can help them to reduce the threshold volume for rectal sensation (4. amenable to treatment with prokinetic drugs. rectosigmoid colon = 40.4 hours. left colon (distal half of transverse colon. left colon = 26. (Total colonic transit time = 93. Children learn to relax or contract the 4. Maintenance therapy may be necessary for many months.8 hours). A global delay in colonic transit may suggest the presence of a more generalized alteration in colonic motility. Primary care providers and families should be aware that relapses are common and that difficulty with bowel movements may continue into adolescence. 8. Biofeedback consists of teaching to recognize rectal distention. and to coordinate these functions with the help of anorectal pressure recording. It has been shown to be an effective short-term treatment of children with severe intractable constipation. These transit times are estimated using the following formula: colon transit time = (sum of the markers × [time between administration ÷ number of markers per capsule]) = sum of the markers × 2. ascending colon. the left colon. tracing a line joining the spinal processes of all the vertebrae to L5. to contract and relax external anal sphincter and puborectalis muscle.4. left colon = 45. A collection of markers in the left colon and rectosigmoid colon suggests outlet dysfunction such as paradoxical puborectalis contraction that could be demonstrated in anorectal manometry and may improve with various forms of biofeedback therapy. proximal half of transverse colon). three areas are delineated.
7 • Gradual weaning of medication after months of regular defecatory habits • Treatment of recurrences Follow-up Table 4. tap water.5 Treatment of functional constipation Education • Explanation of normal defecation mechanism and pathogenesis of functional constipation. or magnesium enemas . including faecal soiling as an involuntary consequence of functional constipation • Try to obtain a positive and supportive attitude of parents • Explain chronicity and possible recurrences See Table 4. See Table 4. reduce dairy products.6 Disimpactation if faecal impaction detected Maintenance treatment Diet • Increase intake of fluid.44 Constipation Table 4.5 g/kg/day for 3 days 3 ml/kg/twice day for 7 days 2 ml/kg/twice day for 7 days 2–6 years: 4–7 mg/dose (2 doses) >6 years: 7–15 mg/dose (2 doses) Polyethylene glycol without electrolytes Mineral oil Lactulose or sorbitol Senna Rectal Glycerin suppositories Physiological enema Contraindicated: soapsuds. usually 12–20 hours are needed) 1. Continuous administration may be necessary for 3–6 months10 • Lubricants and osmotic agents are effective and safe in children11. • Fibre ingestion preferably from natural food: age (years) + 5 g/day until 30 g/day9 • • • • Regular toilet habits Unhurried time after meals Diaries of stool frequency Reward system Behavioural modification Medication • Early recommendation.6 Disimpactation treatment Oral >2 years Polyethylene glycol with electrolytes 25 ml/kg/h up to 1000 ml/h until clear liquid stools (premedication with metoclopramide 5 mg.
Oberklaid F. J Pediatr Gastroenterol Nutr 2006. Hyams JS (eds). 177–91.33(3):199–205. Liptak G.130(5):1519–26.338(8766):523–7. Kovatchev B. Di Lorenzo C (eds). Anorectal manometry and Biofeedback training. Childhood functional gastrointestinal disorders: neonate/toddler. Academy Professional Information Services. Pediatric Gastrointestinal Motility Disorders. 12 Andiran F. 1994. Management. Intolerance of cow’s milk and chronic constipation in children. Philadelphia. Hepatology. et al. 13 Iacono G. Treatment of childhood constipation by primary care physicians: efficacy and predictors of outcome. et al. Cavataio F.39(5):329–31.Constipation 45 Table 4. . J Clin Gastroenterol 2001. Dayi S. J Pediatr Gastroenterol Nutr 2002. Position of the American Dietetic Association: health implications of dietary fiber. J Am Diet Assoc 2002. Randomized trial of laxatives in treatment of childhood encopresis. Bourke B.42(5):496–505. Cox DJ. 9 Marlett JA. et al. 2 Hyman PE. Hyams JS (eds). Saunders. Urinary incontinence and urinary tract infection and their resolution with treatment of chronic constipation of childhood. In: Wyllie R. Colletti R. Diagnosis. Milla PJ. 10 Nolan T.29:612–26. Arch Dis Child 2001. Management. Constipation and encopresis. pp. 231–52.339(16):1100–4.115(4):873–7. Mete E. 8 Borowitz SM.46(9):1208–17. Paediatrics 2005. Constipation in infants and children: evaluation and treatment: a medical position statement of the North American Society for Pediatric Gastroenterology and Nutrition. Hirschsprung`s disease. 5 de Lorijn F. et al. Baker SS. In: Wyllie R. Colletti RB.7 g/kg/day in 1–2 doses >12 months 1–3 ml/kg/day in 1–2 doses References 1 Loening-Baucke V. 735–48. Diagnosis. Further reading Baker S. Pediatric Gastrointestinal Disease: Pathophysiology. J Paediatr Child Health 2003. Stallion A. Diagnostic tests in Hirschsprung disease: a systematic review. New York. Philadelphia 2006. Dough Kou T. Polyethylene glycol without electrolytes for children with constipation and encopresis. 2006.7 Maintenance treatment Osmotics Magnesium hydroxide Lactulose or sorbitol Polyethylene glycol 3350 without electrolytes Lubricants Mineral oil Age >1 month >1 month >1 month Dose 1–3 ml/kg/day in 1–2 doses 1–3 ml/kg/day in 1–2 doses 0. J Pediatr Gastroenterol Nutr 2006. 6 Gutierrez C. In: Hyman PE. Cow’s milk consumption in constipation and anal fissure in infants and young children.100(2 Pt 1):228–32. Jones KR. Loening-Baucke V. Forbes D. Kremer LC. Montalto G. pp. Coffey C.35(1):31–8. 4 Youssef NN. Biofeedback treatment of constipation: a critical review. et al. Crushell E. McBurney MI. Nogales A. O’Driscoll K. Pediatric Gastrointestinal Disease: Pathophysiology. Childhood constipation: evaluation and treatment.102(7):993–1000. Loening-Baucke V. 14 Heymen S. Di Lorenzo C. et al. J Pediatr Gastroenterol Nutr 2002. pp.130(5):1527–37. Lancet 1991. N Engl J Med 1998. 3 Rasquin A. Benninga MA. and Nutrition. Reitsma JB. Liptak GS. Gastroenterology 2006. Benninga MA. Paediatrics 1997. Dis Colon Rectum 2003. 11 Sharif F. Slavin JL. Childhood functional gastrointestinal disorders: child/adolescent. Debelle G. Gastroenterology 2006. J Pediatr Gastroenterol Nutr 1999.85(2):121–4. Saunders.43:405–7. Scarlett Y. Evaluation and treatment of constipation in infants and children: summary of updated recommendations of the North American Society for Pediatric Gastroenterology. 7 Loening-Baucke V. Total and segmental colonic transit time and anorectal manometry in children with chronic idiopathic constipation. Di Lorenzo C. Marco A. Liquid paraffin: a reappraisal of its role in the treatment of constipation.34(4):372–7. Whitehead WE. Tebar R.
On the other hand. Functional Histamine Traction Bradykinin PGs Torsion Contraction Functional Chemical Mechanical Distension Organic Organic Seratonin Chloride Stretch Pain Acute abdominal pain Chronic abdominal pain Age Day/night Culture 5.46 Chapter 5 Abdominal pain in childhood Iñaki X. PhD Introduction Abdominal pain is one of the most challenging symptoms in paediatric practice. Vitoria Cormenzana. and not every pain originating in the abdomen is perceived in the abdomen. Main receptors in each location will respond to specific stimuli types. the specific pattern of abdominal pain sensation will help to establish the diagnosis. and in the mucosal surfaces. Irastorza Terradillos. an intense diagnostic approach in order to avoid misidentification of potentially underlying medical or surgical problems. Specific types of pain receptors are located in the abdominal wall. Not every pain perceived in the abdomen originates in the abdomen. Mechanical stretch and chemical stimuli are the main triggers involved in visceral nociceptor activation.2 Genesis and perception of abdominal pain. most currently functional in origin.1). MD. chronic abdominal pain. Abdominal pain receptors can be triggered by mechanical and chemical stimuli (5. MD. abdominal pain may require. . Often imprecise. Furthermore. The paediatrician can also be affected by this stress and can be ‘forced’ to prescribe multiple unnecessary medical investigations (5. Understanding the neurophysiology of pain perception is crucial to making an appropriate diagnostic approach. Family School Illness? 5. characteristics of abdominal pain are very diverse. and Juan C.2). in the hollow viscera wall. especially if acute. frequently generates a situation of familial and patient stress due to the persistent recurrence of symptoms. in the serosal surfaces.1 Aetiology of acute and chronic abdominal pain. in the mesentery.
ureters.Abdominal pain in childhood 47 Pain of bilaterally innervated organs (i. gallbladder.4 Aetiology of recurrent abdominal pain. signs. Pain perceived on one side usually comes from nondigestive intra-abdominal organs (ovary. splenomegaly Abdominal mass effect Family history of inflammatory bowel disease.1 Alarm symptoms.3 Incidence of recurrent abdominal pain by age. signs. Boys Girls Organic Organic Functional Functional 0 2 4 6 8 Age (years) 10 12 14 1958 2000 5. and features in recurrent abdominal pain Pain distant from umbilicus (right upper or right lower quadrant pain) Dysphagia Persistent vomiting Gastrointestinal blood loss Nocturnal and/or severe diarrhoea Hepatomegaly. In their absence. Table 5.3)1. and features that should make the physician suspect that the pain has an organic background are listed in Table 5. ascending and descending colon. coeliac disease.4).1. In order to avoid unnecessary tests a conservative approach is appropriate. only 10% of patients had a definitive diagnosis. New pathological entities such as Helicobacter pylori infection or non-IgE mediated food allergies and the development of diagnostic techniques has allowed diagnosis to improve to up to 50% of patients (5. pain is very likely to have a functional origin and therefore most tests will be unnecessary. leading only to increase familial anxiety. or peptic ulcer disease Arthritis Perirectal disease Involuntary weight loss Deceleration of linear growth Delayed puberty Dysuria or haematuria Respiratory symptoms Tenderness over the spine or at the costovertebral angle Unexplained fever Pain that wakes up the child Chronic abdominal pain Complaints of recurrent abdominal pain affect 10–40% of children and its prevalence increases with age (5. Alarm symptoms. When recurrent abdominal pain was first described in 19582. . or abdominal wall which are mainly ipsilaterally innervated.e. 5. 90% of patients remained undiagnosed or labelled as ‘suspected functional abdominal pain’. small intestine) is perceived in the midline. and kidneys).
Abdominal pain in childhood
Functional gastrointestinal disorders
Functional gastrointestinal disorders (FGID) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities. A symptoms-based classification, rather than a targeted organ-based one, has been set by the Rome III committee (Table 5.2) (5.5)3. To establish the diagnosis of functional dyspepsia (Table 5.4) it is therefore necessary to rule out organic diseases presenting with dyspepsia, such as gastro-oesophageal reflux disease (5.6, 5.7), Helicobacter pylori infection, eosinophilic oesophagitis, and gastritis.
Dyspepsia is pain or discomfort localized in the upper abdomen. Symptoms may vary including fullness, early satiety, bloating, nausea, retching, and vomiting. No signs or symptoms reliably differentiate functional dyspepsia from upper gastrointestinal organic disorders (Table 5.3)4.
Table 5.2 Functional gastrointestinal disorders
Vomiting and aerophagia Adolescent rumination syndrome Cyclic vomiting syndrome Aerophagia Abdominal pain-related FGID Functional dyspepsia* Irritable bowel syndrome* Abdominal migraine* Functional abdominal pain
Functional abdominal pain Functional abdominal pain syndrome
Constipation and incontinence Functional constipation Nonretentive faecal incontinence Although presented as independent categories, only a minority of patients shall be classified in any of the first three specific categories (*), while most will fall within the ‘Functional abdominal pain’ open-box category
Irritable bowel syndrome
5.5 Overview of abdominal pain-related functional gastrointestinal disease.
Table 5.3 Abdominal pain-related functional gastrointestinal disorders diagnostic approach
Suspected disorder Functional dyspepsia Functional abdominal pain Irritable bowel syndrome Abdominal migraine
Diagnostic tests Always required Depending on anamnesis Not required Not required If diagnostic criteria fulfilled If diagnostic criteria fulfilled No signs or symptoms reliably differentiates organic from functional
Abdominal pain in childhood 49
Table 5.4 Diagnostic criteria for functional dyspepsia
• Persistent or recurrent pain or discomfort centred in the upper abdomen (above the umbilicus) • Pain not relieved by defecation or associated with onset of a change in stool frequency or consistency • No evidence of inflammatory, anatomic, metabolic, or neoplastic process that explains subject’s symptoms All three criteria must be fulfilled at least once per week for at least 2 months
5.6 Gastro-oesophagic reflux. pH study of severe gastro-oesophagic reflux in a 7-year-old patient with epigastric pain, heartburn, and vomiting. Endoscopy of reflux oesophagitis (inset).
5.7 Gastric emptying scintigraphy. Same patient as in 5.6 after treatment with proton pump inhibitors, showing very slow gastric emptying with associated nonacid gastro-oesophageal reflux.
Abdominal pain in childhood
Irritable bowel syndrome
Irritable bowel syndrome (IBS) is characterized by episodes of recurrent abdominal pain temporally associated with altered bowel habits: either constipation or diarrhoea (Table 5.5). If the child fulfils the diagnostic criteria no further
investigations are required. Aetiology of IBS is multifactorial and not completely understood (5.8)5, 6. Available therapeutic options are summarized in Table 5.6, although most of these patients’ symptoms improve if they manage to reduce or dominate the stress intervening factors.
Table 5.5 Diagnostic criteria for IBS • Abdominal discomfort or pain associated with 2 or more of the following at least 25% of the time: – Improvement with defecation – Onset associated with a change in frequency of stool – Onset associated with a change in consistency of stool • No evidence of inflammatory, anatomic, metabolic, or neoplastic process that explains subject’s symptoms Both criteria must be fulfilled at least once per week for at least 2 months
Table 5.6 Treatment of abdominal pain-related FIGD Functional dyspepsia • Avoidance of nonsteroidal anti-inflammatory drugs • Avoidance of foods that aggravate symptoms: – Caffeine – Spicy foods – Fruit juices – Fatty foods • H2 blockers • Proton pump inhibitors • Prokinetic drugs: – Domperidone – Erythromycin – Cisapride • Psychological behavioural intervention Irritable bowel syndrome • Peppermint oil • Psychological behavioural intervention Abdominal migraine • Avoidance of foods containing: – Caffeine – Nitrites – Amines • Behavioural intervention • Drugs: – Pizotifen – Propanolol – Cyproheptadine – Sumatriptan Functional abdominal pain • Psychosocial intervention • Tricyclic antidepressants
• Anxiety • Depression • Social learning of illness behaviour Genetic predisposition Psychological
• Infection • Inflammation • Trauma • Allergy
Visceral hypersensitivity Irritable bowel syndrome
5.8 Aetiology of IBS. Visceral hypersensitivity, often appearing after an enteral aggression event in genetically predisposed patients, may lead under stressing circumstances to IBS.
5. A: Lactose breath hydrogen test is is a noninvasive test that measures lactose nonabsorption. food allergies (5. and crypt hyperplasia. B: Duodenal biopsy with villous atrophy.9). . A B Liquid faeces 2/3 water 1/3 faeces -ve 0% Trace 1/4% + 1/2% ? 15 drops Clinitest Ames tablet +++ 1% +++ 2% ++ 3/4% Negative Positive A 5.10).11). B: Faecal reducing substances: arrival of undigested lactose to the large bowel leads to the presence of reducing sugars in the faeces.12). 5.11 Jejunal biopsy with flattened villi and increased inflammatory cellularity in lamina propria in cow’s milk protein enteropathy.Abdominal pain in childhood 51 Other disorders Other prevalent disorders that usually present with chronic abdominal pain and diarrhoea or constipation include: lactose intolerance (5. and giardiasis (5.12 Intestinal biopsy showing multiple Giardia lamblia trophozoites (inset). coeliac disease (5. B 5. inflammatory bowel disease. intraepithelial lymphocytes.9 Lactose intolerance. A: Upper gastrointestinal endoscopy in a patient with recurrent abdominal pain and positive coeliac serological markers.10 Coeliac disease.
nausea.13). periumbilical and noncolicky pain associated with anorexia. although not included in the diagnostic criteria.52 Abdominal pain in childhood Abdominal migraine Abdominal migraine is characterized by recurrent paroxysmal episodes of acute.14). recurrent pancreatitis (5.14 Barium follow-through in a patient with stenosing Crohn’s disease (arrows). 5. Treatment options are listed in Table 5. and patients often progress from one to another. A number of digestive and extradigestive conditions including renal colic. headache. The origin of abdominal migraine is linked to other functional disorders like migraine headache and cyclic vomiting syndrome. familial Mediterranean fever.13 An abdominal X-ray during an endoscopic retrograde cholangiopancreatography (ERCP) shows gallstones in bile ducts in a patient with recurrent pancreatitis. Abdominal migraine is one of the functional disorders that present more familial aggregation. Familial aggregation and response to antimigraine drugs. choledocholithiasis. support the diagnosis. Crohn’s disease (5. vomiting. Table 5. acute periumbilical pain that last for 1 hour or more • Intervening periods of usual health lasting weeks to months • Pain interferes with normal activities • Pain is associated with two or more of the following: – Anorexia – Vomiting – Photophobia – Nausea – Headache – Pallor • No evidence of inflammatory.7).7 Diagnostic criteria for abdominal migraine • Paroxysmal episodes of intense. and porphyria. or neoplastic process that explains subject’s symptoms All five criteria must be fulfilled at least twice in the preceding 12 months 5. . must be ruled out before establishing the diagnosis of abdominal migraine. and pallor (Table 5.6. anatomic. metabolic.
limb pain. They represent the vast majority of patients consulting for recurrent abdominal pain in primary paediatric care. eosinophilic enteritis. Functional abdominal pain diagnosis can be difficult to establish as there are no specific criteria as there are for other abdominal pain-related FGID. chronic pyelonephritis.10) in order to exclude an organic origin of the symptoms.8). It is therefore sensible to perform some basic investigations (Table 5. Depending on the signs.16). food intolerances. Functional abdominal pain syndrome has been described for a subgroup of patients with functional abdominal pain with more persistent abdominal symptoms associated with other somatic symptoms (Table 5. However. A pychosocial approach in patients with functional abdominal pain is particularly indicated because the symptoms are often associated with varying degrees of anxiety. Helicobacter pylori infection. symptoms.Abdominal pain in childhood 53 Childhood functional abdominal pain Children with recurrent abdominal pain episodes that do not fulfil the previous categories but in whom organic pathology has been reasonably excluded fall within this category (Table 5. depression. it is important to remember that in most cases there will be no organic underlying disease and that not every endoscopic or radiological finding will prove an organic aetiology (5. Behavioural intervention associated or not with antidepressant drugs is indicated in these patients7. and parasite infestation.15). Routine investigations are not required in every patient. or manipulative behaviour.10 Investigations in patients with suspected functional abdominal pain • Full blood count • C-reactive protein • Erythrocyte sedimentation rate • Amylase • Sugars breath hydrogen test • Helicobacter pylori test • Stool culture and examination for ova and parasites • Urinalysis and urine culture • Pregnancy test Table 5.9 Diagnostic criteria for functional abdominal pain syndrome • Functional abdominal pain at least 25% of the time and at least one of the following: – Some loss of daily activity – Additional somatic symptoms: headache.8 Diagnostic criteria for functional abdominal pain • Episodic or continuous abdominal pain • Insufficient criteria for other FGID • No evidence of inflammatory. Differential diagnosis include a wide range of digestive and nondigestive diseases such as coeliac disease (5. age. anatomic. inflammatory bowel disease (5.9). or difficulty sleeping Criteria must be fulfilled at least once per week for at least 2 months • Barium swallow • Barium follow-through • Abdominal ultrasound scan • CT scan • MRI • Endoscopy . Table 5. or neoplastic process that explains the subject’s symptoms All three criteria must be fulfilled at least once per week for at least 2 months Table 5. metabolic. and gender of the patient it will be reasonable to decide the laboratory and radiological tests to perform or decide if the patient requires an endoscopy.17).
B C 5. A: Ovarian cyst.17 Casual findings in patients with recurrent abdominal pain. It has been reported that milk intolerance or oesophagitis might be the cause of excessive crying. 5.15 Trichobezoar removed from the stomach of a girl with recurrent abdominal pain and undiagnosed coeliac disease. . many infants with recurrent paroxysms of irritability. Rhythmic rocking and a car ride are efficient manoeuvres to calm the infant. Infant colic Although it has not been proven that infant colic has a digestive or even abdominal origin.12).11. The most important point is to reassure parents. A B 5. to make sure they understand that colic is ‘something infants do. fussing. B: porcelain gallbladder (arrow).54 Abdominal pain in childhood A 5. A therapeutic trial with a hydrolysed protein formula or medication to suppress gastric acid secretion would be a reasonable approach10. 11.16 Same findings in barium enema (A). and crying8 episodes are referred to paediatric gastroenterologists (Tables 5. rather than a condition they have’9. abdominal MRI (B) and HMPAO-Tc99m leukocytes scintigraphy (C) in a patient with ascending colon stenosing Crohn’s disease.
Talley NJ. 2 Apley J.23:268–74. Am J Gastroenterol 1998. et al. 4 Boyle JT. Youssef NW. Benninga MA. Gastroenterology 2006. Functional gastrointestinal disorders: child/adolescent. Cincinnati. Cobb IC. pp. fussing.10:294–301. Nutr Clin Pract 2008. Pediatrics 1989. Naish N.113:817–24. McOmber MA. Factors influencing functional abdominal pain in children. Nature.122:2032–48.93:1311–17. anxiety.9. pacification. In: Barr RG. Recurrent abdominal pain. Arch Dis Child 1958. Milla PJ.11 Diagnostic criteria and supporting features for infant colic Diagnostic criteria • Paroxysms of irritability. Further reading Barad AV. Bridge J. headache. Pediatrics 2004. 3 Rasquin A. 2001. Evolving pathophysiologic models of functional gastrointestinal disorders. Perez ME. Dyspepsia in childhood and adolescence: insights and treatment conditions. Forbes D. Johnson & Johnson Pediatric Institute. inconsolable crying • Crying after feedings • Facial grimace • Abdominal distension • Increased gas • Flushing • Legs flexed over the abdomen • Rhythmic rocking and patting quietens the baby • Car riding stops the crying Table 5. Di Lorenzo C. or crying • Episodes lasting 3 or more hours per day and occurring at least 3 days per week for at least 1 week • No failure to thrive All the criteria must be fulfilled in infants from birth to 4 months of age Supporting features • Starts and stops suddenly • Occurs late in the day • Prolonged. 9 Barr RG. Saps M. Pediatrics 1972. and Management. Gastroenterology 2002.14:421–34. rather than a condition they ‘have’: a developmental approach to crying phenomena. ‘Colic’ is something infants do.000 school children. Jackson EB. and limb pains in children and adolescents.130(5):1527–37. et al. Cow’s milk whey protein elicits symptoms of infant colic in colicky formula-fed infants: a double blind crossover study. Recurrent abdominal pain: an update. 87–104. Collins SM. and (patho)genesis. Lindberg T.12 Treatment of infant colic • Parent reassurance • Rhythmic rocking and patting 2–3 times per second in a quiet environment • Car ride • Time-limited therapeutic trial: – Hydrolyzed protein formula – Medication to suppress gastric acid secretion Relief of symptoms should be apparent within 48 hours References 1 Oster J. Keefe MR (eds). patterns.18:310.33:165–70. 8 Wessel MA. Curr Gastroenterol Rep 2008. Curr Gastroenterol Rep 2007. Recurrent abdominal pains: a field survey of 1. Recurrent abdominal pain. Shulman RJ. . 7 Campo JV.50:429. Paroxysmal fussing in infancy. et al. Ehmann M. Boyce PM. sometimes called colic. Pediatric functional gastrointestinal disorders. New Evidence on Unexplained Early Crying: its Origins. Pediatr Rev 1997.83:262–6. 11 Hyman PE. Evidence of a genetic contribution to functional bowel disorder. Pediatrics 1954. 5 Mayer EA. 10 Lothe L.447–55. Gastroenterology 2006. St James-Roberts I. 6 Morris-Yates A. Childhood functional gastrointestinal disorders: neonate/toddler. et al.130:1519–26. et al. and depression in primary care.Abdominal pain in childhood 55 Table 5.
The attending paediatrician should act promptly and adequately to the degree of haemodynamic instability and initiate a diagnostic work-up according to the mode of presentation and common age-specific causes of GI haemorrhage. Haematemesis Haematemesis is the vomiting of bright-red ‘fresh’ blood. Although rectal bleeding is quite common in paediatric practice. shiny. MD. 3. It is reasonable to assume that the incidence of upper GI bleeding in infants and children is even lower. especially if bleeding is severe. or ‘coffee ground’ emesis of dark-brown ‘old’ blood with haemoglobin (Hb) converted to haematin in the stomach by hydrochloric acid. the risk of upper GI bleeding is higher (between 6. should be ruled out. occult bleeding. Usually. PhD Introduction Bleeding from the gastrointestinal (GI) tract in infants and children is always stressful and frightening for patients and their parents and challenging for a physician. which often lead to severe microcytic anaemia.3% of all visits to a tertiary emergency department during a 10-month period4.2 and 10. the epidemiology of this problem is not well established. It suggests bleeding from the upper GI tract. or proximal duodenum. Melena Melena implies liquid. haematemesis reflects acute bleeding from the oesophagus. Occult gastrointestinal bleeding Occult GI bleeding is the presence of an invisible quantity of blood in stool detected by a special technique. and epistaxis in older children. the site of bleeding can be found in the ileum or right colon. Definitions Assessment There are four presentations of blood loss from the GI tract: haematemesis. Melena suggests a minimum loss of 50–100 ml5 or 2% of blood volume6. It is a synonym of chronic.2%) in infants and children admitted to paediatric intensive care units2. melena.000 adults per year. However. and haematochezia. Epidemiology The incidence of upper GI bleeding among infants and children is unknown. tarry. recurrent losses of small amounts of blood. According to published data. in this case stool is black but not tarry. which is almost 4 to 5 times less than among older groups1. Initial assessment of the child with suspected GI bleeding should be focused on haemodynamic stability and clues for the . This may be pure blood. Haematochezia Haematochezia is the passage of bright red or maroon blood from the rectum. sticky. Occasionally.56 Chapter 6 Gastrointestinal bleeding George Gershman. Swallowing of maternal blood in neonates. Stool may remain black or tarry for a few days after massive haemorrhage. stomach. Epidemiological data from the UK and USA indicate that the incidence of upper GI bleeding in adults younger than 29 is approximately 18–23 per 100. even though active bleeding has ceased. it is a sign of lower GI bleeding from the colon or distal ileum. coal black. bloody diarrhoea or blood mixed with stool. and foul-smelling stool. As a rule. However. rectal bleeding was a chief complaint of 0.
and orthostatic manoeuvres (Table 6. amoxicillin. Firstly. phenytoin. For example. iron. guaiac-negative stool.Gastrointestinal bleeding 57 aetiology of bleeding. Diagnosis Red food and some medications can stain stool or emesis. Alternatively. An appropriate history. Cranberries.1). Careful assessment of the Table 6. sweets. blueberries. tomatoes. and/or gastroccult-negative vomitus are sufficient to rule out a true bleeding episode. pulse. it begins to fall due to compensatory restoration of the intravascular volume by the shift of extravascular fluids into the vascular bed. and rifampin can colour stool and emesis to red or burgundy. beets. Special attention should be focused on tachycardia and narrowed pulse pressure. The value of the initial haematocrit (Hct) may not accurately reflect the severity of blood loss. it is not complete for 24–72 hours. Bismuth preparations. cherries. cranberry juice. hepatomegaly. A prompt assessment of estimated blood loss and the degree of haemodynamic instability should be done using objective criteria. It is important to remember that haematemesis and/or melena can be secondary to epistaxis. spinach. spider haemangiomata. Detailed history and physical examination can help to narrow the diagnostic work-up. activated charcoal. blood pressure. Jaundice. GI bleeding in an acutely ill. skin colour. However. prominent vessels of the abdominal wall. History of recent tonsillectomy and adenoidectomy or picking nose habits increases the probability of epistaxis.1 Manifestations of different degrees of GI blood loss Symptoms and signs Normal appearance Some anxiety Disorientation Lethargy Tachycardia Pallor Livedo reticularis Cold extremities Capillary refill <2 sec Hypotension Narrowed pulse pressure Elevated diastolic pressure Low diastolic pressure Blood loss <15% + ± – – ±* – – – – – – – – Blood loss <30% – + – ± ++ + + + + ± + + – Blood loss >30% – + + + + ++ ++ + + ++ + – + *Tachycardia could be due to agitation or anxiety in children with mild blood loss . a normal physical examination. Secondly. or ascites are signs of chronic liver disease and suggestive of portal hypertension. treatment with nonsteroidal anti-inflammatory drugs (NSAIDs) is a risk factor for acute gastric ulcers and bleeding from the stomach. such as mental status. This process begins shortly after the onset of bleeding. Thorough examination of the nose and oropharynx can help to establish the right diagnosis. At this point. capillary refill. the Hct does not fall immediately with haemorrhage due to proportionate reductions of plasma and red cell volumes. Hypotension usually occurs in the late phase of shock in children. and is an ominous finding. febrile child with jaundice could be secondary to coagulopathy or the acute ulceration of the stomach or the duodenum due to sepsis. which are the earliest signs of impending shock. strawberries. liquorice can simulate bleeding by black staining of emesis and stool. plasma volume is larger than normal and the Hct reaches its true nadir assuming that bleeding has stopped.
The largest bore tolerable tube should be placed for adequate gastric lavage: a 10 to 12 Fr sump tube is a reasonable choice for small children and 14 to 16 Fr for older patients. A tagged red blood cell scan and angiography are alternative methods used to diagnose children with active GI bleeding of obscure origin. or perianal induration. A bloody or coffee ground aspirate indicates upper GI bleeding. Room temperature saline is the optimal fluid for this procedure. Hct. especially when vascular anomalies or haemobilia are suspected. Ineffective gastric lavage indicates ongoing bleeding. Knowledge of common causes of GI bleeding in age-specific groups of children helps with the diagnostic strategy (Table 6. The absence of blood in the stomach does not exclude upper GI bleeding. Table 6. which promptly clears by gastric lavage.2 Common causes of GI bleeding in children Age Neonates (0–30 days) Upper GI Bleeding Swallowed maternal blood Stress ulcers/sepsis Haemorrhagic gastritis Haemorrhagic disease of the newborn Cow’s milk or soy protein allergy Oesophagitis ‘Prolapse gastropathy’ Low GI bleeding Necrotizing enterocolitis Midgut volvulus Hirschsprung’s disease Vascular malformation Anal fissure Allergic proctitis or enterocolitis Nodular lymphoid hyperplasia Intussusception Anal fissures Intussusception Meckel’s diverticulum Nodular lymphoid hyperplasia Polyps Infectious colitis Haemolytic uremic syndrome Henoch–Schönlein purpura Infectious colitis Ulcerative colitis Crohn’s disease Anal fissure Polyps Infants (30 days to 6 months) Infants and children (6 months to 6 years) Epistaxis Oesophagitis ‘Prolapse gastropathy’ Portal hypertension Drug-induced ulcers Gastritis Mallory–Weiss tear Children and teenagers (7 years to 18 years) Epistaxis Drug-induced gastropathy and acute ulcers Peptic ulcer Oesophagitis Gastritis Portal hypertension . If the source of bleeding is not obvious. The presence of coffee ground fluid in gastric aspirate. Very low Hb. suggests that bleeding has stopped. if epistaxis was ruled out. Endoscopy is the method of choice for diagnosis of the specific causes of acute and chronic GI bleeding related to mucosal and submucosal lesions of GI tract. which support the diagnosis of upper GI bleeding. The results of blood test can give some clues to the nature of bleeding. since the source of haemorrhage can be in the duodenum. Iced saline lavage is no longer recommended because it compromises platelet function at the bleeding site and may induce hypothermia (especially in infants) and subsequent clinically significant arrhythmia.2).58 Gastrointestinal bleeding perineum can reveal fissures. and MCV in haemodynamically stable patients. An elevated blood urea nitrogen (BUN) suggests volume depletion and absorption of the blood proteins in the small intestine. is consistent with chronic GI blood loss. fistulas. Low Hb and Hct with normal mean cell volume (MCV) are typical for recent blood loss. the placement of a nasogastric tube is very useful.
This condition is manifested by recurrent emesis with food. and haemorrhagic disease of the newborn.2). Similar nodules can be found in the colon or duodenum (B). and appearance of brown flecks of denaturated blood at the end of vomiting. Intermittent rectal bleeding with streaks of frank blood mixed with normal appearing stool could be secondary to nodular lymphoid hyperplasia of the colon or terminal ileum. coffee ground emesis or bloody stools in an otherwise healthy and haemodynamically stable neonate are most likely caused by swallowed maternal blood either during delivery or breast-feeding. A B . multiple hemispheric smooth nodules less than 4 mm can be found in clusters or diffusely throughout the GI tract (6. Oesophagitis should be suspected as a cause of bleeding in infants with a history of recurrent emesis and interrupted feeding patterns associated with crying. with recurrent abdominal pain. respiratory failure. midgut volvulus. The spectrum of symptoms includes recurrent vomiting. severe upper GI bleeding can occur in healthy full-term neonates within the first few days of life7. 3–4 mm. In such cases. or hypoglycaemia. In addition to parental reassurance. Feeding with extensively hydrolyzed protein formula is the next step of therapy. It is considered to be an excessive reaction of the GI tract lymphatic tissue (lymphoid follicles and Peyer’s patches) to food-related or other antigens.Gastrointestinal bleeding 59 Age-associated aetiologies Neonates In the first few days of life. The diagnosis is made by careful examination of the anus. The presence of frank blood or clots at the end of recurrent emesis suggests a more serious problem such as a Mallory–Weiss tear. immunodeficiency has to be excluded.1 Nodular lymphoid hyperplasia in an infant with recurrent episodes of rectal bleeding. An anal fissure is another common cause of bleeding in infants. haematemesis. Rare causes of GI bleeding in the first month of life include Hirschsprung enterocolitis. or arching (6. Infants up to 6 months of age One of the leading causes of GI bleeding in infants less than 6 months of age is cow’s milk or soy protein allergy. Occasionally. significant anaemia. The patients may have haematemesis with streaks of blood or guaiac-positive stool. GI bleeding is a common manifestation of necrotizing enterocolitis (NEC). diarrhoea. and diarrhoea with guaiacpositive stools or haematochezia. 6. particularly in breastfeeding neonates. The typical scenario includes sudden onset of haematemesis or melena and signs of haemodynamic instability. persistent rectal bleeding. Bleeding induced by oesophagitis is usually recurrent and not intensive. who did not receive vitamin K. In such cases. Spontaneous regression of lymphoid follicles is quite common. Multiple. the Apt-Downey test should be performed to differentiate between maternal and infant blood. Infants or older children can develop minor bleeding due to prolapse of gastric mucosa into the oesophagus through the gastro-oesophageal junction (prolapse gastropathy) (6. Corticosteroid therapy is restricted to infants with a severe form of this disease. failure to thrive. and failure to thrive. vascular malformation. During endoscopy. an elimination diet for nursing mothers is a reasonable initial treatment. duplication cyst. The patients with repaired oesophageal atresia with or without tracheaoesophageal fistula are at higher risk of severe reflux disease and oesophagitis.1). congenital heart disease. Acute gastric or duodenal ulcers should be suspected in sick premature or full-term asphyxiated or septic newborns or patients with intracerebral bleeding.3). hemispheric nodules are seen in the terminal ileum (A). irritability. raised intracranial pressure. Exclusively breast-fed infants may develop similar symptoms on rare occasions.
4).4 Oesophageal varices: enlarged tortuous veins of the distal oesophagus.5 Gastric varices: multiple varices of the gastric cardia. Intussusception Intussusception. Diagnosis is confirmed by ultrasonography demonstrating positive ‘concentric circles’ or the ‘target-shaped’ sign. Multiple mucosal haemorrhages in the gastric cardia due to recurrent prolapse of the affected area through the diaphragm into the oesophagus. is strongly considered in infants and children with sudden onset of severe cramping abdominal pain intercepted with pain-free episodes and currant jelly stools. The diagnosis is made based on the presence of oesophageal or gastric varices (6. and other stigmata of chronic liver disease such as jaundice. Meckel’s diverticulum Meckel’s diverticulum is the most common congenital anomaly in children. which is common in the first 2 years of life. It is estimated that approximately 2% of infants have a remnant of the omphalomesenteric duct. history of omphalitis secondary to catheterization of umbilical vein. . 6. or barium enema. Oesophageal varices are the most common site of bleeding in children with intrahepatic-sinusoidal and extrahepatic-presinusoidal forms of portal hypertension (6. Hydrostatic reduction of intussusceptions is successful in more than 90% of children.5) or hypertensive gastropathy (6. spider angiomas.2 Oesophagitis: prominent oedema. presence of splenomegaly or hepatosplenomegaly.60 Gastrointestinal bleeding Infants and children less than 7 years of age Portal hypertension The signs and symptoms of portal hypertension are a large volume haematemesis.6) during an upper GI endoscopy. caput medusa. 6.3 Prolapse gastropathy. A lead point is often present in children older than 2 years of age. and ascitis. 6. erythema and erosions in the distal oesophagus. Two-thirds of children with portal hypertension will bleed before 5 years of age. 6.
composed of normal and cystically dilated crypts embedded in an abundant lamina propria. and red. Surveillance colonoscopy is not indicated unless the child develops a new episode of rectal bleeding. followed by signs of haemolytic anaemia and oliguria. 6. Colitis-related symptoms last no longer than a week. The cause of bleeding is peptic ulceration at the junction of the ectopic gastric mucosa and normal ileum. Typical juvenile polyps are smooth. the so-called marginal ulcer. the so-called ‘goose-skin’ sign. with peak incidence from 2 to 5 years of age. Half of them become symptomatic in the first 2 years of life. removal of a solid juvenile polyp is curative. severe abdominal pain with peritoneal signs can occur. Known GI complications of HUS are intussusception. Juvenile polyps Juvenile polyps may occur in as many as 1% of children. painless bleeding with a small amount of blood on formed stool. Juvenile polyps are . Colonoscopy is indicated due to high incidence (almost 50%) of coexisting polyps in the descending and more proximal portions of the colon. Diffuse. Endoscopic polypectomy is the treatment of choice. The bleeding can be massive. which has sensitivity of 85% and specificity of 95%. Diarrhoea and tenesmus can occur when the polyp is large and located in the left colon. This phenomenon explains an intermittent nature of bleeding from Meckel’s diverticulum. The adjacent area is slightly pale and has multiple small grooves.7 A juvenile polyp of sigmoid colon: a small amount of blood is present on the head of the polyp. The predominant location of Meckel’s diverticulum is the distal ileum (40–60 cm above the ileocaecal valve). less than 5% of children will develop complications. There is a general consensus that a single juvenile polyp is not a premalignant condition. The small or large bowel perforation may occur during peritoneal dialysis. Ectopic tissue is present in up to 80% of symptomatic patients. pancreatitis. Tenesmus is common. Polyps less than 1 cm are usually sessile (6. including GI bleeding. polyps larger than 1 cm have short or long stalks. However. Escherichia coli 0157:H7 can be isolated. The cause of bloody diarrhoea in HUS is haemorrhagic colitis due to endothelial damage produced by verotoxin and chiga toxin and submucosal haemorrhages.6 Hypertensive gastropathy: oedematous gastric mucosa with focal erythema and multiple small mucosal haemorrhages. which is present in three-quarters of children with epidemic HUS.Gastrointestinal bleeding 61 6. In two-thirds of these children. Therefore. Haemolytic uraemic syndrome Haemolytic uraemic syndrome (HUS) should be always suspected in infants and toddlers with bloody diarrhoea. The diagnostic procedure of choice is a 99mTc pertechnetate scan. but sometimes coincides with recurrent abdominal pain. The common clinical presentation is recurrent. and intestinal obstruction.7). but it may cease spontaneously secondary to contraction of the splanchnic vessels in response to hypovolemia. The presence of the so-called a ‘thumb printing’ sign on a barium enema or a CT scan reflects a submucosal haemorrhage of the colon. The gastric mucosa is the most common type of ectopia. rounded. Bleeding is usually painless.
Abdominal pain and haematochezia is self-limited. or an adherent clot.62 Gastrointestinal bleeding 6. Urgent endoscopy is necessary as soon as the patient becomes more stable after fluid resuscitation. The majority of bleeding ulcers are located in the duodenal bulb (6.10). Therefore.9 Helicobacter pylori gastritis: nodular appearance of the antral mucosa is a commom finding in children with HP gastritis.8 Henoch–Schönlein purpura: multiple submucosal haemorrhages and secondary oedema are common findings in the colon. blood spurting from the base of the ulcer. These may be apparent on a small bowel X-ray series or barium enema with coarsening of folds and thumb printing. and haematochezia. The most critical time for rebleeding is the first 3 days following the initial haemostasis. if the bleeding is arterial. The usual clinical presentation is the sudden onset of abdominal discomfort followed by haematemesis or melena. and careful observation in the intensive care unit. The degree of bleeding varies between mild to moderate. However. tenesmus. GI manifestations may precede skin rash. Henoch–Schönlein purpura Henoch–Schönlein purpura (HSP) is most common in children less than 7 years old. Children aged 7 years and older Drug-induced gastritis or acute ulcer should be strongly suspected in children who received treatment with NSAIDs or oral steroids.11) usually . Severe anaemia is uncommon. Colitis is the most common cause of rectal bleeding in older children and teenagers. The incidence of NSAID-related GI bleeding is much higher in patients with Helicobacter pylori (HP) gastritis (6. Haemodynamically stable children without the endoscopic risk factors for recurrent bleeding do not require endoscopic haemostasis and can be managed safely on an outpatient basis. a visible vessel. location of the ulcer on posteroinferior wall of the duodenal bulb. Chronic diarrhoea (lasting 2 weeks or more) is usually associated with chronic inflammatory bowel disease.8). The risk factors for recurrent bleeding are: large ulcer (more than 2 cm). Although peptic ulcer disease is relatively rare in paediatric patients. On rare occasions. At least 80% of bleeding episodes from duodenal ulcers cease spontaneously. eradication of HP infection is recommended before long-term therapy with NSAIDs. especially if this happens after viral illness in winter and early spring and about a week after purpuric-type skin lesions appear on the buttocks or low extremities. These high-risk patients require a second-look endoscopy 24 hours after the index endoscopy. Infectious colitis is more common by far than inflammatory bowel disease.9). The median age is 4 years. it may recur and become life threatening. self-limited disorder manifested by sudden onset of fever. and bloody diarrhoea lasting from 5 to 7 days. HSP should be suspected in children with sudden onset of severe diffuse abdominal pain. Treatment with corticosteroids is controversial. 6. In general. although it may shorten the course of GI symptoms of abdominal pain by 1 or 2 days. bacterial colitis is an acute. The small and/or large bowel has different degree of haemorrhagic lesions (6. Haemorrhage usually originates from the stomach. vomiting. it comprises at least one-third of the cases of upper GI bleeding in school age children. Ulcerative colitis (6.
Blood has to be typed and cross-matched and sent for baseline laboratory assessment including liver enzymes and clotting factors. Rare infectious causes of chronic diarrhoea are Yersinia enterocolitica. oedema. 6. Treatment It is imperative to initiate resuscitation of a haemodynamically unstable patient almost immediately before any diagnostic procedure is considered. Mycobacterium tuberculosis. are essential parts of early diagnosis.12 Crohn’s disease: multiple deep.11 Ulcerative colitis: diffuse erythema. 6. Two large-bore peripheral intravenous lines or a central line should be placed and secured. diarrhoea. with active bleeding. longitudinal ulcers and areas with normal appearing mucosa are typical for Crohn’s disease. Blood transfusion is indicated for patients with persistent orthostatic hypotension after replacement of 15–20% of blood volume with isotonic solution. The definitive diagnosis is based on the results of upper and lower GI endoscopy with multiple biopsies. Diarrhoea is not grossly bloody unless there is bleeding from an anal fistula or left side or diffuse colitis (6. loss of vascular pattern. A high index of suspicion and negative bacterial stool culture results. and opportunistic infections in immunocompromised patients. children with acute haemorrhage and initial Hct of . Clostridium difficile colitis should be ruled out especially in children treated with antibiotics or hospitalized patients. Crohn’s disease has a more indolent onset associated with abdominal pain. Oxygen supplementation and bolus of saline targets tissue oxygenation and restoration of circulation.Gastrointestinal bleeding 63 6. and subsequent haematochezia. nocturnal diarrhoea. including Yersinia species and other rare pathogens. Differentiation between bacterial colitis and the early stage of chronic inflammatory bowel disease is always a challenge. Entamoeba histolytica. poor appetite.10 Duodenal ulcer. presents with insidious onset of diarrhoea. Strongyloides stercoralis. and exudates are seen.12). and weight loss. The volume of isotonic solution should be sufficient to reverse tachycardia and postural hypotension.
2 Lacroix J. Tucci M. 2007. Pediatric Gastrointestinal Disease: Pathophysiology. 5 Gilger MA. Gastrointestinal bleeding in infants and children. Ament M. In: Walker WA.102:933–8. • Bleeding after polypectomy. Devlin HB. Treem WR.38:41–7. Diagnosis and Management. Fresh-frozen plasma is indicated for children with suspected or documented clotting factor deficiency. Further reading Boyle JT. BMJ 2008. Octreotide (a synthetic somatostatin analogue) is effective adjuvant medical therapy for severe bleeding from oesophageal or gastric varices8. Murphy MS. et al. Severe upper gastrointestinal bleeding in healthy full-term neonates. sclerotherapy and endoscopic variceal ligation. Pediatrics 1998. 4th edn. Logan RFA. It is reasonable to wait 6 hours before checking posttransfusion Hct.000/mm3. pp. • Bleeding arteriovenous malformation. It should be given to the child with active haemorrhage and any evidence of chronic liver disease or previously diagnosed portal hypertension. et al. J Pediatr Gastroenterol Nutr 2007. Therapeutic endoscopy for nonvariceal gastrointestinal bleeding. Pediatr Rev 1990. Laberge S. Incidence of and mortality from acute upper gastrointestinal haemorrhage in the United Kingdom. and metal clips. Diagnosis and management of upper gastrointestinal tract bleeding in the pediatric patient. Pediatr Rev 2008. Nadeau D. Fleisher GR. such as children with acute or chronic liver disease.14:4152–5. Platelet transfusion is indicated in rare cases of severe bleeding with estimated blood loss of more than 50% of the patient’s blood volume or children with active haemorrhage and platelet count less than 50. Frequency of upper gastrointestinal bleeding in a pediatric intensive care unit. Packed red cell transfusion is the product of choice for replacement of blood loss.20:35–42.311:222–6. World J Gastroenterol 2008. Practical Pediatric Gastrointestinal Endoscopy.29:39–52. Two different techniques are currently used for haemostasis of variceal bleeding.45:157–71. . Massachusetts. Capsule endoscopy in pediatric patients. Dugas MA. and children with haemorrhagic shock. Blackwell Publishing. et al. • Failed surgical shunting procedure. Octreotide therapy for control of acute gastrointestinal bleeding in children. et al. Kleinman RE.336:1010–15. 4 Teach SJ. Goulet OJ. Early blood transfusion is reasonable for children with active bleeding and known chronic heart or lung diseases. Matched whole blood is preferred for patients with massive bleeding. JPGN 2004. Am J Gastr 1994. • History of bleeding secondary to portal hypertension. • Stigmata of recent bleeding: a nonbleeding visible vessel in the ulcer base and a densely adherent clot. BC Decker. Clinically significant upper gastrointestinal bleeding acquired in a pediatric intensive care unit: a prospective study.64 Gastrointestinal bleeding less than 20%. Ann Emerg Med 1994. Wyllie R. 6 Ament ME. 2004. Endoscopic haemostasis of nonvariceal and variceal bleeding Indications for endoscopic haemostasis of nonvariceal bleeding include: • Active bleeding from the gastric or duodenal ulcer. Indications for endoscopic haemostasis of variceal bleeding include: • Active bleeding from oesophageal or gastric varices. Eliakim R. Upper gastrointestinal bleeding. (eds). 3 Chaibou M. 258–65. Crit Care Med 1992. Management of bloody diarrhea in children in primary care. thermal coagulation.12:107–16. BMJ 1995. Emerick KM. Shamir R. et al. Gershman G. Three methods are routinely used for endoscopic haemostasis of nonvariceal bleeding: injection of vasoconstrictive agent. Monitoring of vital signs is a more accurate way to assess the effect of blood transfusion than monitoring of the Hct soon after transfusion. The initial bolus of 1 µg/kg of intravenous octreotide is followed by continues infusion of octreotide 1 µg/kg/h. 7 Goyal A. Kay MH. The dose can be increased every 6 hours up to 5 µg/kg/h. Whitingon PF.89:613–6. 8 Eroglu Y. Hamilton. Rectal bleeding in the pediatric emergency department. References 1 Rockall TA. Hyams JS.23:1252–8.
and Angel Mazón.1 A protein which acts as an allergen is captured by an antigen-presenting cell (APC). The amino acids can occur in short chains of 6–9 amino acids (called peptides) or long chains of hundreds of amino acids. are now termed intolerance. or may even be lifelong. and this interaction drives the immediate release of mediators (histamine. and the classic intolerance to Allergen 7. This interacts with a nonprimed Th0 lymphocyte. under the influence of IL-4 and IL-13.1). MD. It is important to notice the molecular weight to estimate the number of amino acids that can be found in a peptide or a protein. tryptase. Cow’s milk allergy (CMA) constitutes a challenge for paediatricians. depending on the target organ. synthesizes specific IgE against the allergen. derives into a Th2 type lymphocyte. who must be aware of the condition. PhD. The nontoxic reactions. Upon a subsequent contact of the allergen. MD Introduction Allergy to cow’s milk (CM) proteins appears mainly in infants and persists for several months or years. CM proteins is now termed non-IgE-mediated allergy (7. The mediators cause the different symptoms of allergic reactions. Allergic reactions to CM are frequent (1–2% of infants)1–4. The basic units of proteins are amino acids.Chapter 7 65 Cow’s milk allergy Antonio Nieto. Th0 APC IgE B IL-13 IL-4 Th2 IL-2 IL-4 Mastocyte Release of mediators . This interacts with a B-lymphocyte that. such as presence of interleukin-2 and IL-4. which are not mediated by an immunological mechanism. If an immunological mechanism is involved they are denominated allergic: the classic allergic reactions are termed IgE mediated (7. Adverse reactions to foods The European Academy of Allergy and Clinical Immunology divides adverse reactions to foods into toxic and nontoxic. which under certain conditions. Proteins are the agents that cause allergic reactions. this binds to two molecules of IgE. and know how to initiate diagnostic and therapeutic approaches. leukotrienes).2). such as mastocytes. The IgE binds to the high affinity IgE receptors on the surface of cells. The primary structure of proteins is a chain of amino acids bound to each other through their acid (-COOH) and amino (-NH2) terminals. The molecular weight of amino acids ranges from 89 to 204 Da.
1 Cow’s milk proteins Casein Caseins* α-lactoalbumin* β-lactoglobulin* Seroalbumin Lactoferrin IgG1 IgG2 IgM IgA 21 kD 15 kD 36 kD 68 kD 87 kD 160 kD 160 kD 900 kD 400 kD Histamine triptase APC Th0 IgG Eos IL-12 IFN-γ Bas ECP Neu MPO Whey Th1 7. and diarrhoea. gastro-oesophageal reflux. abdominal pain or cramps. The most severe disorder is anaphylaxis. or mixed responses with the involvement of both cells and immunoglobulins. Some infants with CMA have isolated haematochezia and are otherwise healthy. any content in human milk comes from the dietary intake. The classical symptoms appear immediately after ingestion or contact with the allergen. diarrhoea of variable severity. Pathogenic mechanisms not mediated by IgE may be involved. There is no definite known intermediary pathogenic mechanism: probably cell-mediated responses are involved. Depending on the affected portion it causes dysphagia.2 Non-IgE immune responses to foods. A few drops of formula contain as much lactoglobulin as 100 litres of human milk. Thus. Group C includes diseases in which no IgE mechanism is identified. A regular infant formula contains about 300 mg of β-lactoglobulin per 100 ml. nausea. They can show as urticaria-angioedema involving skin and mucosa. Some patients have an IgE sensitization. Group B includes patients who often have a sensitization to foods.42 µg%. vomiting. abdominal pains or cramps. other patients who are also sensitized have no clinical response to diet. They have a good clinical response to the . These responses are mainly elicited by proteins of large molecular weight. and rhinoconjunctivitis. and which comprise around 200 amino acids.66 Cow’s milk allergy Milk Th2 IL-4 IL-13 B IgE Mast cell Table 7. occult or overt blood in stools. and the course remains irrespective of diet. Human milk contains around 0. the number of different proteins is greater as are their molecular weights (Table 7. but takes several hours or even days to be evident. whatever the source. Other *Synthesized in the mammary gland Clinical picture Group A comprises signs and symptoms associated with a demonstrated IgE sensitization to foods. Nevertheless. The human breast does not synthesize β-lactoglobulin. These few drops contain as much lactoglobulin as the amount present in human milk that a lactating mother gives in 3 or more months. The interval between exposure and symptoms is longer than for IgE responses. There are several casein proteins.1). and reappear when the patient is challenged with it. In cases of a complete or partial response to avoiding and challenging. but not by small molecular weight proteins or peptides. digestive symptoms such as vomiting. These symptoms disappear when the offending food is withdrawn. No wonder that a child who is sensitized to CM but has no symptoms while being breast-fed develops overt severe symptoms the first time that he is given a bottle of formula. and they need a relatively large amount of protein. Although the absolute amount of whey proteins is lower. The group B includes mainly atopic dermatitis. and respond to avoiding/challenging with the food in the same way that group A does. difficult breathing. it is usually not immediate. Eosinophilic infiltration of one or several portions of the digestive tract can appear in children with CMA: it is diagnosed by the eosinophilic count in biopsy samples. A patient can be sensitized to only one or more than one protein. or respiratory symptoms including wheezing. whose molecular weight is around 21 kD.
More caution must be taken for those with positive IgE tests. especially hen’s eggs. This is often required for investigational studies. Table 7. Sensitization to other allergens must be assessed: it is not surprising to find out that the patient is sensitized to other allergens. Thus. taking into account the clinical history. the initial approach is based on a good clinical history (Table 7. but in the routine clinical practice an open challenge is acceptable (Table 7.Cow’s milk allergy 67 elimination of the offending food. and the protocol can be performed more rapidly. but their usefulness is very limited. As some patients have discordant responses in the tests. The test is easily interpreted as positive when immediately evident typical reactions appear.71 Tests with other allergens Table 7.3). performing both gives the best yield.63 Specificity 0. The allergologic tests try to identify if there is specific IgE against CM proteins5.2). However. Both tests have a good specificity but a more modest sensitivity (Table 7. The positivity of any of the tests proves that there is a sensitization to CM. The protocol must be adapted to every child. but even so some patients will be misclassified as non-IgE responders.4). and results of tests (Table 7. This is accomplished with the use of skin prick tests. The gold standard for the diagnosis of food allergy is the double-blind placebo-controlled challenge test. and the quantification of specific IgE in serum. The three first issues may orientate the physician towards a higher or lower probability of allergy.83 Positive likelihood ratio 3. repeated challenges are sometimes needed until a clear interpretation can be reached. The positive response to the challenge test permits a diagnosis of allergy.4 Allergologic evaluation: double blind placebo controlled challenge test Open challenge test acceptable in infants Perform if: • Adequate clinical condition • No symptoms • Symptom-free interval • Under strict medical control • No anaphylactic reactions without symptoms.2 Clinical history • • • • • Antecedents of allergy Feeding: breast/mixed/formula Age at onset of symptoms Chronology and type of symptoms Amount of milk which causes symptoms Table 7.12 Serum specific IgE Sensitivity 0. When diarrhoea is present.5). All the symptoms are very common and they are not always caused by CMA. It is important to try to identify if the patient has an IgE or non-IgE reaction. between these extremes are found a range of responses that are difficult to interpret.3). . malabsorption can appear and lead to failure to thrive or to specific nutritional deficits. Indications for an allergologic work-up would be those in whom the clinical history is suggestive of CMA. The two last issues are much more informative about the suspect mechanism of reaction. but it cannot identify which mechanism is involved. and easily interpreted as negative when there is a long follow-up time Prick tests (>3 mm diameter) Sensitivity 70% Specificity 83% Positive likelihood ratio 4. The allergologic evaluation is complete when IgE tests and the challenge are performed (7. the relationship of sensitization with clinical symptoms must be clarified through the interpretation of the clinical history or performing challenge tests. Several days must elapse until a negative response can be ascertained. while those with negative tests usually tolerate greater amounts.3 Allergologic evaluation Diagnostic approach When first facing a child with a clinical picture suspicious of CMA. previous reactions. The most frequent disorder in group C is what was formerly called intolerance to CM proteins.
but not the mechanism Suspect symptoms Allergy tests Prick/serum IgE + – Challenge Challenge + – + – IgE mediated CM allergy Asymptomatic sensitization Non-IgE mediated CM allergy Current tolerance 7. able to bind . Enzymes are able to break the bonds between the amino and the acid terminals of amino acids and split the proteins into smaller fragments. Treatment Treatment is based on a diet free of CM proteins. Ultrafiltration is directed at eliminating enzymatic products used in the process of hydrolysis and also eliminating peptides of large molecular weight. 7. The two approaches are based on the modification of native CM proteins and on the use of proteins of another. Breastfeeding must be encouraged. not related to CM. These resulting fragments.3 Algorithm of the allergologic evaluation. When proteins are heated. The chemical bonds are ‘broken’ and the protein is unfolded. This separates the portions which form the conformational epitopes. an alternative feeding regimen must be chosen. can hold one to several dozen amino acids.68 Cow’s milk allergy Table 7. their tertiary structure is damaged. there is no risk of nutritional deficits. If breastfeeding is not possible. depending on their size. The breakage of the protein can result in fragments that keep whole undamaged epitopes.5 Allergologic evaluation: challenge test and interpretation Challenge test • Increasing amounts (from 1 drop) • 15–30 minute intervals • Assess clinical response • May take several days Interpretation • Subjective criteria • Difficult in delayed responses • May have to be repeated • Identifies allergy. which lose their allergenic ability. able to bind to the specific IgE. except for calcium. source6. The action of heat and hydrolysis pretends to suppress or lower the allergenicity of proteins through changes in their structure. If the mother has a varied diet. and are unable to bind the specific IgE. A fragment can be large enough to keep two or more epitopes. To modify the CM proteins three steps are commonly used. The lactating mother has to avoid CM proteins.
and also the lower price. proteins undergo a high degree hydrolysis. We would recommend the following treatment algorithm for children with CMA (7. In those cases who do not respond well to the first choice.4). Soy formulas have modified carbohydrates and lipids. The regular formula used for feeding healthy infants is infant formula (IF).7 Types of formulas classified according to their constituents Carbohydrate Lipid Protein Cow Whole Hydrolisis Low grade High grade PH EH Soy/pork Hydrolisis High grade AA Hydrolisis Total Soy Whole With lactose LCT MCT LCT MCT IF Without lactose LF SE SE EF Soy . some requirements must be met and others are advisable. the diagnosis should be reconsidered: the second choice should be EH formula for IgE-mediated and soy formula for non-IgE-mediated allergy.500 Da 3. All peptides must have a molecular weight under 5. When these proteins undergo a low degree hydrolysis a partially hydrolyzed (PH) formula is obtained. The first choice for IgE-mediated allergy to CM seems to be soy formula. The maximal admitted weight of the peptides is 5 kD.000 Da. the ability to bind IgE is nil. and for those with non-IgE-mediated allergy would be extensively hydrolyzed (EH) formula. substituted by amino Table 7.000 Da 1. and is more probable when the molecular weight of the fragments is larger8. the lower the probability of residual allergenicity (Table 7. In extensively hydrolyzed (EH) formulas. with disappearance of symptoms. In elemental formulas.Cow’s milk allergy 69 simultaneously to molecules of IgE and trigger the allergic reaction.6). no change in proteins is required. Semielemental (SE) formulas have extensively hydrolyzed proteins and also a modification in carbohydrates and lipids. but if the distribution of molecular weight is provided the chances that residual allergenicity is present can be estimated: the higher the percentage of very small peptides. If there is a lack of response to this second choice. usually within 24–48 hours. also known as hypoallergenic formulas.000 Da 5. The elemental formulas (EF) have modified carbohydrates and lipids and no proteins or peptides. an elemental formula should be used. Table 7. and the formula must have been tested and prove to have negative results in >90% of children with CMA. and the proteins are purified soy proteins.7 shows the types of milk formulas used for the feeding of infants. When choosing an extensively hydrolyzed formula. The response.000 Da Number of amino acids 4 7 11 22 36 65 88 acids. If lactose intolerance is present a lactose-free formula (LF) should be used. Whenever the patient Table 7. a second choice formula should be tried. so native whole proteins are used. This is called residual allergenicity. classified according to their constituents.6 Molecular weight of small peptides present in hydrolyzed milk formulas Molecular weight 500 Da 1. The first choice for those with IgE-mediated allergy would be soy formula. Some physicians are reluctant to use soy formula in children under 6 months of age.000 Da 9. in which there are no peptides but only amino acids. If there is no such good response in 7 days. must be fast. due to the absence of allergenicity.000 Da 12.
The indication can be guided by IgE tests. does not respond to the selected treatment. but must be decided by the age and the clinical symptoms of the patient. which could lead to specific deficits9–13. Care must be paid to the appearance of new symptoms that could be due to the initial allergy or to allergy to other allergens. an allergologic study and a challenge test might be indicated. specially those with non-IgE allergy. but in the case of non-IgE allergy these tests have no value. In children who have been diagnosed and are being treated for CMA a follow-up is recommended (Table 7. especially if the child does not improve with an elemental formula. The indication of the challenge test can be guided by results of IgE tests. so its indication must be based on clinical grounds. and by the experience of the physician. A physical examination must be performed to rule out signs that could have passed unnoticed.70 Cow’s milk allergy IgE allergy Non-IgE allergy Soy formula EH formula Yes Good response No EH formula Good response No Soy formula Yes Good response No No Good response Yes Yes Elemental formula Reconsider diagnosis No Good response Yes Maintain and follow 7. with challenge tests every 6 months. unnecessary diets. the presence of specific IgE does not always mean that the challenge test must be postponed. in whom persistence of . Most children will outgrow their allergy and reach good tolerance to CM. Some children who have had clear allergic reactions may outgrow their symptoms and have a good tolerance to CM even if specific IgE persists for months or years after achieving tolerance. In IgE-mediated allergy. If the patient has had recent symptoms related to contact or ingestion of CM. as well as an assessment of the current diet and nutritional status to avoid too restrictive. the diagnosis should be reconsidered.8) to check that the symptoms have disappeared.4 Algorithm of treatment in cow’s milk allergy. The prognosis of CMA is globally good. According to an individual’s evolution of symptoms. they could be postponed.
J Pediatr 1998. Lönnerdal B. The usual treatment is avoidance of CM until the patient develops spontaneous tolerance. J Am Diet Assoc 2002. Savilahti E. Arch Dis Child 1999. Pediatr Allergy Immunol 1995. 3 Sanz Ortega J. and high levels of serum specific IgE against CM proteins. An Esp Pediatr 2001. Am J Clin Nutr 2005. J Pediatr 2004. Determination of allergenicity to three cow’s milk hydrolysates and an amino acid-derived formula in children with cow’s milk allergy. Allergol et Immunopathol 1998. Jones IE. Acta Paediatr 1992. Helppilä S. Koletzo S. Dreborg S. Rafferty K. placebo-controlled food challenges. Clin Exp Allergy 2007. Vandenplas Y. Dietary products used in infants for treatment and prevention of food allergy. 6 Host A.37:808–22. Isolauri E. Michavila Gómez A. Pascual C. Juntunen-Backman K. Salo M. et al.18:27–30. et al. et al. et al.54:536–9. et al. Clin Exp Allergy 1996. et al. Korpela R. 8 Caffarelli C.8 Follow-up of allergy to cow’s milk protein Schedule of follow-up visits • 3 months later • 6 months later • At 18 months of age • At 2 years of age • Yearly the allergy is exceptional14. 11 Christie L. 14 Vanto T.6:39–43. et al.8:27–31. Guidelines for the diagnosis and management of cow’s milk protein allergy in infants. Risk factors for the persistence of IgE allergy are high levels of serum total IgE. J Pediatr Gastroenterol Nutr 2007. et al. The efficacy of amino acid-based formulas in relieving the symptons of cow’s milk allrgy: a systematic review. Distinct patterns of cow’s milk allergy in infancy defined by prolonged. et al. and the child then continues having that amount of CM every day. A follow-up study of nutrient intake. until a usual daily dose is reached. Martorell Aragonés A.92:902–8. Meyer R. two stage double-blind. New guidelines for managing cow’s milk allergy in infants. Prevalence of allergic disorders in early childhood. Clin Exp Allergy 2002:32:74–9.132:1004–9. et al. 4 Crespo JF. Beyer K. if symptoms appear. Am J Clin Nutr 2002. The patient is given gradually increasing amounts of CM. Pleban A. References 1 Martín Esteban M. A treatment that is increasingly gaining acceptance is desensitization. Gurbindo C. Chad Z. desensitization is becoming an alternative.26:254–61. 5 Baehler P. Hine J. 12 Black RE.102:1648–51. Sütas Y. J Fam Health Care 2008. 9 Paganus A. Pediatr Allergy Immunol 1997.45:399–404.144:218–22.76:675–80. 7 American Academy of Pediatrics.26:171–94. Frequency of food allergy in a pediatric population from Spain. Elimination diet in cow’s milk allergy: risk for impaired growth in young children. 2 Dean T.106:346–9. Williams SM. Burks AW. Poiesi C.81:518–21.81:80–4. Nieto García A y Grupo de Trabajo para el estudio de la Alergia Alimentaria. and growth in infants with cow milk allergy fed either a soy formula or an extensively hydrolysed whey formula. Niggemann B. Adverse reactions to cow’s milk proteins. Parker JG. Koletzko B. Murch SH. Children who avoid drinking cow milk have low dietary calcium intakes and poor bone health. 10 Isolauri E. Juntunen-Backman K. As some children do not spontaneously reach tolerance. Food allergies in children affect nutrient intake and growth. Arch Dis Child 2007. 13 Seppo L. Bone Calvo J. Diagnosis of food allergy in children: toward a standarization of food challenge. The rationale is based on the fact that very small amounts of CM are not able to trigger symptoms or. they will not be severe and can be treated with no risk for the patient. Burks W. . Many of those who have not reached tolerance by the age of 5 years will have lifelong allergy. Follow-up nutritional status and dietary survey in children with cow’s milk allergy.Cow’s milk allergy 71 Table 7. Estudio de la incidencia de alergia mediada por IgE frente a la proteína de la leche de vaca en el primer año de vida. Hypoallergenic infant formulas. Pediatrics 2000.82:140–5. nutritional status. Prediction of the development of tolerance to milk in children with cow’s milk hypersensivity. Committee on Nutrition. Martorell Aragonés A. et al. Further reading Hill DJ.
Surgical removal may be performed laparoscopically. The focal variety is Choledocal cysts These usually originate in a defective bilio-pancreatic junction in which both ducts are confluent within the pancreas. Hydatic cysts are often scarcely symptomatic in children. where a form of resistance develops forming a cyst that grows slowly. Specific antigenic and blood tests help to confirm the diagnosis. MD. a worm that parasitizes the intestine of the dog. There are several anatomical varieties of choledocal cysts. Treatment consists of albendazol and surgical emptying. Hydatic cysts These are the result of accidental ingestion of scolices of Echinoccocus granulosus. The inside of the cyst contains a white gelatinous membrane lined by a fertile proligerous layer that frees live scolices into the clear hydatic fluid. The surrounding liver parenchyma undergoes an inflammatory and fibrotic reaction (pericystic layer). respectively the liver and the lung. this condition may become symptomatic later on as a painful mass occasionally accompanied by jaundice. allowing the bile and the pancreatic juice to mix and subsequently damage the choledocal wall. They may be focal. Treatment is surgical and consists of the excision of the choledocal duct together with the gallbladder. CT scan and bilio-pancreatic magnetic resonance imaging (MRI) allow preoperative depiction of the anatomy of the cyst. They are detected by abdominal palpation and the diagnosis is confirmed by ultrasound or computed tomography (CT) scan. accompanied by partial resection of the pericystic layer. or diffuse and each one has a different pathologic pattern2.72 Chapter 8 Abdominal masses Juan A. in which the entire extrahepatic-biliary tract is enlarged (8. sterilization and removal of the membrane of the cyst/s. except when they fissure causing anaphylactic reactions. Tovar.1 Choledocal cyst occupying the entire right upper quadrant of the abdomen in a 3-month-old female with palpable mass and mild icterus. If not detected prenatally. PhD Masses of gastrointestinal origin Tumours and cysts of the liver The liver is accessible to palpation when enlarged and therefore masses in the liver are easily detected. . but the most common 8. the cystic and common hepatic duct. Vascular tumours of the liver (haemangioma) These are the most frequent benign liver tumours in the newborn. and of the replacement of the biliary tract by a Roux-en-Y hepaticjejunostomy performed in an open or laparoscopic operation1. is fusiform. She is doing well 14 years after Roux-en-Y hepatic-jejunostomy. they pass the intestinal barrier and are transported by the blood stream to the first or second tissular filters.1). multifocal. When the scolices are ingested by lambs or humans.
Abdominal masses 73 a rapidly involuting congenital haemangioma and. improve over a few months and have their tumours reduced to residual. We adhere to the staging of the Societé Internationale d´Oncologie Pédiatrique (SIOP). Hepatoblastoma Although it is the more frequent malignant liver tumour in children. the most clinically relevant feature of diffuse tumours is their large volume that creates a compartment syndrome and eventually liver failure. only residual vascular areas are visible and the child is healthy. A B C D . Biopsy is sometimes necessary particularly in cases with unusual features. to the lungs and elsewhere. except those in whom heart failure cannot be managed.2 Multifocal liver haemangioma in a baby with hyperdynamic heart failure. often creates cardiovascular compromise due to large intratumoural arteriovenous shunts. Most of these patients. When Mesenchymal hamartomas of the liver These are usually multicystic with solid mesenchymal components and may locate anywhere in the organ. Treatment is based on the awareness of the potential regression and of their responsiveness to corticosteroids and interferon (8.3). Alpha-fetoprotein (AFP) is a useful marker for diagnosis and follow-up. Platelet trapping and consequently coagulation disorders may occur. They are 8. D). hepatoblastoma remains rare. In contrast. through the liver outflow. CT scan and MRI are the cornerstones of pretreatment staging that allows selection of management protocols. asymptomatic except when they enlarge and are detected as liver masses. Treatment is always surgical (8. He was treated with corticosteroids and interferon. liver transplantation is unavoidable. Two years later (C. Surgical removal is seldom indicated and in some rare instances of diffuse tumours. as well as multifocal. there is no risk of recurrence3.2). partially calcified masses. The liver is divided into two lobes by the falciform ligament and both lobes are subdivided in turn into two. Ultrasonography and MRI help to delimitate the extent. Modern imaging allows accurate preoperative assessment that is helped by the near-normal levels of tumoural markers. Most cases manifest as abdominal masses detected upon palpation. MRI without (A) and with (B) gadolinium contrast depicts the huge vascular spaces in both lobes. It grows rapidly and is occasionally multicentric. When removal is complete. It can invade the vessels and also metastasize in the regional lymph nodes or. to yield four segments.
74 Abdominal masses the tumour involves one (Stage 1) or two (Stage 2) of these segments (8.4 Hepatoblastoma (HB) located in the lateral segment of the left liver lobe in a 6-month-old female (SIOP Stage 1). The tumour could be readily removed and the patient is alive and well 14 years later. Complete surgical removal is always necessary for cure and preoperative chemotherapy with platinum derivatives and doxorubicin greatly helps to reduce the original extent of the tumour. .3 A 1-year-old female with a palpable mass in the right hypochondrium and normal liver function and AFP.6).4). segmentectomy or lobectomy are usually required. They are generally seen either in children with metabolic cirrhosis or sporadically in older B A C 8. MRI showed a fluid-filled mass originating between the gallbladder and the falciform ligament (A). liver transplantation may be the only treatment option (8. including Stage 4 cases4. 5. C). Hepatocarcinoma A This is very rare in children. When three segments are involved (Stage 3). Surgical removal could be performed removing the gallbladder and a rim of liver tissue. but respecting the main vascular and biliary conduits (B. More than 80% of these children are cured.5) and when the four segments are affected (Stage 4). more extensive operations are necessary (8. B 8.
often to the lungs.Abdominal masses 75 children and adolescents. in whom liver transplantation for the original disease allows total removal before metastases develop6.6 Stage 4 HB with several nodules on both lobes (A). and responds poorly to chemotherapy.5 Stage 3 HB before (A) and after (B) 4 cycles of platinum and doxorubicin chemotherapy. The tumour is often multicentric and secretes AFP. Diagnosis is confirmed by ultrasonography and sometimes by other imaging procedures. interfering with normal feeds. Leiomyosarcomas. A B 8. Gastric tumours and cysts Gastric tumours and masses Bezoars This condition always involves a psychopathological background. or gastrointestinal stromal tumours (GIST) formed by C-Kit-positive cells (interstitial Cajal cells) may be occasionally observed at this level where they cause ulceration and haemorrhage7. During liver removal for transplantation. The entire gastric lumen and sometimes Duplications of this part of the gastrointestinal tract may produce palpable epigastric masses. . rhabdomyosarcomas. vegetal fibres that produce phytobezoar) or hair (trichobezoar). This tumour has limited surgical possibilities and the prognosis is therefore poor except in patients with metabolic cirrhosis. It metastasizes early. the bilateral. These children swallow either indigestible material (seeds. At that time right trisegmentectomy could be successfully performed. The bezoar has to be surgically removed and the patient should be provided with adequate psychological support. teratomas. After transplantation. The bezoar is palpable as an epigastric mass. inextirpable nature of the tumour could be verified (B). the patient is doing well. A B 8. proximal small bowel are filled with this material.
This form may be accompanied in long-term survivors by progressive liver fibrosis leading to portal hypertension. 10. allow diagnosis. the presence of calcification. This usually entails limited bowel resection. The current results are rapidly improving and a high proportion of these children survive. CT. These lymphangiomas are uni. They may be diagnosed before birth or detected incidentally for other reasons. areas of necrosis and eventually cysts filled with pancreatic juice may appear and occupy the retrogastric space and even extend into the thorax through the diaphragm. Pancreatoblastomas and cystic and solid tumours (Frantz’s tumours) are exceedingly rare. and cysts of the kidney Cystic kidneys Familial polycystic kidneys may appear in an infantile form. particularly in immunosuppressed patients. where the density of gut-associated lymphoid tissue is higher. MRI is the best procedure for imaging and it can depict the nature of the contents. The jejunum is laminated on the surface of the tumour. Secondarily. Occasionally these lymphomas manifest as intussusception or acute abdominal pain suggesting appendicitis. Occasionally these tumours can be enucleated8. Epstein–Barr virus is sometimes an aetiological factor.9). Fine needle aspiration may be a rapid method of histopathologic diagnosis. In the infantile form most patients die early after birth because of renal failure.7 Cystic lymphangioma of the mesentery in a 3-year-old male.76 Abdominal masses Duodenopancreatic tumours Pancreatic cysts The most frequent pancreatic cystic masses are pseudocysts caused by pancreatitis of traumatic or other origins. the enzymes are spilled into the parenchyma causing a severe pancreatitis. The risks of torsion and volvulus justify prompt removal after detection. The jejunal mesentery contains a huge grape of cysts filled with milky lymph. In the abdomen the more frequent location is the mesentery. sometimes within the lumen of the terminal ileum or caecum (8. Limited resection led to cure. tumours.or multiloculated. patients have other symptoms in addition to the mass. ileum. or an adult variety in which the pattern is autosomal dominant (mutation of PKD1 gene in chromosome 16). in most cases the operation serves only for obtaining enough biopsy material. When the child is operated on for one of the above-mentioned acute conditions. They occupy the space between both mesenteric layers and compress the bowel from the antemesenteric border. However. and MRI. B-type tumours located near the ileocaecal valve. autosomal recessive pattern (mutation of PKHD1 gene in 6p). A palpable mass can be detected and diagnosis can be ascertained by increased enzyme levels in blood and fluid and by imaging procedures. and colon Cystic lymphangioma Cystic lymphangiomas originate at the major lymphatic confluences. and the eventual association with venous or arterial components. he/she may benefit from surgical removal of the tumour when it is localized. Ultrasonography (US) depicts the cystic nature and may help to locate them. The mass/masses develop rapidly. The mainstay of treatment is chemotherapy9. Masses of genitourinary origin Malformations. together with bone marrow aspiration and eventually contrast studies. They rarely cause major symptoms except those derived from intermittent torsion or bowel distension. US. When the pancreatic ducts are disrupted by trauma or inflammation. They may be voluminous and are formed by yellowish or milky fluid-filled cysts of various dimensions (8.7). . Lymphoma Most intraabdominal lymphomas are non-Hodgkin. Abdominal lymphoma is a systemic disease and most 8. Multicystic kidneys appear as malformations of one or Tumours of the jejunum.8) but more often in the mesenteric lymph nodes. The kidneys are enlarged and the parenchyma is replaced by multiple small cysts (8.
The widespread nature of the mass is depicted in A. splenic infiltration is obvious.Abdominal masses 77 both organs. The parenchyme is replaced by a grape cluster of fluid-filled cysts. It is A B 8. and do not communicate with the ureter (8. There is associated pathology (reflux. Section of one of the kidneys shows that the renal parenchyme is replaced by multiple honeycomb cysts (B). B-lymphoma located in the terminal ileum of a 7-year-old male. The diseased parenchyma is devoid of normal nephrons and consists of a group of cysts that form a ‘grape cluster’.10). hydronephrosis) in the contralateral kidney.10 Nephrectomy specimen in a case of multicystic kidney. 8.8 Huge Burkitt type. who died of renal failure. The need for removal of these dysplastic masses is controversial11. . The ureter is in apparent continuity with the kidney. In B. Bilateral cases are incompatible with life whereas unilateral ones may be detected upon fetal ultrasonography or palpated during infancy.9 Autopsy of a newborn female with infantile recessive polycystic disease. All organs except the kidneys were removed (A). A B 8.
and MRI depict the mass which grows within the parenchyma displacing the pelvis and calices. Haematuria may appear rarely when the excretory system is invaded. A B 8. It metastasizes to the regional lymph nodes and to the lungs by the haematogenous route (8. whereas in the remaining ones it persists and becomes a palpable mass with or without pain and infection. In all other cases laparoscopic or retroperitoneoscopic removal is an option. Surgical repair consists of resection of the obstructed junction and reduction of the dilated pelvis (8. The results are similarly Hydronephrosis Stenosis of the uretero-pyelic junction leads to a dilated renal pelvis. The ureter is thin and the pelvis dilates progressively. It appears more often in patients with some conditions such as aniridia. but 5% are bilateral. Denys–Drash or Wiedeman Beckwith syndromes. Tumours of the kidney Nephroblastoma or Wilms’ tumour is a malignant neoplasia derived from the original blastema of the kidney. Wilms’ tumour is generally palpated by paediatricians or parents in otherwise healthy children. the dilated pelvis was reduced and the apparently normal uretero-pyelic junction was resected (B). Hydronephrosis is often detected prenatally by ultrasonography. but the crucial test is isotopic excretion scintigraphy (MAG3) with furosemide that provides a functional idea of the retention of urine in the pelvis and allows differentiation between simple dilatation and real obstruction. but the dysplastic organ can be left in place because it tends to decrease in size over time and does not cause symptoms. laminating the renal parenchyma.78 Abdominal masses justified in cases in which the volume is large. The tumour grows rapidly within the parenchyma and may invade the excretory system and/or the vessels. During repair by lumbotomy. US depicts the dilated pelvis. Half these babies undergo regression of the dilatation. Treatment is always surgical but it is usually performed in Europe after reducing the size of the tumour and controlling its eventual extensions with chemotherapy. It is usually unilateral.11). There is a remote risk of malignancy on these dysplastic tissues. In other countries surgery is performed first but although this attitude has the theoretical advantage of allowing better histological staging. . The potential for parenchymal recovery is directly related to the duration and the severity of the obstruction. CT.11 Ultrasonographic aspect of a case of left hydronephrosis in a 3-month-old baby (A). supporting the indication for removal. Some structures recalling glomeruli or tubuli may be found within the mass together with frankly malignant cells and areas of necrosis or haemorrhage. it involves increased risks of tumour rupture or surgical complications.12). pyelography may give some more information. US. hemihypertrophy.
8. Other tumours of the bladder. Ovarian tumours Ovarian cysts are easily diagnosed by fetal ultrasound.12 Patient with right-sided Wilms’ tumour that displaced the aorta.Abdominal masses 79 A B 8. It is grossly identical to Wilms’ tumour except for its purely mesenchymal nature.13 Left mesoblastic nephroma in a newborn. 13. Bladder tumours Genitourinary rhabdomyosarcomas may cause hypogastric masses. Most are the result of follicular stimulation by maternal chorionic gonadotrophins and.13). The tumour was very large and grossly identical to a Wilms’ tumour (A). Removal of the kidney with the tumour is the usual treatment (8. it has a surface that resembles uterine myoma and only rarely metastasizes. they are treated with chemotherapy and/or radiotherapy and they can be removed surgically if limited. This patient had large lung metastasis (B). except when they are twisted and . A B good with both types of protocol12. Mesoblastic nephroma is a benign counterpart of nephroblastoma seen in fetuses or newborns. such as malignant Schwannoma (neurofibrosarcoma). When metastases are present. Upon section. vena cava. and portal axis anteriorly and to the left (A). Nephrectomy started with isolation of the renal vessels (B) prior to ligation and division. may arise in patients with neurofibromatosis.
15) and when they differentiate into extraembryonal tissues they cause yolk sac (endodermal sinus) tumours and choriocarcinomas. Ovarian tumours are more often detected as lower abdominal masses since only 10% are secreting.14). conservation of some ovarian tissue is advocated when possible and safe15. Both may be secretory and cause respectively isosexual and heretosexual precocious puberty. The baby was healthy but the cyst did not change in size during the ensuing 6 weeks and contained dense and cystic areas.80 Abdominal masses 8. A B devitalized. Tumours derived from the sex cords are granulosa-theca cell tumours and Sertoli-Leydig cell tumours. . An increased secretion of hormones with normal gonadotrophins is suggestive of ovarian tumour. 16. 8. they tend to regress. Finally. When germ cells are not differentiated they may cause dysgerminoma.15 Operation for twisted giant ovarian teratoma in a 12year-old female (A) and surgical specimen of dysgerminoma in a 3-year-old female (B).14 Neonatal 6 cm ovarian cyst diagnosed 3 weeks prior to delivery. AFP is increased in malignant teratoma and in yolk sac tumours. Upon removal. it was found to correspond to a twisted ovary with a haemorrhagic follicular cyst. there is a tendency to spontaneous resolution. tumours derived from the epithelial cells are cystadenomas that may be serous or mucinous and are the equivalent of ovarian carcinomas in adult women. The contralateral ovary was normal. The current attitude is to follow them ultrasonographically and to remove them only when they are large or ‘complex’14. Even in cases in which the blood supply is interrupted by torsion (8. The treatment is surgical. When they differentiate into embryonal tissues they cause teratomas (8.
and the nervous plexuses that surround the aorta and its main abdominal branches. The huge mass was attached to the lumbosacral spine (1) and complete removal was possible after dissecting free the right ureter (2) and the iliac artery (3) and vein (4). Stage 3 tumours are usually extended on both sides of the midline and cannot be removed at the first operation (8. Stage 1 tumours are limited to the organ of origin and are completely removed. and detection of increased levels of catecholamines or its metabolites in serum and urine. Chemotherapy is continued after surgery and in Stage 4 megatherapy and bone marrow transplantation are indicated. they are improving in Stage 3 and remain poor in Stage 4. bone marrow. A B 3 2 4 1 . Both Stages 3 and 4 require aggressive chemotherapy before complete removal of the primary is attempted. particularly when they have bone metastases. biopsy is advisable before starting treatment. positive uptake of MIBG by the tumour and its metastases. Most NB retain the secreting properties of the adrenal medulla and take up amine precursors while secreting catecholamines. liver. The results are very good in Stages 1 and 2. Due to the secretion of amines. haemorrhage. For this reason. Stage 2 tumours are extended to regional lymph nodes but are removed as well. Stage 4 are those with distant metastases. These tumours range from the malignant neuroblastoma (NB) in which neuroblasts predominate and sometimes group in pseudo-rosettes. NB develops within the organ of origin. and the benign ganglioneuroma (GN) in which the neural cells are mature neurones embedded into a fibrilar supporting stroma. and metastasizes by the haematogenous route to other structures such as the skin. spreads to the regional lymph nodes. The diagnosis is based upon CT scan and MRI imaging. The cellular and molecular predictors of malignity are tested on tissue samples and therefore. 8. There is another Stage 4s corresponding to metastatic disease that does not involve the bone. The current approach to this particular stage is rather conservative. and calcification. The primary may grow rather rapidly undergoing necrosis. but they involve more often the adrenal medulla.17).16 Pelvic Stage 2 neuroblastoma diagnosed by palpation in a 2-year-old male. or bone. Therapeutic protocols are currently based on postsurgical International Neuroblastoma Staging System (INSS). The prognosis for Stage 4s tumours ranges between those of Stages 2 and 317–19.16). pallor and appear sick and pained. these patients often have symptoms like diarrhoea.Abdominal masses 81 Masses from other retroperitoneal organs Neuroblastoma-ganglioneuroma Tumours of neural crest origin are the second most frequent solid neoplasias in children after brain tumours. hypertension. has no real capsule. bone marrow aspiration. in babies younger than 6 months who have their tumour detected upon palpation of a massive liver enlargement that may eventually threaten survival by creating a compartment syndrome with respiratory and cardiovascular embarrassment (8. the paraspinal sympathetic chains. The primary may or may not be removed and supportive measures are provided to allow for regression of the liver enlargement. They may originate at any point in the wide variety of tissues and organs receiving the migrating neuroblasts from the neural crest. they may be imaged by isotope-tagged meta-iodinebenzyl-guanidine (MIBG) and they can be detected by increased urinary excretion of catecholamine metabolites.
In malignant cases chemotherapy is required before and after surgery. The current results are quite good even in malignant cases20. or on both spaces. She died in spite of the supportive measures taken. After 6 months of age. or calcifications. C). They are rarely retroperitoneal at any point in this body space. They consist of tissues derived from the three blastodermic layers that may adopt an organoid pattern and mix in amazing patterns.17 Stage 4s neonatal neuroblastoma. . The patient had severe abdominal compartment syndrome (A) due to massive liver metastases of a partially cystic right adrenal primary (B. Teratomas are germ cell neoplasias that differentiated towards embryonal tissues. C Adrenal tumours Adrenocortical carcinoma and phaeochromocytoma are very rare neoplasias in children. They are generally located in the midline in the sacrocoxigeal area where they can develop externally. internally. cartilage. These tumours can be cystic and also contain bone.82 Abdominal masses A B 8. Treatment is surgical and may be difficult. At birth they are generally benign although they may have immature areas. a high proportion of them become malignant and may contain areas of yolk sac (endodermal sinus) tumour and secrete AFP that is a useful marker for follow-up. When they have a human-like structure they are considered as a rare form of parasitic twin or ‘fetus in feto’.
46(4):459–64. 15 De Backer A. Attarbaschi A.42(1):74–83. Burrows PE.36(5):693–9.4(3):137–40.19(3):207–10. Adult type vs. Madern GC. Abdominal cystic lymphangioma in children: benign lesions that can have a proliferative course. 12 Neville HL. Alizai NK. Kato Y. Retroperitoneal teratomas in infancy and childhood. and treatment. Guitard J. Eur J Cancer 2005. Amann G. Huang CS. McKeever P. et al. 11 Okada T. 13 Reinhard H. Management of ovarian cyst detected by prenatal ultrasounds. J Pediatr Surg 1996. et al. Alomari A. et al. Eur J Pediatr Surg 1994. Bargy F. Burger D. Guidelines for surgical treatment of hepatoblastoma in the modern era: recommendations from the Childhood Liver Tumour Strategy Group of the International Society of Paediatric Oncology (SIOPEL). Matsunaga T. Wilms’ tumour. Moscovici J. J Pediatr Surg 1996. J Clin Pathol 1997. Yoshida H. Pediatr Blood Cancer 2004. Mesenchymal hamartoma of the liver: a systematic review. Brandt ML. Soliman HA.21(7):536–40. Lewin F. Klin Padiatr 2004. et al.27(3):435–42.37(11):1574–8. Yamataka A. 18 La Quaglia MP. Su W. 9 Wright D.24(4):695–9. 14 Sapin E. prognosis.42(1):62–7. 8 Steyaert H. Hepaticoenterostomy after excision of choledochal cyst in children: a 30-year experience with 180 cases. 5 Otte JB. Beiske K.41(7):1031–6. 10 Mann G. 6 Czauderna P.23(3):167–76. Ovarian germ cell tumours in children: a clinical study of 66 patients. Primary gastric tumours in infancy and childhood. 2 Christison-Lagay ER. childhood hepatocellular carcinoma: are they the same or different lesions? Biology. Urol Clin North Am 2000. 3 Stringer MD. Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry.31(10):1417–21. et al. Pediatr Surg Int 2003. natural history. children. Chu SM. Semler O. Tovar JA. Surgery for ovarian masses in infants. Med Pediatr Oncol 2002. Multicystic dysplastic kidney detected by prenatal ultrasonography: natural history and conservative management. Results of the SIOP 93-01/GPOH trial and study for the treatment of patients with unilateral nonmetastatic Wilms tumour.50(2):128–34. et al. Pediatr Surg Int 2005. et al. et al. Carter R.39(5):519–23. 17 Navarro S. et al. Childhood nonHodgkin lymphomas in the United Kingdom: findings from the UK Children’s Cancer Study Group.31(5):677–80. J Pediatr Surg 2005. Pediatr Hematol Oncol 2006. Liver transplantation for hepatoblastoma: results from the International Society of Pediatric Oncology (SIOP) study SIOPEL-1 and review of the world experience. and adolescents: 102 consecutive patients treated in a 15-year period. Aronson DC. 16 Cass DL. J Pediatr Surg 2004. Overview of National Wilms’ Tumour Study Group results. Costa E. et al. Ritchey ML. Saudi Med J 2003. 19 Castel V.24(5 Suppl):S41. J Clin Oncol 2006. J Pediatr Surg 2007. J Pediatr Surg 2001. The impact of gross total resection on local control and survival in high-risk neuroblastoma. Oosterhuis JW. et al.216(3):132–40. J Pediatr Surg 2002. Aronson DC. Prognostic value of International Neuroblastoma Pathology Classification in localized resectable peripheral neuroblastic tumours: a histopathologic study of localized neuroblastoma European Study Group 94. 7 El Behery MM. et al.Abdominal masses 83 References 1 Miyano T. 20 Luo CC. 4 Czauderna P. Pritchard J. . Hawkins E. Otte JB. The role of surgery in stage IV neuroblastoma. et al. Pediatr Blood Cancer 2006. et al. et al. Kushner BH.01 Trial and Protocol.39(3):412–7.40(11):1681–90. Steiner M. Early and reliable diagnosis of non-Hodgkin lymphoma in childhood and adolescence: contribution of cytomorphology and flow cytometric immunophenotyping.
additional assessment for the causes of cholestasis is recommended. MD. MD. thus urinary tract infections as well as cytomegalovirus (CMV) and toxoplasmosis should be excluded. Zellweger syndrome. Infectious diseases may also cause cholestasis. The role of CMV as the causative factor of cholestasis is still under debate. hypothyroidism. mainly concentrating on indirect hyperbilirubinemia1. Cholestasis is defined as conjugated hyperbilirubinaemia. Prognosis of the disease seems to be better in infants operated on before 90 days of age4. BA leads to cirrhosis and death within the first years of life. For instance. A jaundiced child with liver insufficiency requires immediate hospitalization with prompt diagnosis to find the underlying liver disease. it is the most important surgically correctable cause of cholestatic jaundice in this age group and is the most common indication for liver transplantation in children. Infancy Cholestasis should be diagnosed quickly in infancy as various diseases require immediate therapy. and glycogen storage disease type IV should also be considered in the differential diagnosis of infantile cholestasis (Tables 9. The guidelines emphasise the importance of measuring direct bilirubin in sick infants and in those who are jaundiced at or beyond 3 weeks. account. galactosaemia. Liver disease may present as cholestasis alone. Other causes of cholestasis with pale stools are: Alagille syndrome. Niemann–Pick disease type C. Neonatal haemochromatosis. Numerous aetiologies make diagnosis difficult. If the direct or conjugated bilirubin level is elevated. 9. Ascites. BA is a relatively uncommon disease characterized by a biliary obstruction of unknown origin that presents in the neonatal period2. Prothrombin time can be solely regarded as an indicator of acute liver failure. It is very important to assess stool colour to make a timely diagnosis of biliary atresia (BA). Surgical treatment usually involves an initial attempt to restore bile flow: the Kasai portoenterostomy3 which is performed as soon after diagnosis as possible. FRCPCH Jaundice and cholestasis Jaundice results from the deposition of unconjugated or conjugated bilirubin pigment in the skin and mucous membranes. cholestasis that accompanies liver cirrhosis or severe liver disease with liver insufficiency. Untreated.84 Chapter 9 Liver disorders CHOLESTASIS Piotr Socha. progressive familial intrahepatic cholestasis (PFIC). However.1. bruises and so on can be present which indicate severe liver damage. and tyrosinaemia should be taken into . alpha1-antitrypsin deficiency (α1-ATD). peripheral oedema. The American Academy of Pediatrics has elaborated practical guidelines for the management of hyperbilirubinaemia in newborn infants. MD. as congenital CMV infections may present with liver damage and cholestasis.2). and Anil Dhawan. and cystic fibrosis. Joanna Pawłowska.
Rubeolla. Others. Cytomegaloviral infection.1 Differential diagnosis of cholestatic liver disease of infancy Extrahepatic cholestasis • Biliary atresia • Choledochal cyst • Choledocholithiasis Intrahepatic cholestasis Infectious diseases TORCH (Toxoplasmosis. Herpes) Other viral infections Reo Echo Parvovirus Listeria Sepsis Urinary tract infection Tuberculosis HIV Metabolic diseases α1-antitrypsin deficiency Carbohydrate metabolism disturbances Galactosaemia Fructosaemia Glycogenosis: type IV Amino acid metabolism disturbances Tyrosinaemia Lipid metabolism disturbances Niemann–Pick disease Cholesterol ester storage disease Wolman disease Cystic fibrosis Bile acid metabolism disturbances Peroxisomal disorders Zellweger syndrome Congenital defects of glycosylation Familial cholestatic diseases Idiopathic neonatal hepatitis Progressive familial intrahepatic cholestasis Alagille syndrome Nonsyndromatic paucity of bile ducts Recurrent intrahepatic cholestasis Benign-familiar With lymphatic oedema (Aageneas syndrome) Anatomical changes Caroli disease Multicystic liver and kidney disease Chromosomal diseases Down syndrome Other causes Hypothyroidism Histiocytosis X Necrotizing enterocolitis Parenteral nutrition-associated cholestasis Drug-induced cholestasis Table 9.2 Diagnostic approach to cholestasis of infancy Urgent diagnosis indicated Biliary atresia Galactosaemia Hypothyroidism Tyrosinaemia Neonatal haemochromatosis Zellweger syndrome Infections (sepsis. Toxo) Elective diagnosis performed PFIC Alagille syndrome Cystic fibrosis Choledochal cyst (if not accompanied by cholangitis) α1-ATD Niemann–Pick disease type C Glycogen storage disease type IV . CMV.Liver disorders 85 Table 9. urinary tract infection.
peculiar facies.3. chronic cholestasis. Diagnosis of Alagille syndrome is aided by the presence of syndromic features. deep set eyes. including bile duct paucity on liver histology. PFIC) and postoperative biliary atresia may present with episodes of increased hyperbilirubinaemia or symptoms of liver insufficiency. 9.4). hepatitis A.2 The parent of the child usually presents also with very typical facial appearance. Usually differential diagnosis is performed in early infancy when biliary atresia must be excluded. Butterfly vertebrae observed in late infancy are also a characteristic feature (9. Typical facial features are a prominent forehead.5). Pulmonary artery stenosis is a typical finding which may also cause a serious heart disease (9. Cholangitis episodes in postoperative biliary atresia require rapid diagnosis and treatment. eye findings. pointed chin. and septicaemia seems to be a common reason for referral of a jaundiced child to liver clinics. Liver disease may slowly progress to liver insufficiency and liver transplantation may be needed. Cholecystitis is a rare condition in children and acute clinical symptoms with jaundice and fever are very unusual. and α1-ATD. autoimmune hepatitis. inherited condition. Septic and hypoxic damage to the liver can cause cholestasis. and malnutrition6. renal disease.2) which may indicate the need to diagnose this disease. indirect hyperbilirubinaemia can be the presentation of a benign. but these features are not very typical in early infancy.1). which affects about 6% of the adult population. vertebral abnormalities.6). Choledocholithiasis is also infrequent in childhood. 9. .86 Liver disorders Childhood Jaundice is uncommon in children. Liver biopsy is helpful to establish the diagnosis (9. Several liver diseases may present with jaundice such as infection with hepatitis B. Mutations in hepatic enzyme isoform (1A1) belonging to the urine diphosphoglucuronate glucuronosyltransferase (UGT) family of enzymes are responsible for this condition5. in most of the patients liver disease remains stable for a long time. That is why it is important to follow these patients carefully and the primary care physicians have to be aware of possible exacerbation of symptoms. However. However. Wilson disease. Embryotoxon posterior observed in a slit lamp is one of the most common features of the Alagille syndrome. recurrent cholangitis. Familial cholestatic diseases (Alagille syndrome. Gilbert syndrome can be confirmed by molecular diagnosis but it should be suspected in an otherwise asymptomatic child whose other liver tests are normal and there are no signs of haemolysis. cardiac murmur. 9. and a saddle or straight nose with a bulbous tip (9. Clinical characteristic and laboratory findings Alagille syndrome Alagille syndrome can present with very early cholestasis of infancy but it may also be asymptomatic for a very long time. Liver damage may progress quickly in some patients with portal hypertension. moderate hypertelorism. and xantomas7.1 Typical facial appearance in a child with Alagille syndrome. and hepatitis C virus. Gilbert syndrome. The parents may also have the typical appearance (9.
Liver disorders 87 A B 9. (Courtesy of the Cardiac Catheterization Laboratory. The Children’s Memorial Health Institute. (Courtesy of the Radioimmunology Department.) 9. The Children’s Memorial Health Institute. 9.5 Butterfly vertebrae in Alagille syndrome (arrows). B: Fallot tetralogy and pulmonary artery hypoplasia in a patient with Alagille syndrome (right ventricle angiography in a sitting-up projection of 30°).) .3 A.4 Scintigraphy may show peripheral stenosis of pulmonary arteries with hypoperfusion of the left lung.
arrowhead). skeletal. B: bile duct (arrow) visible in the portal space. bile duct cells.6 A: Presentation of bile duct paucity in Alagille syndrome (vein.7 Pruritus as a presenting symptom of PFIC. (Courtesy of the Pathology Department. arrow. canalicular membrane Canalicular membrane Liver.3 Genetic background of cholestastic diseases PFIC 1 Genetics Autosomal recessive PFIC 2 Autosomal recessive PFIC 3 Autosomal recessive Alagille syndrome Autosomal dominant with highly variable expression JAG 1 Short arm of chromosome 20 Ligand of Notch1 Gene Mutation on chromosome Gene product FIC 1 18q 21-22 BSEP 2q 24 MDR 3 7q 21 P-type ATPase Bile salt pump Phospholipid transporter Canalicular membrane Cell localization Gut. Children’s Memorial Health Institute.88 Liver disorders 9. A B Table 9. heart. eye. kidney . artery.) 9.
9. Liver histology may reveal giant cell transformation.8). A B 9. There are no pathological changes in the liver on biopsy besides some hepatocellular cholestasis. A: Missing bile duct in a portal space (arrow. . This diagnosis should always be suspected in patients with high serum bile acid concentration. The disease may progress to end-stage liver disease. Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is characterized by intermittent episodes of cholestasis without progression to cirrhosis. portal tract).8 Short stature in a 14-year-old girl with PFIC. low/normal or elevated gamma glutamyl transpeptidase (GGT). In between episodes patients are totally asymptomatic both clinically and biochemically. Short stature is a typical feature in later age (9. Treatment is symptomatic. 9.10) when performed early in the course of the disease8.9). and pruritus. anorexia. PFIC also seems to be a risk factor for hepatocellular carcinoma9.7). serum bile acid. In general.3). The onset of the disease usually occurs before the second decade of life. Some experience from centres in the USA and Poland points to a successful therapy with partial external biliary diversion (9. B: enlargement of the portal tract with septal fibrosis (brace). artery. GGT remains low.10 Partial biliary diversion in a child with PFIC. Catch up growth is observed since the procedure was performed. Pruritus is usually the predominant symptom and skin excoriations due to itching may be observed (9. and alkaline phosphatase. diagnosis of PFIC is not very urgent but doctors should be aware of the potential health effects. ductular proliferation.9 Liver histology in PFIC.Liver disorders 89 Progressive familial intrahepatic cholestasis PFIC is an inherited disorder where bile acid excretion is impaired (Table 9. The attacks of cholestasis vary in severity and duration (from 1 to 18 months) and may be preceded by a preicteric phase with malaise. Biochemically it is characterized by increased concentrations of bilirubin. and pruritus. and fibrosis (9. arrowhead.
90 Liver disorders Biliary atresia BA presents with cholestasis in early infancy (1–2 months of age) in an otherwise healthy child. . C: septal fibrosis (arrow).13).13 Histological evaluation of biliary atresia. which may not always be evident. thus diagnosis may be delayed. which is regarded as a typical feature that confirms the diagnosis. Determination of α-1antitrypsin phenotype but not measurement of α-1antitrypsin concentration is the way to make the final diagnosis.11 A child with biliary atresia with moderate jaundice and normal nutritional status (A). E F 9. A: Intracellular cholestasis (arrow). infants with the homozygous Pi ZZ phenotype may temporarily show elevated levels of liver enzymes and cholestasis and A 9. white stools and dark urine as well as hepatomegaly. BA may progress quickly to cirrhosis with ascites (9. D–F: ductal plate malformation (arrows).14) and oesophageal varices as a consequence of portal hypertension. It is recommended that infants with direct hyperbilirubinaemia exceeding 2 mg/dl (34 µmol/l) over 2 weeks of age be referred to liver centres for further work-up to avoid wasting valuable time in making the diagnosis. B: giant cell transformation (arrow). dynamic scintigraphy (HIDA) does not show any bile passage to the gut (9. Alpha-1-antytripsin deficiency α1-ATD is inherited as an autosomal codominant disorder. Usually a complete work-up of cholestatic diseases is performed to confirm the diagnosis and to exclude other liver diseases with early presentation.12 Dynamic scintigraphy of the liver in BA does not show any bile passage to the gut after 24 hours. and liver histology may present ductal plate malformation with bile duct proliferation and fibrosis (9.11).12). and pale stools (B). B A B C D 9. The gall bladder may not be visible on ultrasound in many patients with biliary atresia. During the first year of life. The most common clinical features are: jaundice with conjugated bilirubin beyond 2 weeks of life (9. The most frequent and severe mutation that causes severe α1-ATD arises in the SERPINA1 gene (formerly known as PI) and gives rise to the Z allele.
Galactosaemia is a rare disease usually presenting with prolonged prothrombin time. anteverted nostrils.Liver disorders 91 9. It is important to know that the diagnosis of galactosaemia may lead to a false result if the infant has received a blood transfusion in the preceeding 3 months as the UDPG test does not differentiate between donor or recipient enzyme levels. and narrow upper lip.14 Ascites in a small child with biliary atresia. Patients have characteristic craniofacial abnormalities with wide fontanelle. galactose-containing feedings should be discontinued immediately and replaced by a lactose-free formula pending the results of an appropriate enzyme assay on erythrocytes to confirm the diagnosis. In some cases cirrhosis and portal hypertension has been reported in the first year of life. . a generalized peroxisomal biogenesis disorder which is characterized by a wild spectrum of abnormalities including in the nervous system and kidneys. Neonatal haemochromatosis may also present acutely with liver failure and must be diagnosed very quickly. Other aetiologies of cholestasis Galactosaemia and tyrosinaemia should be diagnosed very quickly. prominent forehead. Other metabolic disorders like Niemann–Pick disease type C or glycogen storage disease type IV do not progress so rapidly and diagnosis is not so urgent. but most developed countries carry out newborn screening. The definitive diagnosis is done by enzymatic testing for galactose-1-phosphate-uridyltransferase activity (UDPG)10. 9. If the diagnosis of galactosaemia is suspected. In a small percentage of patients the disease may progress to liver insufficiency and liver transplantation should be considered.15 Zellweger syndrome (skeletal features). Another neonatal liver disease presenting with typical features and cholestasis is Zellweger’s syndrome (9.15). Determination of succinylacetone in the urine is a helpful diagnostic test for this disorder11. The administration of primary bile acids (cholic acid and chenodeoxycholic acid) may improve liver function. Hereditary tyrosinaemia may also present with jaundice and clotting disturbances. Hepatic involvement includes hepatomegaly and conjugated hyperbilirubinaemia due to abnormal bile acid synthesis. as they can be managed with a special diet and the disease may progress very rapidly. differential diagnosis with BA should be performed.
bile acids. GGT. 9. and cholinesterase).5. Viruses Specific causes of liver disease Viral infections and drug toxicity are the main causes of acute liver disease (Table 9. • Synthetic liver function (albumin. pancreas. alcohol Higher levels in plasma in prematures.9). and Daniel González-Santana. phenytoin. leukocytes and erythrocytes • More unspecific ALT • Cytosolic • Half-life: 18 h • Liver.4).92 Liver disorders HYPERTRANSAMINASAEMIA IN CHILDHOOD Luís Peña-Quintana. When it is higher than 1. The classic presentation with three . MD Introduction Hypertransaminasaemia in childhood is a common finding which requires a staggered study depending on the clinical features and the severity of the disease. prothrombin time. as most coagulation factors are synthesized in the liver. MD. heart. lung. There are also some Hepatotropic virus A. Other patients may present any of the symptoms listed in Table 9. and other viruses (herpesvirus. it may mean that a more severe liver damage is present (Table 9. Patients may be asymptomatic or paucisymptomatic. spleen It only increases in liver disease Greater in cholestasis and toxic hepatitis It is stimulated by: phenobarbital. GGT and alkaline phosphatase increase if there is an obstruction or a damage in hepatic canaliculae (Tables 9. Epstein–Barr virus (EBV). GGT. cytomegalovirus (CMV). Prothrombin time is an excellent marker of liver synthetic function. Aminotransferases represent the integrity of liver cells. AST/GOT. Table 9. nonhepatic disorders causing acute or chronic elevation of transaminases (e. Investigation of the liver function relies on four major signs. The quotient AST/ALT is normally less than 1. brain. An underlying liver disease can be discovered due to hypertransaminasaemia found in an ordinary blood test. kidney.g.4 Characteristics of aminotransferases (normal levels ≤40 U/l) AST • Mitochondrial and cytosolic • Half-life: 48 h • Liver. cholesterol. and LDH). newborns. muscle.5 Characteristics of GGT • • • • • • • Synthesized by hepatocytes and bile duct epitelium Cytolysis and cholestasis enzyme Location: kidney. E.8). C. • Cholestasis (alkaline phosphatase. pancreas.7. Prolonged prothrombin time is a sign of an important hepatocellular dysfunction. brain. and 5´ nucleotidase). parvovirus) may produce acute hepatitis. • Chronicity (immunoglobulin G and other immunoglobulins). and probably G. Prothrombin time is a measure of the extrinsic and common pathway of coagulation. while the list of causes of chronic disease is broader (Table 9. B. rotavirus infection or coeliac disease). adenovirus. in order to obtain a correct diagnosis12. heart. Most patients are asymptomatic. Minimal amounts in other tissues (mainly in muscles) • AST/ALT ≤1 • More specific Released into plasma during hepatocyte necrosis Table 9. markers of: • Cytolysis (ALT/GPT. and babies younger than 2 months of age Symptomatology Patients with a liver disease do not present any specific symptom. D. direct bilirubin.6).
Budd–Chiari) Cholangitis Wilson’s disease Autoimmune hepatitis Other rare infectious agents • • • • • • • • • Viral chronic liver disease Wilson’s disease α-1-antitrypsin deficiency Autoimmune hepatitis Drug/alcohol-induced hepatitis Nonalcoholic fatty liver disease Haemochromatosis Porphyrias Cystic fibrosis phases (preicteric.3. and it is often casually discovered by elevation of transaminases. kidney and small intestine • If there is no GGT rise. D. Only hepatitis due to B. and posticteric or convalescent phase) is less frequent. E and G viruses can lead to chronic liver disease. Most patients remain asymptomatic.6 Characteristics of LDH and alkaline phosphatase Table 9. B. Some patients may present prolonged abnormal liver function tests or fulminant liver failure. sepsis. penicillins Alcohol • • • • • • • • • • • • • Phenobarbital Haloperidol Valproate Paracetamol Acetylsalicylic acid Ketoconazole Isoniazid Methyldopa Sulphonamide NSAIDs Verapamil Pemoline Retinoids .10 Hepatotoxic drugs Toxic hepatitis Toxic hepatitis is less frequent in children than in adults (Table 9. C. Wilson’s disease Wilson´s disease (WD) is an autosomic recessive genetic disorder14 affecting gene ATP7B in chromosome 13q14. C. there are unspecific symptoms or cholestasis13.Liver disorders 93 Table 9. EBV Drug-induced hepatitis.9 Causes of chronic liver disease • • • • • • • • Viral hepatitis by A. G virus Viral hepatitis by CMV.7 Symptomatology LDH • ↑ in hepatic and extrahepatic damage • Less specific • Fraction 5: more liver specific Alkaline phosphatase • Synthesis in bile canaliculi membranes • Bone. D. hepatopathy is not probable Symptoms • Astenia • Anorexia • Abdominal pain • Jaundice • Choluria • Acholia • Pruritus • ↑Abdominal perimeter • Haematomas • Peripheral oedema Signs • Hepatomegaly: – Firm: congestive – Nodular: cirrhosis – Rounded and painful: acute hepatitis Table 9.10). icteric. hypotension. In other cases. alcohol Ischaemic hepatitis (heart failure. There is no specific test to diagnose toxic hepatitis. E.8 Causes of acute liver disease Table 9. It codes for transmembrane copper transporter in hepatocytes and for excretion into the bile canaliculus as • • • • • • • • • • • • • Amiodarone Anti-neoplastic drugs Azatioprine Carbamazepine Cocaine Ciclosporin Ecstasy Erythromycin Strogens Halothane Methotrexato Minocycline. Table 9.
9.16 Liver biopsy in a patient with autoimmune hepatitis. Piecemeal necrosis.
9.17 Liver biopsy in a patient with autoimmune hepatitis. Central–portal bridging necrosis.
well as for joining copper to coeruloplasmin. As a result, there is an abnormal accumulation of copper in liver, brain, kidney, and other organs, mitochondrial damage, and low levels of bile copper and coeruloplasmin. Prevalence in Europe is 1/30,000, with 1/100 heterozygous. In the Canary Islands, the incidence is 1/2,60015. It may present as asymptomatic hypertransaminasaemia or as chronic hepatitis, cirrhosis, or acute liver failure in childhood. In older children and adults, extrapyramidal neurological symptoms (dysarthria, dystonia, ataxia, tremor, dysphagia), psychiatric manifestations, Kayser–Fleischer ring (due to copper deposits in the Descemet corneal membrane, very specific but not pathognomonic of WD), and renal tubulopathies (with aminoaciduria and phosphaturia) are more frequent16. It is typical to find low plasma coeruloplasmin, although in 5–10% of patients it may be normal (>20 mg/dl), and decreased serum copper levels. A raised urine copper after penicillamine (higher than 100 µg/day) and an elevated liver copper concentration (higher than 250 µg/g of dry liver tissue) are helpful in diagnosis. Liver biopsy shows the stage of the disease. Genetic tests (>150 mutations) may help.
such as anti-soluble liver antigen, anti-liver cytosol, antiliver–pancreas antigen, or anti-asialoglycoprotein receptor. Anti-actine and antineutrophil cytoplasmic autoantibodies may also be useful in the diagnosis. Patients may present with acute hepatitis or as chronic hepatitis with insidious symptomatology. In other cases, it is an incidental finding. The increase in transaminases has no relationship with the degree of hepatic necrosis. Polyclonal hypergammaglobulinaemia (IgG) is often found (2–6 g/l). If the levels of IgG are low it is a sign of good response to therapy. Although the detection of autoantibodies is very useful for diagnosis, they are not specific. Therefore, autoimmune hepatitis is not excluded in the presence of low serum autoantibody titres. Liver biopsy is fundamental for diagnosis, and the findings vary from hepatitis with moderate or severe activity to cirrhosis, which is present in almost 50% of the children at diagnosis (piecemeal necrosis (9.16), lobular hepatitis [not constant], central–portal bridging necrosis) (9.17).
Alpha-1-antitrypsin deficiency (α1-ATD)
In this autosomal recessive disease there is a chromosome 14 mutation18 that leads to the production of abnormal and hepatotoxic α1-AT that is retained in the endoplasmic reticulum (9.18). Frequency is 1:2000 newborns. α1-AT glycoprotein may present as 100 variants, with codominant inheritance, which are classified according to the protease inhibitor (Pi) phenotype system based on their electrophoretic moiety: Pi MM variant (with normal serum concentration and normal activity), Pi null-null variant (absence of α1-AT associated with lung disease), defective
Autoimmune hepatitis (AIH) is a chronic inflammatory disorder affecting the liver, with unknown aetiology. It may cause severe progressive liver disease and, eventually, lead to cirrhosis and liver failure. It is classified in three types17: Type 1, with positive anti-nuclear and/or anti-smooth muscle antibodies; Type 2, with positive anti-liver–kidney microsomal antibodies; and Type 3, with other antibodies,
Liver disorders 95
9.18 Liver biopsy in a patient with alpha-1-antitrypsin deficiency.
9.19 Diagnosis of alpha-1-antitrypsin deficiency is based on a decrease in the α1 band (arrow) (readout from electrophoretic gel).
variants (such as Pi Z and Pi S, with low serum concentration and lung and liver disease). MM phenotype is found in healthy individuals; ZZ phenotype causes the most severe deficiency and it represents 95% of patients. SZ phenotype may cause liver disease (neonatal cholestasis, mild dysfunction, chronic hepatitis, liver failure, cirrhosis, hepatocellular carcinoma), while MS/MZ phenotypes do not produce liver disease in children but do in adults. Diagnosis is based on a decrease in the α1 band (electrophoretic gel) (9.19), a decrease in α1-AT in blood and Pi phenotype. On the liver biopsy, an abnormal accumulation of α1-AT in liver is present.
Microvesicular accumulation of fat in hepatocytes (>5%) without excessive aclcohol consumption
The main cause of chronic liver disease in pre-adolescents and adolescents
Nonalcoholic fatty liver disease
Nonalcoholic fatty liver disease (NAFLD) includes simple fatty liver (steatosis), nonalcoholic steatohepatitis (NASH) and cirrhosis19 (9.20). Most patients with NAFLD present with obesity, mainly central adiposity20, as part of the metabolic syndrome21 (9.21). The pathology of the NAFLD in children includes: Type 1, characterized by steatosis, hepatocyte balloonization, and perisinusoidal fibrosis (similar to NAFLD in adults and more frequent in white children in both sexes), and Type 2 (infantile), characterized by steatosis, portal inflammation, and portal fibrosis (9.22) (more common in male and children of Asian, Native American, and Hispanic ethnicity)22. Clinical experience in children with NAFLD is limited. NAFLD in childhood and adolescence used to occur in the male obese patient, with AST>ALT (when hypertransaminasaemia is present), hypertriglyceridaemia,
9.20 Nonalcoholic fatty liver disease.
acanthosis nigricans (9.23), and absence of symptoms (when the disease has been diagnosed by screening tests and/or abdominal ultrasonography). Although most patients remain asymptomatic, other individuals may present with a variety of symptoms: hypertension, dyslipidaemia, insulin resistance, type 2 diabetes, and central obesity23.
9.21 Fenotypic appearence of an adolescent with nonalcoholic fatty liver disease.
9.22 Type 2 (infantile) nonalcoholic fatty liver disease, characterized by steatosis, portal inflammation, and portal fibrosis.
9.23 Acanthosis nigricans.
9.24 Ultrasonography showing increased ecogenicity due to fat infiltration.
simple esteatosis and NASH is liver biopsy (Table 9.11)26. It confirms diagnosis, assesses esteatosis severity, and serves as a prognostic marker. Patients with simple esteatosis have a benign course without histological progression, but patients with NAFLD may progress to cirrhosis or hepatocarcinoma (described just in adults)27.
Transaminases can be normal or mildly elevated, persistently or intermittently (usually AST/ALT <1). In 25% of cases, patients show an increase in GGT24, 25. Imaging techniques such as ultrasonography (9.24), computed tomography, and nuclear magnetic resonance imaging do not distinguish between simple esteatosis and NASH. The gold standard test to distinguish between
Practical issues in a patient with increased transaminases
In the differential diagnosis of hypertransaminasaemia, coeliac disease should be considered, even when there are no other symptoms28. The baseline investigations may be found in Table 9.12. If these are not enough to lead to the
DNA HBV • Serology: CMV. citosol.Liver disorders 97 Table 9. J Pediatr Surg 1968. Budd–Chiari) (9. 5 Kaplan M. et al.12 Investigations to be performed in patients with increased transaminases Transaminases < twice normal: repeat probable normalization Baseline • Coagulation test • Iron. Hammerman C. Maisels MJ. for the prognosis based on inflammation intensity (grade) and fibrosis (stadium). the inversion of the quotient AST/ALT (>1). Surgical treatment of biliary atresia.11 Histopathological findings in nonalcoholic liver disease 9. Hepatology 1984. transferrin • Immunoglobulins • Electrophoretic gel • Copper and coeruloplasmin Second line • CK. In chronic hepatitis. 4 Altman RP. Lilly JR. 2 Alagille D. sepsis. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. These are signs of submassive liver necrosis and consequent hepatocellular failure. • The most frequent causes of gross elevation in transaminases in acute hypertransaminasaemia (AST/ALT >1000) are: viral hepatitis. for histological diagnosis. suspicion of underlying chronic disease. In acute hepatitis. Pediatrics 2003. • In chronic hepatitis. AMA) • α-1-antitrypsin levels and phenotype Pi • IgA-antigliadin. indicates a deeper damage (mitochondrial) and evolution to fibrosis-cirrhosis. herpesvirus • Autoimmunity (ANA. without liver damage). et al. and ischaemic hepatitis (heart failure.114:297–316. EBV. second-line investigations should be performed29.226:348–55.111:886–93. Steatosis Inflammation Balloonization Fibrosis Cirrhosis Children Marked >Portal Rare >Portal Rare Adults <Marked Lobular Frequent Lobular >Frequent diagnosis. Asakura Y. Extrahepatic biliary atresia. Bilirubin genetics for the nongeneticist: hereditary defects of neonatal bilirubin conjugation. ferritin. ASMA. hypotension.25). Ann Surg 1997. liver biopsy should be indicated if there is unknown aetiology. or cholestasis associated with acute cytolysis30. • The degree of transaminases elevation does not correlate with prognosis.antitransglutaminase • T3-T4-TSH Liver biopsy References 1 American Academy of Pediatrics. A multivariable risk factor analysis of the portoenterostomy (Kasai) procedure for biliary atresia: twenty-five years of experience from two centers. IgA. Some practical considerations are: • ↑ AST isolated: macrotransaminasaemia (AST–immunoglobulin complex. aldolase • RNA HCV.4:7S–10S. liver biopsy is essential and is indicated to investigate the aetiology. Kimura S. Greenfeld J. prolonged hepatitis or several relapses. drug and alcoholinduced hepatitis.3:665–75. . Pediatrics 2004. Table 9.25 Evolution to cirrhosis in a child with a severe congenital heart disease. • Liver transplantation is indicated if there is reduced transaminases with increased bilirrubin and decreased prothrombin time. Grade III/IV encephalopathy and/or factor V <25% are clear indications for liver transplantation. 3 Kasai M. and to evaluate anti-viral therapy response. LKM.
Relationship of hepatic steatosis to adipose tissue distribution in pediatric nonalcoholic fatty liver disease. Balistreri W (eds). Colino E. Ament ME.2:107–12. Obesity and nonalcoholic fatty liver disease. Clarkson A. Swain M. et al. Tracy LR. 7 Emerick KM. Current management of biliary atresia. Hepatology 2005. Liver Int 2003.42:641–9. A practice guideline on Wilson disease. Behling C. 27 Molleston JP.162:S50–S53. 3rd edn.342:1266–71. Rand EB. 12 Suchy FJ.29:431–37. Tanner MS. Meier Y. Eur J Pediatr 2003. Evaluation of abnormal liverenzyme results in asymptomatic patients. Harb R. Variable morbidity in Alagille syndrome: a review of 43 cases. Spain): a genetic and clinical study. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. et al. A practical approach to neonatla jaundice. Hepatology 2002. New York. Bianchi G. et al. Moerschel SK. Cambridge University Press. Schilsky ML.95:130–36. 11 Burton BK. Shaw SH. 20 Fishbein MH. Choonara I. Hepatology 1999. Montedeoca N. 13 Impicciatore P. Kelly DA.19(3):16. Am J Gastroenterol 2002. Mogren C. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. 18 Primhak RA. Sirlin C.23:139–42.36:479–97. Gleason T. Daniels S. 22 Schwimmer JB.50:1844–50. et al. Diabetes 2001. 21 Marchesini G. 30 Kelly DA. Pediatr Rev 2007. Freese D.36:54–61. et al. 19 Patton HM. 29 Pratt DS. Diagnosis and treatment of autoimmune hepatitis. J Pediatr Gastroenterol Nutr 1999.5:27–42. Thomas DW. Obesity Reviews 2004. Hereditary alpha-1-antitrypsine deficiency and its clinical consequences.85:2–5. Blackwell Science. Loudianos G. Caca K. The spectrum of fatty liver in obese children and the relation-ship of serum aminotransferases to severity of steatosis. Stolk J. Pediatric nonalcoholic fatty liver disease: a critical appraisal of current data and implications for future research. Behling C.98 Liver disorders 6 Quiros-Tejera R. 9 Knisely AS. Obese children with steatohepatitis can develop cirrhosis in childhood.52:77–83.92:1132–5. et al.15:539–43. Hepatocellular carcinoma in 10 children under 5 years of age with bile salt export pump deficiency. Am Fam Physician 2008. Miner M. Nonalcoholic fatty liver disease: a feature of the metabolic syndrome.28:83–91. J Pediatr Gastroenterol Nutr 2006. Heyman MB. et al. Sacco T. et al.32:1329–36. Thava VR. Scott BB. Liver abnormalities in celiac disease.40:686–7. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands. 2003. Hepatology 2000. Incidence of adverse drug reactions in paediatric in/out-patients: a systematic review and meta-analysis of prospective studies. Oxford.42:83–8.44:478–86. Hepatology 2003. 2nd edn. Gastroenterology 1988. Hepatic steatosis in obese patients: clinical aspects and prognostic significance. Arch Dis Child 2001. White F. .77:1255–62. Whitington GL. Devenport M. Kaplan MM. J Pediatr Gastroenterol Nutr 2006.29:822–29. Diseases of the Liver and Biliary System in Children. J Pediatr Gastroenterol Nutr 2003. Brizi M. Newbury R. et al. 14 Roberts EA. Arch Dis Child 2007. et al. 26 Joy D. 28 Abdo A. Liver Disease in Children. Pediatrics 1998. Alpha-1 antitrypsin deficiency. Br J Clin Pharmacol 2001. Goldmuntz E. Orphanet J Rare Dis 2008. Teckman J. 8 Whitington PF. Sokol R. 15 Garcia-Villarreal L.97:2460–2. et al. Inborn errors of metabolism in infancy: a guide to diagnosis. N Engl J Med 2000. Further reading Fregonese L. Meddings J. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. 37:1475–92. 10 Schweitzer-Krantz S. Cianciaruso LB. Colecchia A. Strautnieks SS. J Pediatr Gastroenterol Nutr 2005. 17 Czaja AJ. 16 Ferenci P. 23 Peña-Quintana L.102:1–9. Hepatology 2006. 2007.43:413–27. 25 Festi D. Histopathology of pediatric nonalcoholic fatty liver disease. Diagnosis of fatty liver disease: is biopsy necessary? Eur J Gastroenterol Hepatol 2003. et al. Mogren C. 24 Fishbein MH. Diagnosis and phenotypic classification of Wilson disease. et al. Clin Gastroenterol Hepatol 2004. et al. Conjugated hyperbilirubinemia: screening and treatment in older infants and children.
1 Histological section of a flat mucosa in untreated coeliac disease. which may cause malabsorption. The possession of this haplotype is not enough to cause gluten-induced changes. The abnormality is characterized by stunted or even absent villi associated with an increase in crypt length and cell numbers. The HLA-DQ dimmer is also strongly linked to HLA-DR status8. Pathology The proximal mucosa of the small intestine in patients with CD becomes abnormal on gluten ingestion and small bowel biopsy is essential to confirm the diagnosis (10.1)9. The flat gut lesion is characteristic.1). an intensely itchy. A relationship between various factors and the diagnosis of CD has been described. quality and quantity of gluten. 3. Genetic factors The primary association of CD is the HLA-DQ dimer DQA1*0501/DQB1*0201. but nonspecific of CD (Table 10. The majority of patients and first-degree relatives (and up to 20% of normal controls in susceptible populations) may express this dimer on antigenpresenting cells. . characterized by lifelong intolerance to the gliadin and related prolamines from wheat and other cereals that occurs in genetically predisposed individuals1. villous atrophy reappears when gluten is reintroduced into the diet (gluten challenge)1–3. administration of extra-gluten to HLA-identical siblings of coeliac patients does not always result in pathological changes to the intestine. age at gluten introduction. but recurs if gluten is reintroduced to the diet. chronic papulovesicular skin Epidemiology The true incidence of CD in susceptible populations may be dramatically higher than has been previously recognized1. unless actively identified through mass serological screening. CD affects females more than males (ratio 2:1). Similar intestinal changes are frequently found in dermatitis herpetiformis (DH).2). and the 10. and breast-feeding5–7. All structural damage resolves on gluten withdrawal. Symptoms result from structural damage to the mucosa of the small intestine. including genetic background. 4 and most cases remain undiagnosed. Normal mucosal architecture is restored after commencing a gluten-free diet (GFD). the so-called ‘flat mucosa’ (10. PhD Definition Coeliac disease (CD) is an immunologically mediated enteropathy of the small intestine.Chapter 10 99 Coeliac disease Isabel Polanco MD.
subtotal villous atrophy Marsh IIIC. the first symptoms appear in the months following the introduction of gluten in the diet (10. because symptoms have been either ignored or misinterpretated (e.3. disorder. In general. because the disease is truly symptomless or when some other autoimmune disease occurs (Tables 10. at some other time.2). 10. 2002. have had a flat jejunal biopsy which recovered on a GFD. 10. total villous atrophy Table 10. Histological features. There are in fact subjects who had a normal jejunal biopsy while taking a normal diet. For such subjects the definition of latent coeliac disease has been proposed. partial villous atrophy Marsh IIIB. Children • Transient gluten intolerance • Soy and cow’s protein enteropathy • Autoimmune enteropathy • Acute viral enteritis • Giardiasis • Prolonged malnutrition Adults • Zollinger–Ellison syndrome • Tropical sprue • Giardiasis • Oral contraceptives • Others Latent coeliac disease Coeliac subjects may present with a severe or mild enteropathy at different times of their life.100 Coeliac disease 10. the shorter the interval between introduction and occurrence of the first symptoms. traditionally occur between 12 months and 3 years of age (Table 10. short stature).) Marsh I. caused by granular subepithelial IgA deposits in the upper dermis. lymphocytic enteritis with crypt hyperplasia Marsh IIIA. The first symptoms of CD.2. In a minority of children.1 Causes other than coeliac disease that may produce a flattened jejunal mucosa Clinical features CD can appear with different clinical manifestations. CD can therefore be diagnosed at any time up to adulthood. intraepithelial lymphocytosis Marsh II. This definition can also be applied to ‘late relapsers’10–12.3. therefore.g. with permission.4). The earlier gluten is introduced. DH is now considered as a specific skin manifestation of CD. . Both the cutaneous and intestinal lesions regress with a GFD.4). and. (From Am J Clin Pathol 118(3):459–63. diagnosis is not made by the age of 5 years. lymphocytic enteritis Marsh I.
affecting mostly the buttocks. Table 10.2 Clinical presentation according to the age of onset of symptoms in CD Symptoms Classic presentation Chronic diarrhoea Anorexia Abdominal distension Weight loss Vomiting Irritability/lethargy Signs Abdominal distension Buttock wasting Malnutrition/growth failure Pallor Irritability Psychomotor delay Haematomas Rickets Presentation at older age Asymptomatic Absence of diarrhoea Decreased appetite Anorexia Growth failure Pubertal delay Menstrual irregularities Abnormal (loose) stools Arthritis/arthralgia Abdominal pain Constipation Glossitis. Note his distended and prominent abdomen. aphthous ulcers Short stature Iron deficiency anaemia Osteopaenia Bruising Arthritis/arthralgia Enamel hypoplasia Cerebral calcifications A B 10. thighs.3 An untreated coeliac female. and severe malnutrition. aphthous ulcers Chronic diarrhoea Malnutrition Anorexia Spontaneous haemorrhage Abdominal pain Peripheral oedema Infertility Isolated megaloblastic Paraesthesias anaemia Nocturnal diuresis Cramps/tetany Bone pain Digital clubbing Cerebrospinal Proximal myopathy degeneration Peripheral neuropathy Variety of rashes Hyposplenism . contrasts markedly with the prominent abdominal distension. Subcutaneus fat disappears. and shoulders. Presentation at adulthoood Anxiety/depression Glossitis. B: A typical 3-year-old coeliac male with active disease.Coeliac disease 101 10. muscle wasting. Muscle wasting.4 A. She is pale and looks miserable and depressed.
Madrid (Spain) Classic presentation: 580 cases (57. clinical. The Coeliac Patients Associations help patients to adhere to a GFD and to understand their disease better.4%) • Chronic diarrhoea. Treatment A strict GFD with exclusion of gluten from wheat. Adherence to a strict GFD is essential but not easy and a follow-up control by a gastroenterologist about once a year seems to be advisable. Atypical presentation: 430 cases (42.6%) • Retarded growth 90 • Anaemia 79 • Constipation 72 • Abdominal pain 57 • Abdominal distension 46 • Muscular hypotony 25 • Bleeding 23 • Oedema 20 • Aphthous stomatitis 8 • Epilepsia 6 • Ataxia 4 Diagnosis The diagnosis of coeliac disease requires both a jejunoduodenal biopsy that shows the characteristic findings of intraepithelial lymphocytosis. Overall. rye. and a test for either marker is considered the best means of screening for coeliac disease (Table 10. the diagnosis is easily established. anorexia. However. the sensitivity of the tests for both endomysial antibodies and anti-tissue transglutaminase antibodies is greater than 90%.3 Associated disorders found in 1010 coeliac children at the Hospital Infantil Universitario La Paz Madrid (Spain) Selective IgA deficiency Dermatitis herpetiformis Diabetes mellitus Bronchial asthma Psoriasis Chronic active hepatitis Epilepsy Vitiligo Down syndrome Cardiac disease Thyroid disorders Cystic fibrosis Fibrosing alveolitis Renal tubular acidosis Spino-cerebellar degeneration Total 37 36 32 6 6 6 6 4 3 3 3 1 1 1 1 146 Table 10. The titres of endomysial antibodies and anti-tissue transglutaminase antibodies correlate with the degree of mucosal damage. and histological findings1–3. The various commercially available assays for anti-tissue transglutaminase antibodies have different characteristics and resultant sensitivities and specificities. abdominal distention.1) and a positive response to a GFD. The diagnostic criteria developed by the European Society for Paediatric Gastroenterology and Nutrition2 require only clinical improvement with the diet.4 Mode of presentation in 1010 coeliac Children at the Hospital Infantil Universitario La Paz. etc. barley. Lifelong adherence to a strict GFD should be advised to all coeliac children in order to avoid the late complications of the disease13. In most patients. crypt hyperplasia. the sensitivity of these antibody tests declines when a greater number of patients with lesser degrees of villous atrophy are included in studies.5). The recognition that the enzyme tissue transglutaminase is the autoantigen for the development of endomysial antibodies allowed development of automated enzyme-linked immunoassays that are less expensive than the endomysial antibody test. although histological improvement on a GFD is frequently sought and is recommended in adults because villous atrophy may persist despite a clinical response to the diet. .102 Coeliac disease Table 10. failure to thrive. as a result. and villous atrophy (10. The most sensitive antibody tests for the diagnosis of coeliac disease are of the IgA class. and oats must be recommended lifelong in both symptomatic and asymptomatic individuals. roughly 10% of cases are difficult to diagnose because of a lack of concordance among serologic.
2006. Lanene AM. Basel. et al. Glutensensitive enteropathy in Spain: genetic and environmental factors. Larrauri J. Gluten. The Genetics of Coeliac Disease.5 Serological tests for coeliac disease9 Test AGA IgG AGA IgA AEA IgA Guinea pig tTG Human tTG Sensitivity (%) 57–100 53–100 75–98 90. Coeliac disease in Latin America. Branski D. In: Auricchio S. 3 Troncone R. 211–34. Dynamic Nutrition Research (series). Larrauri J.47(suppl 1):S3–6. MTP Press. Latent coeliac disease or coeliac disease beyond villous atrophy? Gut 2007.5 Specificity (%) 42–98 65–100 96–100 95 98 PPV 20–95 s28–100 98–100 NPD 41–88 65–100 80–95 PPV: positive predictive value. The effect of gluten supplementation in healthy siblings of children with celiac disease. Gut 1983. 5 Polanco I. 10 Polanco I. Peña AS. 11 Kaukinen K. Paediat Res 1981. 1990. and the small intestine. Harmaza L. 13 Holmes GKT. Cellier C. Mäki M. Pediatric Gastrointestinal and Liver Disease. 4 Polanco I. Schmitz J. 2 Walker-Smith JA. Celiac disease. Leeds University Press. pp. 7 Mearin ML. Celiac disease. 8 Polanco I.357:1731–43. A molecular and immunologic approach to the spectrum of gluten sensitivity (celiac sprue). Further reading Baldassarre M.2 98. 226–30. Basel. Mol Diagn Ther 2008. Karger.33:276. Jasinski C. Celiac Disease. Endocr Metab Immune Disrd Drug Targets 2008. 2008.2:105–18. Arch Dis Child 1990. Branski D.15:289–98. major histocompatibility complex. vol 12. Collin P. Coeliac Disease: One Hundred Years. Gastroenterology 1992. N Engl J Med 2007. Guandalini S. Fasano A. Troncone R. Karger. Lancaster. De Rosa S. Does transient gluten intolerance exist? In: Kumar PJ. Guandalini S. Gastroenterol Clin North Am 2008.37:411–28. Auricchio R. Larrauri J. In: Pediatric and Adolescent Medicine. Polanco I. pp. Celiac disease: risk assessment. 517–27. diagnosis. Grosso R. Long-term health risks for unrecognized coeliac patients. Acta Paediatr Belg 1980. HLA-DR phenotypes in spanish coeliac children: their contribution to the understanding of the genetics of the disease. 6 Polanco I. NPD: negative predictive value References 1 Green P. 1992:2:10–29.Coeliac disease 103 Table 10. Report of working group of ESPGHAN. Saunders Elsevier. 12 Polanco I. Biemond I. Common Food Intolerance I: Epidemiology of Coeliac Disease. Murray JA.65:909–11. Prieto G. . 1981. pp. Celiac disease and autoimmunity in the gut and elsewhere. and monitoring. Visakorpi JK (eds). Mearin ML. Setty M. Barton SH. Kiess W (eds). Revised criteria for the diagnosis of coeliac disease. Hyams JS (eds). The influence of breast feeding in coeliac disease. Dyn Nutr Res 1992. Frontiers in Celiac Disease.102:330–54. et al. Biemond I. J Pediatr Gastroenterol Nutr 2008. In: Wyllie R. 9 Marsh MN.75:1193. et al. Severe villous atrophy appearing at different ages in two coelias siblings with identical HLA haplotypes. van Leeuwen A. Middlesex.24:532–37. The Netherlands.56:1339–40. Gastroenterology 1987. et al. et al. Celiac disease: pathogenesis and novel therapeutic strategies.92:678–81. et al.8:152–8. Walker-Smith JA (eds). Vázquez C. In: McConnell RB (ed). 3rd edn.
The autoimmune theory postulates that an antigen is expressed on the patient’s own intestinal epithelial cells and there is an immune response to antigen and own epithelium which are thus destroyed by immune mechanisms. The incidence of UC in children has remained relatively stable. Among others factors.3 (Norway). MD. several authors have suggested the correlation with exposure to infections in the perinatal period or early life. Another hypothesis affirms that there are some common dietary antigens or nonpathogenic microbial agents to which the patient mounts an abnormal immune response. and Javier Blasco Alonso. . While children and adults develop similar symptoms. essential is the interaction with the environment. Epidemiology UC may appear at any age. as yet unidentified with an appropriate but ineffective immune response to these pathogens. Pathogenesis The pathogenesis remains unknown. Most of the children are between 10 and 18 years. According to the extent of the disease. Clinical features The presentation may vary depending upon the extent of colonic involvement and the severity of inflammation.1): • Proctitis (25%): disease limited to the rectum. • Pancolitis (45%): involvement proximal to the splenic flexure. three subgroups have been established (11. children often present with more extensive disease. MD Introduction Ulcerative colitis (UC) is a relapsing and remitting disease characterized by acute non-infectious inflammation of the colorectal mucosa. the administration of nonsteroidal anti-inflammatory drugs. and the inverse relationship with appendectomy before the age of 20 years. Crohn’s disease (CrD) and UC are the two main types of inflammatory bowel disease (IBD). usually up to the caecum. Evidence of higher rates of UC in urban areas raises the issue of a transmissible agent that may be responsible for the disease expression or increased susceptibility. the inverse relationship with breast-feeding. Multiple genes may contribute to the pathogenesis of UC. One hypothesis is that these triggers are microbial pathogens.5 (France) and 4. The incidence of UC in children and adolescents per 100. no specific infectious agent has been associated with the development of the disease. • Left-sided colitis (30%): involving the descending colon up to the splenic flexure.104 Chapter 11 Ulcerative colitis Carlos Sierra Salinas. However. Recent literature reports an intensive search for the antigens that trigger the immune response in inflammatory bowel disease.000 children per year varies between 0.
as a result of irritability of the inflamed rectum. For this reason growth failure is much less frequent than in children with CrD.Ulcerative colitis 105 Table 11. In infancy it is important to exclude other causes of bloody diarrhoea such as allergic colitis and Hirschsprung´s colitis.3). which can be associated with frank blood in the stool. however. The patient has frequent bowel movements. The extent of colonic mucosal involvement and severity of disease correlate with the clinical manifestations of UC (Table 11.2 Disease severity at presentation Differential diagnosis The most difficult decision may be to establish whether the diagnosis is UC or CrD (Table 11. and weight loss (Table 11.4). Identification of a pathogen. which may be small in volume. The predominant symptom is diarrhoea. Other symptoms include abdominal or rectal pain related to defecation. and the passage of semi-formed stool with blood and mucus. uveitis • Unrelated to activity of colitis: – Sclerosing cholangitis – Autoimmune hepatitis – Sacroileitis 11. does not necessarily exclude a diagnosis of UC. except for the demonstrations of extraintestinal manifestations that may be associated with UC. In contrast. fever. Physical examination is notably less informative than in CrD. urgency.1 Extent of bowel involvement in different ulcerative colitis. The infectious aetiologies should be investigated with stool cultures and stool test for Clostridium difficile toxins A and B.1).0 g/dl .1 Symptoms of ulcerative colitis Colonic • Rectal bleeding • Diarrhoea • Tenesmus • Incontinence • Lower abdominal cramps and pain with defecation Proctitis Left-sided colitis Pancolitis Systemic • Tiredness • Weight loss • Fever Extraintestinal • Related to activity of colitis: – Peripheral arthritis – Erythema nodosum – Iritis. Mild • Up to 4 stools per day • Presence of blood in the stool less than daily • No systemic symptoms Moderate/severe • ≥5 stools per day • Daily presence of blood in the stool • With or without systemic symptoms Fulminant • ≥ Grossly bloody stools per day • Fever >38°C • Tachycardia • Haemoglobin ≤8 g/dl • Serum albumin ≤3.2) Table 11. as a first episode of UC may present after documented enteric infection (Table 11. The majority of patients will present with a history of symptoms for several weeks. Proctitis may present with tenesmus. left-sided colitis or pancolitis may present with bloody diarrhoea and significant abdominal pain.
with greater sensitivity and negative predictive value compared with those of other common laboratory parameters of inflammation. 5. The serological immune markers antiSaccharomyces cerevisiae antibodies (ASCA) and antineutrophil cytoplasmic antibody with perinuclear staining pattern (pANCA) are associated with CrD and UC. and they are rarely found in healthy controls. and bowel wall ultrasonography measurement is a useful clinical decision-making strategy. ASCA/pANCA. faecal calprotectin is not disease-specific.3 Differences between UC and CrD-colitis UC Long latent period Osteopaenia at diagnosis Growth failure Oral and perianal disease Cytokines No No No No ↑ interleukin 4. Experience with faecal calprotectin in children with suspected IBD has been encouraging and suggests that this protein is a reliable diagnostic predictor for intestinal activity. respectively. However. and bowel wall ultrasonography measurement1. coli • Clostridium difficile • Tuberculosis Parasitic • Entamoeba histolytica • Giardia lamblia .106 Ulcerative colitis Table 11. Viral • Cytomegalovirus • HIV • HIV-related opportunistic infections Bacterial • Campylobacter • Salmonella • Shigella • Yersinia • Escherichia coli 0157:H7 and other enterohaemorrhagic E. If these test results are positive. erythrocyte sedimentation rate. noninvasive imaging modality for the diagnostic and clinical follow-up of IBD patients. ↑ γ interferon and interleukin 12 Yes Yes Table 11. and Creactive protein. The ultrasonographic evaluation of the intestinal thickness has gained importance as a reliable. the patient would then undergo a complete evaluation2. 5. being elevated in all kinds of intestinal inflammation such as infectious enterocolitis. normal γ interferon and interleukin 12 Granuloma Transmural inflammation No No CrD Yes Yes Yes Yes Normal interleukin 4. There is a low diagnostic accuracy of the common laboratory parameters of inflammation such as platelet count. The combined use of faecal calprotectin. stool examination.4 Infectious colitis Initial assessment The first steps in the diagnostic work-up of children with suspected UC should include blood tests.
5) (11.Ulcerative colitis 107 Radiographic and endoscopic evaluation In the early phase.5 Endoscopic staging of ulcerative colitis Stage 0 Stage 1 Stage 2 Stage 3 Vessels slightly kinked. spontaneous bleeding.3). spontaneous bleeding Larger ulcerations. Inflammation is diffuse and solely mucosal. Table 11. oedematous mucosa Histopathological findings UC is defined histologically by diffuse chronic inflammation limited to the mucosa with severe crypt cell distortion (11. no vessels visible.4B) and crypt abscesses (11. slight granularity Individual ulcerations. 11. Evaluation with colonoscopy should be performed to diagnose UC and to determine the extent and severity of UC presentation (Table 11. diffuse goblet cell depletion (mucous depletion) (11. B: slight granularity.4C). C: ulcers. In the active stage there is a disseminated ulceration and loss of haustra (11. D: thickening of the colonic wall. pale mucosa Erythema. A B C D .2). A: Pseudopolyps. the oedema and inflammatory infiltration cause a flattening of the haustras. Vascularity is increased.2 Barium enema. which leads to development of the characteristic collar-button ulcerations. Deeper ulcers may undermine the mucosa.4A).
C D 11. oedematous mucosa. C: crypt abscesses. and small ulcers. C: small numerous and nonconfluents superficial ulcers. B: diffuse goblet cell depletion (mucous depletion). Vascularity is increased.4 Colonic biopsy of ulcerative colitis. D: rectum with loss of vascular pattern.3 Endoscopic findings. Inflammation is diffuse and solely mucosal. A: Crypt cell distortion. A B C . A: Proctitis with erythematous friable mucosa and loss of vascular pattern.108 Ulcerative colitis A B 11. pseudopolyps may be present. B: with more chronic UC.
treatment with oral steroids in a dose of 1–2 mg/kg/day up to 60 mg/day is recommended associated with mesalamine. References 1 Canani RB. and intravenous steroids for 7–10 days. Infliximab in pediatric ulcerative colitis: two year follow-up. 385–418.41(1):1–7. Most of children achieve clinical remission within 3–9 days. J Pediatr Gastroenterol Nutr 2005. Van Limberger J.42(1):9–15. 2 IBD Working Group of the ESPGHAN. Bousvaros A.6 Indications for colectomy in ulcerative colitis • Fulminant colitis • Medical therapy failure • Steroid dependency • Colonic dysplasia . pp. even if they respond to the immunosuppression the majority of patients will require colectomy a few months or years later (Table 11. 3 Mamula P. Murray KF. Further reading Higuchi LM. J Pediatr Gastroenterol Nutr 2004. For mild colitis oral mesalamine (50–70 g/kg/day) or sulfasalazine (50–70 mg/kg/day) are recommended.47:266–72. J Pediatr Gastroenterol Nutr 2008. J Clin Gastroenterol 2008.12 mg/kg/day) or intravenous or oral cyclosporine (2–4 mg/kg/day). Definition of phenotypic characteristics of childhoodonset inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2006. For moderate colitis. Ulcerative colitis. Inflammatory bowel disease in children and adolescents: recommendations for diagnosis: the Porto Criteria. Table 11. at first by weekly reductions by 5 mg/week and then a more gradual taper on alternate days and cessation if clinical remission is maintained. Moore D. Markowitz JE. Escher JC. This dose should be continued for 1–2 weeks depending upon the response. It is then tapered over the next 3 months. then intensive immunosuppression should be started with oral tacrolimus (0. et al. In recent papers. antibiotics. If the child has not responded. Taylor & Francis. et al. Combined use of noninvasive tests is useful in the initial diagnostic approach to a child with suspected inflammatory bowel disease. Children with severe colitis are a medical emergency and require urgent treatment with intravenous fluids. The role of infliximab in treating paediatric UC is not well defined. Refractory inflammatory bowel disease in children. However. et al. Oliva-Hemker M.42: 875–9.6).135:1114–22. Cohen LJ. The immunomodulatory drugs azathioprine (1. In: Guandalini S (ed). Infliximab for ulcerative colitis in children and adolescents. et al. Gastroenterology 2008.Ulcerative colitis 109 Management For children with distal disease.5–2.5 mg/kg/day) can reduce the disease activity and allow the withdrawal of steroid therapy in children with steroid-dependent UC.and long-term clinical improvement in children and adolescents with moderate to severe UC and less effective in steroid-dependent patients3. infliximab (5 mg/kg/day) is associated with short.38(3):298–301. Texbook of Paediatric Gastroenterology and Nutrition. Russell RK. Tanturri de Horatio L. McGinnis JK. Terrin G. local steroids as hydrocortisone or budesonide may be successful but rectal 5-ASA derivatives may also be tried.5 mg/kg/day) and its metabolite 6-mercaptopurine (1. London 2004. Drummond HE.
These patients are more likely to have ileal disease with stricture formation11. The role that genetic susceptibility plays in developing IBD is illustrated by its prevalence in monozygotic twins. Many genetic susceptibility loci have been identified in patients. Many believe that this increase is associated with our improved hygiene5. Similarly. 10. i. macrophages. IBD currently affects nearly 1 million patients in the United States. immune-mediated gastrointestinal (GI) disease and one of the inflammatory bowel diseases (IBD) (including ulcerative colitis [UC] and indeterminate colitis). Aetiology This disease entity stems from an abnormal host immune response to normally occurring gut constituents. while nonidentical siblings have only a 4% concordance rate6–8. This ‘innate immune system’ is comprised of dendritic cells. Nearly 30 patients of every 100. and the incidence is increasing4. large genetic Immunology The intestinal immune system is incredibly complex. The IL-23 receptor is expressed by a pathogenic subset of T cells thought to be the effectors responsible for intestinal inflammation. Lastly. Intestinal epithelial cells have receptors for bacterial products. and Jorge Vargas. Between 36 and 58% of affected twins have an identical twin with CrD. Genetics CrD is a polygenic disease. Paneth cells . natural killer (NK) cells. Most recently. First.000 in the population are diagnosed each year. 5. and natural killer T (NKT) cells14. a genetic polymorphism has been identified in the protein encoded by the organic cation transporter gene (OCTN)12. in the case of antigens borne by intestinal bacteria). Environment The rate of new diagnoses of IBD has increased 10-fold since the 1940s. especially in northern latitudes4. 25% of whom are children1–3. These include genes for proteins that sense bacterial products. at risk patients have a genetic predisposition. Three unifying forces underlie the pathogenesis of IBD. consortia have pinpointed distinct genes that are associated with the development of CrD. there is a dysregulation of the normal homeostasis of the intestinal immune system. 40% of patients with CrD have a ‘gain of function’ mutation in NOD29. there is an environmental trigger (or triggers. The prevalence of IBD is higher in industrialized nations. several genes contribute to the pathogenic immune phenotype.e. MD Prevalence and incidence Crohn’s disease (CrD) is a chronic. researchers have identified a polymorphism in the interleukin-23 (IL-23) receptor gene. Several different cell types protect the mucosa from invasion by neighbouring bacteria. The ‘hygiene hypothesis’ posits that autoimmune disease is on the rise because regulatory cells of the developing immune systems are not educated by the normal complement of environmental bacteria. like the NOD2/CARD15 gene. MD. Next. This polymorphism provides protection against the development of CrD13. but over the last several years. The number of patients affected with CrD outnumbers those with UC nearly twofold2.110 Chapter 12 Crohn’s disease David Ziring. It is the first line of defence and provides the quickest response to antigen without the need for immune memory.
pyoderma gangrenosum (12. weight loss.12). 12.7. gross inspection on endoscopy. scaly rash at the corners of the mouth. The chronic inflammation of IBD is due to a loss of tolerance to these antigens. Ophthalmological findings include episcleritis or uveitis. Besides typical aphthous ulcers appearing in the mouth. Also.3. 12.6). are a special set of CD4+ T helper cells. Specialized dendritic cells are able to stick their processes in between intestinal epithelial cells and ‘sample’ gut bacteria15. patients may have cheilitis. IL-6. or the presence of perianal findings such as skin tags or fistulae (12. Barium radiograph (or ‘small bowel follow through’) studies help in the diagnosis of CrD when the presence of narrowing (stenosis) or ulceration is present in the small bowel (12. 12. The effector cells. . unexplained fevers. well as symptoms lasting in excess of 2 weeks. 12.11. Radiology Several radiological diagnostic studies contribute information to diagnosing IBD.2 Presence of perianal findings: skin tags in a young patient with Crohn’s disease (arrow). as NSAID enteropathy may mimic CrD.1 Presence of perianal findings: fistulae in a young patient with Crohn’s disease (arrow). Seronegative joint pains. These include the barium contrast series and computed tomography (CT) scan (12.8). Patients with CrD may also have associated skin rashes. Physical examination of a patient with CrD may reveal a left lower quadrant mass with tenderness.1.9. normally responsible for toning down the inflammatory response16. These include pauciarticular large joint arthropathy and polyarticular small joint arthropathy.2). a careful clinician will elicit any use of nonsteroidal anti-inflammatory drugs (NSAIDs) in the recent past.Crohn’s disease 111 reside in the crypts and produce antibacterial proteins. stool testing and blood testing for indicators of inflammation. Differentiating acute infectious diarrhoea from CrD relies on negative cultures as 12. Abnormal communication between loops of bowel History and physical examination Patients with CrD and UC typically have quite different presentations. and IL-17.10). and careful analysis of the intestinal tissue biopsies obtained during endoscopy. Diagnosis The diagnosis of CrD depends on several medical modalities. On the other hand. has been given the moniker ‘string sign’ (12. most often seen in the terminal ileum of patients with CrD. radiological imaging. those cells responsible for coordinating the damaging inflammation in CrD. Bowel oedema can be seen as ‘thumbprinting’ or exaggerated swollen mucosal folding. or arthropathies are not uncommon (12. Defects have been identified in special immune suppressor cells. 17.5. These cells produce large amounts of proinflammatory cytokines such as tumour necrosis factor (TNF). or inflammation evidenced as a red. Stenosis. or less commonly. CrD often presents with abdominal pain. 12.4). patients with UC typically present with bloody diarrhoea. such as erythema nodosum. and/or a dampened growth velocity. 12. 12. including a proper history and physical examination.
4 Patients with Crohn’s disease may also have associated skin rashes. 12. pyoderma gangrenosum. These include pauciarticular large joint arthropathy and polyarticular small joint arthropathy. 12. or less commonly.3. such as erythema nodosum. These include the barium contrast series and CT scan. 12. .8 Several radiological diagnostic studies contribute information to diagnosing IBD. or arthropathies are not uncommon.112 Crohn’s disease 12. 12. 12.6 Seronegative joint pains.5.7.
detected in the stool as alpha-1-antitrypsin.13. This protein is . erythrocyte sedimentation rate.10 Barium radiograph study. Some experienced groups use ultrasound as a first approach in imaging for diagnosis of CrD (12.11 CT scan may show signs of bowel inflammation (oedema) (arrow). and C-reactive protein. that stem from chronic transmural inflammation are called fistulae. These include the white blood cell count. platelet number. Iron deficiency anaemia as evidenced by a microcytic anaemia with an elevated red blood cell differentiation width (RDW) may arise as a result of decreased oral intake. such as technetium.Crohn’s disease 113 12.14).9 Barium radiograph studies help in the diagnosis of Crohn’s disease. 12. Ulcerations in the terminal ileum (arrows). blood loss from the Stool testing Patients with CrD often have inflammation that causes the lining of the intestine to leak protein. Loss of haustrations (arrow) and ulcerations (asterisks) in the terminal ileum. Blood testing There are several sensitive indicators of bowel inflammation that can be examined in the blood. Cases difficult to diagnose may employ the use of radiolabeled markers. 12.12 Small bowel follow through study. and can also be noted on these barium radiographs. to tag white blood cells and localize the intestinal site of inflammation. Stenosis in the terminal ileum (‘string sign) (arrow). 12. Other more sensitive and specific markers of inflammation that can be detected in the stool include faecal calprotectin and S100A12. * * 12. Several progressive European centres utilize magnetic resonance imaging (MRI) enterography.
Endoscopy Colonoscopy and upper endoscopy allow the clinician to obtain biopsies for histological diagnosis. A skilled endoscopist typically will locate the ileocaecal valve during colonoscopy and intubate the terminal ileum. Grossly. B: Aphtous ulcers are often seen. Patients often have an elevated titre of antibodies directed against a common yeast antigen. Other antibodies that predict disease complications include those directed against flagellin (CBir). 12. and a common Pseudomonas antigen (I2). and these may take on a linear or serpiginous appearance (11. Coronal view. the outer membrane porin C on Escherichia coli (OmpC). hyperaemia. and confluent linear ulcerations.15). Relatively hypoechoic thick walls (arrows) with echogenic lumen. oedema. 12. Often. Patients may also have a decreased albumin:globulin ratio. Aphthous ulcers are often seen. Sagittal plane.14 Ultrasound of thickened bowel. A B GI tract. . serological testing for antibodies directed against common bacterial antigens have helped in the diagnosis and prognosis of patients with CrD. obtaining biopsies there. More recently. Decreased serum albumin may similarly result from poor oral intake or protein loss from the gut. the product of hypoalbuminaemia and increased globulin fraction due to immune activation.114 Crohn’s disease 12. or poor iron absorption. the rectum is spared gross inflammation.15 Colonoscopy in Crohn’s disease. and these may take on a linear or a serpinginous apperarance. and haemorrhage with intervening areas of normal appearing mucosa. called the anti-Saccharomyces cereviseae antibody (ASCA). the inflammation is evident as discrete areas of erythema. While patients with UC may have mild inflammation in the terminal ileum (‘backwash ileitis’). Inflammation may be found anywhere along the GI tract from mouth to anus. A: Endoscopic view of ileal Crohn's disease showing oedema.13 Ultrasound of thickened bowel. Relatively hypoechoic thick walls (arrows) with echogenic lumen.
The resected bowel specimen may have the appearance of fat on the anti-mesenteric border. Medical therapy Pharmacotherapy for both the ‘induction’ and ‘maintenance’ treatment of CrD depends largely on the activity of the disease. 12. has proven to have remarkable sensitivity that rivals that of barium radiography. or who have complicated disease. Patients with mild disease may enter remission with a course of oral antibiotics such as ciprofloxacin or metronidazole.17). . However. Early findings may only show focal active inflammation associated with a lymphoid aggregate. The finding of ileitis is most often associated with a diagnosis of CrD. Approximately 12–28% of patients with CrD will have noncaseating granulomas detected in biopsies of the upper GI tract (most often in the stomach). chronic. fissures. or linear ulcers. Other patients with mild disease may respond well to locally. The mucosa shows crypt architectural distortion and an increased amount of acute and chronic inflammation in the lamina propria. granulomas. Histology The finding of noncaseating granulomas in the intestine of a patient who does not have chronic granulomatous disease is diagnostic for CrD (12. inflammatory cell infiltrate. Top: a dense. the majority of patients will require maintenance treatment with immunomodulator therapy such as 6-mercaptopurine or methotrexate. such as a chronic intestinal stenosis. and between 70–80% of patients will eventually have surgery over the course of a lifetime18. and a granuloma (arrows) can be seen. 12.17 Histological images from the ileal biopsy of a patient with Crohn’s disease. No granulomas are present. The capsule endoscope produces thousands of still digital images that must be interpreted by a skilled reader. Inflammation of the upper GI tract may be seen in as many as 30% of patients with CrD. 12. may benefit from biological therapy with anti-TNF antibodies. Capsule endoscopy Capsule endoscopy. termed ‘creeping fat’. within the first 10 years of diagnosis. but it has also been reported in patients with UC. and differentiated from normal ‘mucosal breaks’. Those patients who are intolerant or unresponsive to these drugs. Fewer patients have evidence of duodenal cryptitis. Gastritis can even cause delay in gastric emptying. an imaging modality in which the patient ingests a capsule containing a tiny camera. topically acting aminosalicylate preparations or similar steroid derivatives such as budesonide. lymphoid follicles.16 Medium power view of a section of colon from a patient with Crohn's disease. Bottom: same sample in a higher resolution.16. The use of this test is limited because of its cost and the time and expertise required of the reader.Crohn’s disease 115 patients with CrD may have evidence of stricture formation. Management Surgery At least 50% of patients with CrD will require surgical treatment (most often small bowel resection) to treat complications.
up! Monitoring microbes in the intestine. 16 Singh B. 5 Bach JF. Incidence of inflammatory bowel disease in Scottish children between 1968 and 1983.2(4):288–90. 6 Tysk C. 14 Podolsky DK.347(6):417–29. marginal fall in ulcerative colitis. Nat Immunol 2001. Immunol Rev 2001. 7 Russell RK. N Engl J Med 2002. Allez M. Results of a nationwide study. A study of heritability and the influence of smoking. van Assche G.25(1):3–12. Ferguson A.36(5):471–5. J Pediatr 2003. Hoffmann RG.124(4. Chamaillard M. Epidemiologic and clinical characteristics of children with newly diagnosed inflammatory bowel disease in Wisconsin: a statewide population-based study.314(5804):1461–3. et al. Gut 1988. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease.143(4):525–31.411(6837):603–6. Zouali H.30(5):618–22. Read S.116 Crohn’s disease References 1 Kugathasan S. Satsangi J. Defects in CD8+ regulatory T cells in the lamina propria of patients with inflammatory bowel disease. Gut 1989. Inflammatory bowel disease in pediatric and adolescent patients. 10 Ogura Y. . et al.29(7):990–6. 8 Orholm M. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006.411(6837):599–603. et al. Nature 2001. 17 Brimnes J. Gastroenterol Clin North Am 1999. et al. et al. Gillon S. et al. Dotan I. 4 Barton JR. Bonen DK. Aliment Pharmacol Ther 2007. Minnesota. Taylor KD. Binder V. et al. Inohara N. Taylor KD. Ulcerative colitis and Crohn’s disease in an unselected population of monozygotic and dizygotic twins. Brant SR. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn’s disease. Periscope.35(10):1075–81. threefold rise in Crohn’s disease. 3 Loftus E. Inflammatory bowel disease. Nature 2001.28(2):445–58. Gastroenterology 2002. Lin YC.174(9):5814–22. Nat Genet 2004. Gastroenterology 2003. The effect of infections on susceptibility to autoimmune and allergic diseases. Rutgeerts P. Update on incidence and prevalence of Crohn’s disease (CD) and ulcerative colitis (UC) in Olmsted county. 9 Hugot JP. Sorensen TI. Judd RH. et al.123(3):679–88. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease.18(3):525–39. Review article: Altering the natural history of Crohn’s disease: evidence for and against current therapies. Best Pract Res Clin Gastroenterol 2004. 11 Abreu MT. et al. N Engl J Med 2002. Scand J Gastroenterol 2000. Functional variants of OCTN cation transporter genes are associated with Crohn disease. 12 Peltekova VD. Jarnerot G. S1):A36. J Immunol 2005. 15 Gewirtz AT. Rubin LA. Wintle RF. et al. Control of intestinal inflammation by regulatory T cells. IBD: a family affair. Asseman C. Lindberg E. 18 Vermeire S.182:190–200. Madara JL. 13 Duerr RH. Piccoli DA. Concordance of inflammatory bowel disease among Danish twins. 2 Baldassano RN.347(12):911–20.
but it is considered if the length is <80–100 cm. If the intestinal length is between 40 and 80 cm 13.1) (Table 13. In adults it is considered if the intestinal length is <200 cm. it avoids bacterial overgrowth. The presence of the ileocaecal valve improves the prognosis. Although it can be congenital. Adaptation process After a massive small bowel resection. 2. 6. It promotes the enterohepatic recirculation of biliary salts and the release of hormones and pancreato-biliary secretions that maintain the integrity and intestinal function. 2. and malnutrition. In children it depends on age. The length and site of resection are obviously important: ileal resection is worse tolerated than jejunal2. In children.5–3 m and between 6 and 8 m in the adult3. The intestinal length in the term newborn is 2. Enteral nutrition is the principal adaptation stimuli by its trophic effect. and the adaptability of the remaining intestine. MD Introduction Short bowel syndrome (SBS) is a transitory or permanent intestinal failure due to the anatomic loss of extensive segments of small intestine clinically manifested with diarrhoea. SBS is the most frequent cause of intestinal failure in the paediatric population and occurs perinatally in 85%1. and it will be severe if <40 cm1. if intestinal length is <40 cm without ileocaecal valve there is 40% of probability of permanent parenteral nutrition (PN) dependence. malabsorption. avoiding mucosa atrophy2.1 Necrotizing enterocolitis with multiple bowel perforations resulting in short bowel syndrome. 4. as well as in bowel luminal circumference and wall thickness5.Chapter 13 117 Short bowel syndrome Javier Bueno. The pathophysiological consequences of a bowel resection depend on the extent and site of the intestinal resection.1). Table 13. it occurs most frequently after small bowel resection due to gut disorders (13. The definitive intestinal length to develop SBS is not well established. It increases transit time and the contact of nutrients with the mucosa. In addition.1 Main causes of short gut in children • Necrotizing enterocolitis • Gastroschisis • Volvulus • Intestinal atresia • Hirschsprung´s disease • Trauma . the remnant intestine suffers an adaptation process that includes an increase in villous height and mucosal surface area.
2 Complications of parenteral nutrition use Initial supportive management Treatment of children with intestinal failure should be predicated upon three goals: (1) to keep the patient well nourished by PN. Patients with permanent intestinal failure sooner or later will develop cirrhosis and liver failure1. It is also involved in the pathogenesis of the PN-related liver failure.2). Table 13. hepatic dysfunction is a major problem(13.2)4.4).3). presence of intestinal strictures. electrolytes. • Sepsis • Thrombosis. This period is variable and can take 18–45 months6. Long-term PN may be associated with complications that include recurrent central venous line sepsis and liver failure (Table 13.3.4)4. and (3) to enhance the natural process of intestinal adaptation whenever possible. Established liver damage also interfere with adaptation1. haemothorax) • Liver failure • Electrolytes disturbances • Bone disease • Gallblader stones • TPN related social problems: – Limited personal(social/life) – Psychological depression – Pain medication dependance – Poor quality of life – Expensive: US$100–200. delaying the adaptation process. Bacterial overgrowth is frequent due to the absence of the ileocaecal valve. It can produce enteritis that worsens the adaptation process8.000/year 13. 4.5)1. Patients with SBS frequently develop other clinical problems which may require specific therapy (Table 13. A B .118 Short bowel syndrome and the valve is present. and nutrients. Preservation of colon is not only important for the absorption of fluid and electrolytes. In children. PN is the practice of feeding a person intravenously (13. (2) to minimize the faecal losses of fluid. delaying the adaptative process (13. Strategies to avoid or delay liver failure are shown in Table 13. but it also has nutritional advantages: malabsorbed carbohydrates undergo bacterial fermentation in the residual colon where they are converted into short-chain fatty acids7. 2. The presence of a jejunostomy or a terminal ileostomy can produce high output with dehydration and electrolytes disturbances. 80% can achieve nutritional autonomy in 1 year5. The presence of a jejunostomy or a terminal ileostomy can produce high output with dehydration and electrolytes disturbances.2 End jejunostomy. Vanishing venous access • Complications related to central line insertion (embolism. and 17% progressed to liver failure9. It is usually administered through a permanent central line (13. Parenteral nutrition Most patients require PN until their gut has undergone sufficient adaptation to allow survival on an oral diet. and intestinal dysmotility. Surgical venotomies should be avoided in order to preserve the veins. Sondheimer et al. reported that 67% of neonates with PN-dependent SBS developed cholestasis.
Steatosis is more typical in adults. lipids. A 13.3 Strategies to ameliorate liver dysfunction • Optimize PN (fewer lipids) • Cyclic parenteral nutrition • Enteral nutrition (even small amount) • Avoid bacterial overgrowth (oral decontamination) • Ursodeoxycholic acid • Avoid sepsis . A B 13. The patient receives nutritional formulas containing glucose. especially when the ileocaecal valve is absent. Table 13.4 Permanent central venous catheters. A: One B lumen subcutaneous tunnelled catheter with cuff (Broviac–Hickman). Its aetiology is multifactorial and includes alteration in gut motility which leads to intraluminal stasis which is thought to be a major aetiologic factor for bacterial overgrowth and subsequent cholestasis. and vitamins that are stored in sterile bags and delivered by a medical infusion pump. trace elements. B: steatosis. Thorax X-ray with Port-a-cath in place. amino acids.3 Parenteral nutrition administration. A: Cholestasis. B: reservoir (Port-a-cath).5 PN-related liver damage.Short bowel syndrome 119 13.
ocreotride is detrimental to gut adaptation because it reduces nutrient transport. Ursodeoxycholic acid may improve liver dysfunction. and the use of antisecretory drugs. diphenoxylate. it can interfere with growth.g. plays a role in the trophic effect of short-chain fatty acids on intestinal adaptation. shortchain fatty acids). Enteral nutrition Drip enteral nutrition can be advanced as soon as the patient can tolerate it. Therefore. the use of either specific (e. High-volume output from a jejunostomy requires restriction of oral fluids.6 Placement of a gastrostomy should be contemplated in initial surgery based on the severity of the short gut to administrate continuous enteral feeding.4 Other complications related to short bowel • Behavioural feeding problems (phobia to oral foods and hyperphagia) • Metabolic acidosis (including D-lactic acidosis) • Cholelithiasis • Urolithiasis • Electrolytes disturbances • Gastro-oesophageal reflux • Bone disease • Dystrophy • Diarrhoea • Bacterial overgrowth 13. . The amino acid glutamine is the main fuel for enterocytes and is also a substrate for the synthesis of nucleic acids10. intestinal growth factor-1 [IGF-1]) or general growth factors (e. growth hormone) can promote intestinal adaptation11. Short-chain fatty acids are readily absorbed across the colonic mucosa. whereas long-chain fatty acids are not absorbed by the colon. Specific nutrients can be delivered to the cells of the intestinal mucosa. released by the intestinal L cells. codeine phosphate) increase the contact time between nutrients and the mucosa. and to treat periostomy or perianal irritation. On the other hand. Glucagon-like peptide-2. long-term administration can promote bacterial overgrowth. they are used to decrease the stomal output. 12. Gastric hyperacidity and increase in serum gastrin levels are frequently observed transiently (6–12 months) following a massive bowel resection. The use of cholestiramine is useful if the diarrhoea is due to the cathartic effect of unabsorbed bile salts. Medium-chain triglycerides increase the absorption of energy in SBS with a functioning colon2. Unless controlled with proton pump inhibitors or H2 receptor blockers.e. a high-energy iso-osmolar diet.120 Short bowel syndrome Table 13. as happens with fermentable fibre (pectin) and their products (i.6). Ocreotride is a universal inhibitor of exocrine and endocrine gastrointestinal and pancreatic secretions. In addition. followed by bolus feedings (13. They promote intestinal structure and function by providing substrates for the synthesis of essential molecules or by providing energy.g. In addition. However. Enteral nutrition stimulates the release of pacreatico-biliary secretions that maintain the structure and function of the intestine and the release of regulatory peptides from the intestine. Medical therapy Drugs that reduce motility as opioid substances (loperamide. it may result in extensive gastric or duodenal ulceration.
The International STEP Registry until May 2006 has reported 38 cases19. • Stricturoplasty. a liver biopsy is recommended. To evaluate the severity of the short gut syndrome. 17 were weaned of TPN with a mean follow-up of 6 years16. The bowel is divided into two longitudinal leaves based on the bifurcated mesenteric blood supply. leaks. the presence of dilatation. and function of remaining bowel. In the short-term follow-up it is effective. It is a gold standard rule to try to preserve the ileocaecal valve as well as to perform jejuno-colic anastomosis whenever possible. Dilated intestine causes stasis and ineffective peristalsis. A definitive surgical treatment is indicated after failure of medical management. strictures. When used. Anti-mesenteric tapering enteroplasty is an alternative to resection in dilated bowels to preserve bowel length and improve bacterial overgrowth14. postSTEP 115 cm). their use has been anecdotal. Complication rate is high with intestinal necrosis. Longitudinal stricture incision with transverse suture. In the Kimura procedure. they are often combined with other procedures. These are arranged in series by end-to-end anastomosis to double the original bowel length. Interposition of a segment of colon between two limbs of the small bowel14. The length of the intestine in this series was duplicated (pre-STEP 68 cm. Lengthening procedures All lengthening procedures require bowel dilatation. In the presence of liver dysfuntion. The recommended minimal length of the antiperistaltic loop is 10 cm in adults and 3 cm in children13. Although different types of valve have been created. A ‘second look’ laparotomy is indicated because delimitation of the viable intestine will be clearer 24–48 hours later. Bueno et al.7). CT scan with oral contrast and 3-D reconstruction provides the same information about the pancreas. but also requires bowel dilatation (13. imaging studies are required. Abdominal ultrasounds rule out gallbladder stones or sludge. The type of operation will be defined by different factors: age. it is important to be conservative and preserve as much length of the small and large intestine as possible. and bowel obstruction.Short bowel syndrome 121 Surgical treatment When a paediatric surgeon deals with an intestinal catastrophe. There is a high incidence of recurrence in the long-term follow-up. and then the two hemi-loops are reconnected in an isoperistaltic way in series with the rest of the intestine. • Recirculation circuits. • Reversed intestinal loop. Maintaining colonic continuity serves to delay gastric emptying and decreases energy/carbohydrate losses8. reported their experience with 25 patients with 72% survival. there are only anecdotal reports. It is not used because it facilitates bacterial overgrowth. The idea is to produce a loop of intestine in which nutrients can recirculate several times6. A different approach is the tapering enteroplasty with plication of the mesenteric bowel with stitches. and the development of total parenteral nutrition (TPN) related complications. It is the most commonly used method of gastrointestinal reconstruction for SBS15. bacterial overgrowth. There are improvements in stool output. • Isoperistaltic colon interposition. Recently. one from its antimesenteric half and the other from its mesenteric half. and established cirrhosis17. Patients with a jejuno-colic anastomosis rarely have problems with their fluid and electrolyte balance. transit time. length. Gastrointestinal series and barium enema are crucial to study the intestinal anatomy and to rule out strictures. Stomas should be reserved only in those situations in which it is strictly necessary to avoid an additional loss of intestinal length and to preserve colonic function. • Artificial valves. . secondary longitudinal split of the bowel is performed to provide two bowel loops. intestinal transit time. ultra-short gut. So far. Based on the importance of the ileocaecal valve6. and D-xylose and fat absorption. It consists of the interposition of a segment of bowel in which peristalsis is in the opposite direction. Surgical complications such as obstruction and leaks have been described. longer follow-up is needed. The longitudinal lengthening procedure was described by Bianchi in 1980. Techniques to avoid bacterial overgrowth • Enteroplasty. initially the anti-mesenteric surface of a segment of bowel is coapted to host organs such as liver and abdominal wall18. however. Serial transverse enteroplasty (STEP) is a simple and effective procedure introduced in 2003. After vascular collaterals across the coaptation site have developed from these host organs. have recommended avoiding the procedure in neonates. Techniques to slow transit time None of the following procedures have been associated with significant clinical success. Waag et al. It can even be applied in intestines with prior Bianchi procedure.
. the 1year graft survival in experienced centres is above 80%. while recurrent sepsis and frequent hospital admission due to dehydration and electrolyte disturbances are relative indications. Vanishing venous access is the main indication for isolated small bowel transplantation (13. 4. If the whole gastrointestinal tract is affected by disease such as pseudo-obstruction and desmoid tumours the choice is multivisceral grafts. New immunosuppressant protocols. Kocoshis S. The most common indication for transplantation was SBS. et al.34(1):27–32. 2. PN-related liver failure is an indication for combined liver–small bowel transplantation. with an overall survival of 55. and new strategies have contributed to dramatic improvements in survival in recent years. the dilated intestine is transected transversely from opposite directions.122 Short bowel syndrome A B C D 13. major expertise. References 1 Bueno J. The risk of acute rejection is very high and it is the leading cause for graft and patient loss. Factors impacting the survival of children with intestinal failure referred for intestinal transplantation.4%20. to create a zig-zag channel without placing the mesenteric blood supply at risk. Endoscopic surveillance with intestinal biopsy is the only tool to detect allograft rejection. Ohwada S. J Pediatr Surg 1999. The requirements of high doses of immunosuppressive agents and greater incidence of sideeffects such as a high incidence of opportunistic infections and lymphoproliferative disorder are still a barrier for its success19.8). The Intestinal Transplant Registry has recently reviewed the world experience on 772 transplants in 721 paediatric recipients. Nowadays. Small bowel transplantation Intestinal transplantation is indicated when patients developed PN complications1. 19. such that survival rates are approaching those of other solid organ transplantation.7 STEP procedure. With multiple GIA stapler shots.
Mazariegos GV. Baglin-Gobet S. J Pediatr Gastroenterol Nutr 2004. Guiterrez J. Bueno J. Nutr Clin Pract 2007. Yang G. Colon interposition for the SBS. Asturias E. Current status of intestinal transplantation in children. et al.124(4):1111–34. Eur J Pediatr Surg 2005. Further reading Ching YA. Effect of glutamine-supplemented elemental diet on mucosal adaptation after small bowel resection in rats. J Am Coll Surg 2007. Kamin D.8:633–41.22:600–7. Park JH. Gastroenterology 2003. glutamine. 13 Zhou Y. Eichelberger MR.14(1):98–102.9(4):260–2. Templeton JM. Duro D. 6 Goulet O. Colon as a digestive organ in patients with short bowel. J Pediatr Surg 1993. Transplantation 2007. SBS: metabolic and surgical management. Normal length of the human gastrointestinal tract. Overview of pediatric short bowel syndrome.83:1–6. 14 Garcia VF. Pediatr Pathol 1988. Longitudinal intestinal lengthening and tailoring: results in 20 children. A new treatment for patients with short-bowel syndrome. glutamine and a modified diet for short bowel syndrome: meta-analysis of clinical trials. et al. Loseke CA.131(3):356–61. Kocoshis S. Nutr Hosp 2008. and complications. 20 Reyes J. Lupo JV. Scolapio J. 2 Goulet O. 3 FitzSimmons J. 19 Modi BP. Wu XT. Outcome and long-term growth after extensive small bowel resection in the neonatal period: a survey of 87 children. Jaksic T. Talbotec C.21:394–8 11 Byrne TA. and a modified diet. J Pediatr 1997.Short bowel syndrome 123 13. Asia Pac J Clin Nutr 2005. Lancet 1994.343:373–6. Molenaar J. Langnas AN. Wessel L. Pinch LW. Cadnapaphornchai M. Pediatric intestinal failure: nutrition.23(suppl 2):25–33.22:653–63. 10 Michail S. Mohammadpour H. J Pediatr Surg 1981. Ann Surg 1995. Current status of transplantation of the small intestine. .16(6):994–5. Ann Surg 1995. Clinical evidence of growth hormone. et al. International STEP Data Registry.33(2):243–54.47(suppl 1):533–6. et al. A new bowel elongation technique for the short-bowel syndrome using the isolated bowel segment Iowa models. Soper RT. Ruiz P. et al. 12 Thompson JS.204(3):365–71. Growth hormone.8 Small bowel transplantation. J Royal Soc Med 1997. 4 Buchman AL. What do children look like after longitudinal intestinal lengthening? Eur J Pediatr Surg 1999.90:429–32. efficacy.36(1):178–83. Moreno Villares JM. Shepard TH. Gura K. 9 Sondheimer JM. J Pediatr Gastroenterol Nutr 1995. Analysis of patients with longitudinal intestinal lengthening procedure referred for intestinal transplantation. Hansen CS. pharmacologic. et al. and surgical approaches. 15 Bianchi A. Br J Surg 1994. Younf LS. 18 Kimura K. Parenteral nutrition-associated liver disease. Kato T. Chiin A.81:486–99. et al. Infection and cholestasis in neonates with intestinal resection and long-term parenteral nutrition. Persinger RL.15(2):95–101. J Pediatr Gastroenterol Nutr 2008. Tzakis A. et al. Surgical approach to the SBS. J Pediatr Surg 1998. 16 Waag KL. 7 Nordgaard I. J Pediatr Surg 2001. Irreversible intestinal failure. AGA technical review on SBS and intestinal transplantation. Javid PJ.27(2):131–7. Duggan C. 17 Bueno J. et al.38(3):250–69. Fryer J. J Pediatr Gastroenterol Nutr 1998.222:243–55. 5 Shanbonhogue L. First report of the international serial transverse enteroplasty data registry: indications. Hosie S. et al. Modi B. Influence of bacterial overgrowth and intestinal inflammation on duration of parenteral nutrition in children with SBS. 8 Kaufman SS. et al.28(6):792–4. Mortensen PB.
23 • Hirschsprung's disease: 2 • Intestinal malrotation: 2 • Duodenal atresia: 1. It can contain ectopic pancreatic tissue or gastric mucosa. This mechanism occurs later in the foetal period and is therefore not necessarily associated with other malformations3. The majority are developmental disturbances or embryopathies. Its histological structure is similar to that of the ileum. explaining possible haemorrhage. MD Introduction The most significant congenital gastrointestinal malformations are Meckel’s diverticulum and anorectal malformations1. 50% have symptoms before 2 years of age and 80% before 10 years. Other digestive tract malformations are foetopathies. There is also an infrequent giant form of Meckel’s diverticulum.124 Chapter 14 Congenital gastrointestinal malformations Iñaki Eizaguirre. These embryopathies occur in a phase in which all the organs are forming (3rd to 8th week).5 • Annular pancreas: 0. Meckel’s diverticulum may present as haemorrhage (25–30%). with the consequent atresia.18 . to the presence of a fibrous cord that can give rise to intestinal obstruction by trapping a loop of bowel. thus the presence of multiple anomalies is common. intestinal. with the discharge of intestinal fluid through the umbilicus.1 Frequence of gastrointestinal malformations (number of cases/10. B). The most reliable diagnostic test is a 99mTc gamma scan (14.74 • Intestinal duplication: 0. which usually gives rise to episodes of occlusion in the neonate (14. MD.000 births) • Meckel's diverticulum: 220 • Anorectal malformations: 3. and colonic or rectal atresias. this test shows an abnormal uptake in the centre of the abdomen.6 • Colonic atresia: 0.1A.1C).2). It can present in a variety of anatomical forms from the complete persistence of the yolk stalk. Meckel’s diverticulum This is a formation in the shape of a cone or the finger of a glove attached to the anti-mesenteric margin of the ileum (14.2 • Jejuno-ileal atresia: 0. and is found in a 2:1 male/female ratio. 2 (Table 14. probably due to ischaemic accidents that give rise to duodenal. It cause symptoms in only 4% of individuals.01 • Oesophageal atresia: 2. Table 14. it can invaginate and give rise to intestinal obstruction or as a diverticulitis with or without perforation.1). Meckel’s diverticulum is found in 2% of autopsies. and Agustín Nogués. When the diverticulum contains ectopic gastric mucosa. The interruption of the blood supply to a segment of the primitive intestine leads to the reabsorption of that segment. Treatment consists of resection of the diverticulum.
rectoperineal. and require complex surgical treatment. Anorectal malformations Anorectal malformations are usually embryopathies.2 Technetium isotopic scan showing an anomalous signal at the level of distal ileum (arrow).3 Minimal distance between skin (marked by radioopaque reference) and air-filled rectal pouch is demonstrated in radiographic plain film. and rectovaginal fistulae and cloaca. B: common shape.1 Meckel´s diverticulum. It is worth waiting 24 hours for the rectal pouch to fill. rectobulbar. A flat perineum is a poor prognostic indicator as it suggests an absence of musculature. . Hirschsprung’s disease. gastrointestinal: oesophageal atresia. The description of the fistula gives an idea of the severity of the malformation: in males. 14.Congenital gastrointestinal malformations 125 14. it is considered a severe form (14. duodenal atresia. facilitating evaluation of the malformation. When this measures more than 1 cm. Ultrasound is used to measure the distance from the rectal pouch to the skin. rectovestibular. A B C 14. in females. C: giant. All forms are considered severe with the exception of the rectoperineal forms.3). rectoperineal. particularly hemivertebrae. with associated abnormalities in 60% of cases: cardiovascular (tetralogy of Fallot). bone. In 90% of cases there is an abnormal communication between the rectum and the urinary tract (in males) or the genital structures (in women). rectoprostatic and rectovesical fistulae. Diagnosis Diagnosis uses perineal examination and ultrasound. A: small. or genitourinary: vesico-ureteric reflux.
6). oEsophageal.4) 14. a colostomy and.4 Type V oesophageal atresia. 5. In other cases. an external elongation of the two oesophageal ends has been performed in order to approximate them sufficiently to be able to perform an anastomosis4. digestive tract 20%. Cardiac.2).2 Different types of oesophageal atresia • Type I: 8%.5. V) (14. IV. descent via a posterior sagittal approach (Peña’s posterior sagittal anorectoplasty). . Survival varies from 97% in group I on the Spitz classification (weight >1500 g with no heart disease). Proximal tracheo-oesophageal fistula and blind inferior pouch • Type III: 86%. Associated malformations are very common: bone 30%. urological 20%. Distal tracheo-oesophageal fistula and blind superior pouch • Type IV: 1%. Anal. Surgical treatment consists of a primary anastomosis when the separation between the ends allows this. • Difficulty passing a nasogastric tube (14.The two ends of the oesophagus are separated and do not communicate with the respiratory tract (no fistula) • Type II: 1%. 14.5). This is not a true atresia as the oesophagus is permeable (14. IV. V). to 47% in group II (weight <1500 g or heart disease) and 20% in group III (weight <1500 g and heart disease)2. Proximal and distal tracheooesophageal fistulae • Type V: 1%. ‘H’ fistula. – Intestinal meteorism (III. • Plain X-ray: – Nasogastric tube. Limb). Oesophageal atresia Prognosis and treatment The abnormal separation of the tracheo-oesophageal bud gives rise to a large number of possible anatomical variations of this malformation. Tracheal. Recently. Patients usually present with salivation. Renal. heart defects 20%.126 Congenital gastrointestinal malformations Treatment In the milder forms (perineal fistula or <1 cm distance on ultrasound) treatment consists of performing a direct opening of the rectal sac (cut-back). although the most frequent is type III (Table 14. in a second phase. respiratory distress. Otherwise a gastrostomy and an oesophagostomy can be performed in order to replace the oesophagus later with stomach or colon. – Absence of gas (types I and II) (14. and VACTERL association: (Vertebral. Diagnosis • Prenatal ultrasound shows an absence of the gastric bubble in types I and II. Table 14. and abdominal distension (forms with a distal fistula: III.6).
Congenital gastrointestinal malformations 127
14.5 Radiographic plain film in oesophageal atresia with tracheo-oesophageal fistula showing an air filled stomach and intestinal metheorism. Note the coiled feeding tube in the upper oesophageal pouch (arrow).
14.6 Radiographic plain film showing the absence of abdominal air and a feeding tube in the superior oesophageal pouch (arrows).
In Hirschsprung’s disease (HD) the affected intestine presents a spastic contraction, as occurs in any denervated intestine. It is unable to dilate, giving rise to a functional obstruction (14.7). HD can affect more than one member of the same family. There is a genetic abnormality, the deletion of the long arm of chromosome 10, that is located close to the region of the RET proto-oncogene that has been found in some patients with HD6. There may be associated abnormalities including trisomy 21 and 18, anorectal atresia, von Recklinghausen’s disease, Waardenburg´s disease, or multiple endocrine neoplasia type 2.
Functional obstruction, the intensity of which depends on the intestine affected. There are two clinical forms: neonatal, with the absence of emission of meconium in the first 24 hours and symptoms of low intestinal obstruction (abdominal distension and vomiting), and the form presenting in the older child, with severe constipation that does not resolve with the usual measures.
Severe enterocolitis and sepsis, which may lead to intestinal perforation. This is a life-threatening situation that sometimes requires emergency colostomy.
• • • – – Absence of ganglion cells in the plexus. Hypertrophy of the nerve fibres. Neuronal and peptide markers: Increased acetylcholine and neuropeptide Y secretion. Decreased vasoactive intestinal peptide, substance P, and nitric oxide synthase.
Barium enema (14.8), anorectal manometry, demonstrating an absence of the rectoanal inhibitory reflex (14.9), and biopsy are the decisive tests.
Congenital gastrointestinal malformations
2 1 1
14.7 Hirschsprung`s disease in two patients. A: (1) Aganglionic obstructed segment corresponding to sigmoid. (2) Normal, ganglionic, descending colon. B: (1) Aganglionic rectal segment. Black arrow: place where full-thickness rectal biopsy was done. (2) Normal ganglionic sigmoid segment. White arrow: place of biopsy in the transition zone.
14.8 Barium enema in neonatal Hirschsprung’s disease. Narrow rectosigmoidium segment and dilated suprastenotic colon which presents inflammatory mucosal changes. Distention of intestinal loops.
Canal 4 Pressure mmHG escala: 10.0
Canal 5 Pressure mmHG escala: 10.0
Canal 4 Pressure mmHG escala: 10.0
Canal 5 Pressure mmHG escala: 10.0
14.9 Recto-anal inhibitory reflex. A: Present; anal canal relaxation after a pressure increase in the rectum. B: Absent; no anal canal relaxation.
Congenital gastrointestinal malformations 129
The aims of the classical surgical techniques (Duhamel, Soave, Rehbein, Swenson) are to resect the aganglionic intestine, leaving 1–2 cm of the final part, necessary to guarantee continence. In recent years, new techniques and the introduction of minimally invasive surgery have led to a reduction in the age at which patients are operated on, which was classically between the 8th and 10th month. The recently described De la Torre Mondragón technique7 with or without laparoscopic assistance, is currently the most accepted technique in several paediatric surgical departments. • Absence of the final 90° rotation: the right colon remains in the midline, fixed by peritoneal bands (Ladd’s bands) which compress and obstruct the duodenum. Treatment is by section of the bands and repositioning of the caecum in the right iliac fossa. • Internal hernias: abnormalities of the mesentery of the duodenum or right or left colon can create spaces into which the intestinal loops can prolapse as hernias. These are very variable situations which require individualized surgical approaches.
Alterations of the process of intestinal rotation and fixation during the process of re-entry of the primitive intestine into the abdominal cavity give rise to multiple types of malrotation. These are uncommon but very variable and sometimes complex abnormalities, though the clinical presentations can be summarized into three situations: • A complete absence of rotation (14.10). There is a risk of volvulus and intestinal necrosis if it is not treated in time (14.11). The symptoms include bilious vomiting and the treatment is by devolvulation and fixation in an uncomplicated position for the common mesentery, with the small intestine on the right side and the colon on the left.
A barium enema may be helpful showing the whole colon on the left (no rotation), or the caecum high close to the liver (lack of the last 90º twist). In cases of no rotation an ultrasound can show a reverse position of the mesenteric vessels with the vein situated on the left and the artery on the right.
14.11 Midgut volvulus. Intestinal necrosis, twisted mesenteric vessels (arrow). 14.10 Twisted duodenum not crossing the duodenal vessels.
14 Radiographic plain film. Double bubble air sign in duodenal atresia. the only sign is a difference in diameter between the proximal and distal segments. the operation may be limited to a simple resection of the membrane via a duodenotomy. In Type 1. 14. perforated in its centre. Externally. 14. stomach and duodenum are dilated in the prenatal ultrasound (14.130 Congenital gastrointestinal malformations Duodenal atresia This is characterized by polyhydramnios.12 Prenatal ultrasound. atretic pouches with a defect in the mesentery in the form of a ‘V’.13 Duodenal dilatation caused by diaphragm.12). Treatment Treatment is side-to-side anastomosis of the proximal part (proximal to the ampulla of Vater) and the distal part. Oesophageal atresia and aspirative pneumonia in the posterior segment of the right upper lobe. A variation is an incomplete membrane. disconnected. producing duodenal stenosis (14.13). Minimal amount of contrast is delivered in the distal duodenum across a small perforation. Type II is two blind. distal to the ampulla. Prenatal ultrasound shows a typical image of a ‘double bubble’. Type III is two blind. associated with trisomy 21 (25%) and other associated malformations present in 50% of cases (Type I). Stomach and duodenum are dilated. Type I is atresia in the form of a mucous membrane or diaphragm formed by the mucosa and submucosa.14). . Diagnosis Patients present with bilious vomiting. which is confirmed on plain X-ray and postnatal ultrasound (14. atretic pouches connected by a fibrous cord and with an intact mesentery. 14.
15A).16B). of which there are few if the atresia is in the proximal jejunum (14. B: Type II ileal atresia. Diagnosis Diagnosis is on clinical presentation. It gives rise to a very short intestine with a large defect in the mesentery. • Type IIIa: two blind.15 A: Type I ileal atresia. right colic. disconnected. atretic pouches with a defect in the mesentery in the form of a ‘V’ (14.15B).e.15C). a partial intraluminal occlusion. The Grosfeld classification2 divides this malformation into: • Type I: atresia in the form of a mucous membrane or septum with intact intestinal wall and mesentery (14. with vomiting. The plain abdominal Xray shows dilated loops. Associated abnormalities are present in <10%. There is polyhydramnios on the prenatal ultrasound and dilated loops may be observed. more distal (14. . with an intact mesentery (14. The intestine distal to the atresia receives a precarious. See the Foley catheter pulling on the membrane. The barium enema shows a colon of small diameter due to a lack of use. which occurs earlier the higher the atresia.15D). close to the duodenojejunal flexure. Very high jejunal atresia. or inferior mesenteric arteries (14.Congenital gastrointestinal malformations 131 Jejuno-ileal atresia It is a true atresia in 95% of cases. • Type IIIb: also called ‘apple peel’. • Type II: two blind. • Type IV: multiple atresias. Treatment Treatment is resection of the grossly dilated loops and endto-end anastomosis. A B C D 14.16A) and many if it is ileal. retrograde blood supply via the ileocolic. C: IIIa ileal atresia. The remaining 5% are due to intestinal stenosis. atretic pouches connected by a fibrous cord. D: Type IIIb ileal atresia (apple peel). i.
of variable length. and can involve up to the whole length of the digestive tube (14. Gallbladder Duodenum Bladder Ileal duplication 14. Approximately half of all duplications affected the small bowel (50%). . including the mucosa. Treatment is surgical. Duplications have all the layers of the gut.18 Surgical procedure revealed spherical ileal duplication.17. B: distal ileum atresia. Duplications can give rise to intestinal obstruction or haemorrhage.132 Congenital gastrointestinal malformations A B 14.18). Intestinal duplications Duplications are always situated on the mesenteric margin.16 A: Proximal jejunum atresia. 14. can be spherical or tubular. and of the colon. followed in frequency by duplications of the oesophagus (20%). 14.17 MR T2 image shows evidence of a cystic right flank mass. and often present heterotopic gastric mucosa8.
. J Pediatr Surg 1998. Further reading Dasgupta R. Navarro C. Mosby-Year Book. Warner BD. Langer JC. It is sometimes a casual finding. EW Fonkalsrud. References 1 EUROCAT Website Database: www. 2 Grosfeld JL.bio. Prenatal ultrasound shows dilated loops of intestine.13:6–24. Levitt AA. Shinkai T. in which case it is better to perform a colostomy with anastomosis at a later stage. A new rodent experimental model of oesophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Gastroenterol Nutr 2008. Catton K. St Peter SD. in which multiple dilated loops of intestines are observed. Kendall TC.co. J Pediatr Surg 1996.9:135–40. Lippincot Williams & Wilkins. Tovar JA.14(1):8–15. Treatment is primary anastomosis of the ends of the intestine. Khan KM. Semin Pediatr Surg 2004. as long as there is no contraindication.31:498–502.medical. Surgical treatment is similar to that for duodenal atresia. A flexible approach to achieve a true primary repair for all infants with oesophageal atresia. 8th edn. Philadelphia.uk. Anorectal malformations. VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature. such as perforation with peritonitis. MI Rowe. Ortega-Salgado JA. 8 Stern LE. 4 Diez-Pardo JA. with a side-to-side anastomosis between the proximal and distal segments. Valusek PA. 3 Sadler TW. 6 Puri P. they are of a high obstruction. AG Coran (eds). J Pediatr Surg 2000. Orphanet J Rare Dis 2007. Semin Pediatr Surg 2005. Transanal endorectal pull-through for Hirschsprung’s disease.46: 13–19. Baoquan Q. Annular pancreas The presence of pancreatic tissue around the duodenum in the form of a ring can give rise to duodenal obstruction similar to that of duodenal atresia. with which it is frequently associated. Evaluation and management of persistent problems after surgery for Hirschsprung disease in a child. Pathogenesis of Hirschsprung’s disease and its variants: recent progress. In: JA O’Neill Jr. Louis./eurocatline (data uploaded 17/11/2006).26:2–33. Pediatr Surg Int 2007. 1998. 5th edn. Langman´s Medical Embryology. 7 De la Torre-Mondragon L.Congenital gastrointestinal malformations 133 Atresia of the colon This is less frequent than the other intestinal atresias. When symptoms arise. It is associated with jejuno-ileal atresia and Hirschsprung’s disease. 2003. et al.33(8):1283–6. Keckler SJ. Gastrointestinal duplications. Pediatric Surgery. Peña A. St. 5 Foker JE. The symptoms are those of a low intestinal obstruction and the diagnosis is not difficult with plain abdominal X-rays.23:309–13.
Appendectomy is the most common surgical procedure performed for acute abdominal pain in children (15. The appendix does not elongate as rapidly as the rest of the colon.2).1)1. but no appendicitis2.3). but this descent finishes after childhood. Incidence among preschool children is unusual. Children who have appendicitis are twice as likely to have a positive family history as are those with right lower quadrant pain. After rotation and descent.7% for girls. The arterial supply is terminal. The blood supply of the caecum and appendix is the appendiceal branch of the ileocolic artery. The rate of negative appendectomy is considered acceptable for up to 10% of laparotomies for suspected acute appendicitis. the base of the appendix is located at the posteromedial wall of the caecum about 2. The incidence of acute appendicitis has been estimated at about 1 case per 1. The variability of its descent and rotation leads to multiple possible final positions of the appendix4. but in this age group delayed diagnosis and complications are more frequent. The development of the caecum and appendix begins in the caecal diverticulum on the anti-mesenteric side of the caudal end of the medial intestine. The infant caecum is located in the right iliac fossa in about 55% of individuals (15.67% for boys and 6. that make diagnosis difficult. with slightly higher incidence among boys. The diagnosis of acute appendicitis in childhood can sometimes be difficult. Around one-third of children with acute appendicitis are found to be perforated at surgery. The malpositioned appendix may give rise to signs of inflammation in unusual locations. MD Introduction Acute appendicitis is a common paediatric surgical disease requiring urgent attention.134 Chapter 15 Paediatric appendicitis Adolfo Bautista Casasnovas.5 cm below the ileocaecal valve. Paediatric surgeons performed significantly fewer negative appendectomies than general surgeons3.000 children per year. Early diagnosis continues to be the most important factor for prognosis. so that thrombosis leads to rapid necrosis (15. around the fifth week of gestation. . 15. which passes behind the terminal ileum. The lifetime risk of appendicitis is estimated to be 8.1 McBurney´s point is located two-thirds of the distance from the umbilicus to the anterior superior iliac spine.
In the early phases. Pseudomonas. . and perforation. and mesoappendix with congestion of the blood vessels and inflammatory exudates. from the normal state to perforation.3 Normal vascular supply of the appendix. Obstruction increases intraluminal pressure leading to ischaemia. Only the clinically relevant distinctions of simple appendicitis (15. McBurney’s point. Many terms have been used to describe the pathologic stages of appendicitis. Pathophysiology Obstruction is a fundamental factor in the development of acute appendicitis.4) and complicated appendicitis should be made. Enterococcus. including Escherichia coli. 15.4 Typical appearance of simple appendicitis during surgery. necrosis. In later phases.Paediatric appendicitis 135 Ramus colicus Ileal 4% Retrocecal 65% Ileocolic artery Ramus ilealis Appendicularis artery Pelvic 31% 15. The characteristic organisms responsible of appendiceal inflammation are predominantly anaerobic. appendix. 15. bacterial invasion. when the purulent secretion from the appendiceal wall contacts the parietal peritoneum.2 Possible positions of the appendix and their relative frequency4. somatic pain fibres are triggered and the pain localizes near the appendiceal site. bacterial overgrowth. Bacterioides fragilis. and Clostridium5. It is possible to observe the caecum. activation of receptors in the intestinal wall leads to perception of pain in the periumbilical region. Klebsiella.
Difficulties of diagnosis may arise with patients younger than 2 years. and associated fluid secretion. lethargy. Nausea and vomiting appear after the onset of pain. The main symptom is abdominal pain. The routine use of rectal examination is controversial. Fever higher than 39ºC is usually associated with complicated appendicitis (gangrenous and perforated). Anorexia is a helpful sign. In these two patient categories. In 50% of cases an abdominal mass is detectable on palpation. preceded by appetite loss in about 50–60% of children. Pain of a retrocaecal appendix may be in the flank or back. and the patient’s face should be watched for signs of discomfort. If vomiting precedes abdominal pain. and no more than 1ºC above normal. Urine sediment analyses are useful for detecting patients requiring fluid resuscitation and diseases of the urinary tract. It may be useful for detection of possible pelvic abscess or ovarian pathology. The point of maximal tenderness is localized at McBurney’s point. together with fever.5). and specificity . Although appendicitis is uncommon in infants. Neutrophilia is more decisive for diagnosis than leukocytosis.1) (15. Diagnostic imaging Imaging studies rarely add significant information in cases of classic appendicitis. neutrophils. inguinal or testicular pain.000/mm3. Very high WBC suggests perforation or another diagnosis. In fact the important thing to look for during examination is any localized area of abdominal pain. Young patients aged 1–4 years. Clinical presentation The classic sequence (persistent abdominal pain. Acute appendicitis typically occurs in older children. Other common manifestations include abdominal distension. this age group has a high rate of complications because of delayed diagnosis. peaking at around age 11–12 years. with increased polymorphonuclear leukocytes. faecalith is observed only in 10–15% cases of confirmed appendicitis (15. this pain gradually migrates to the right iliac fossa. Rebound tenderness or Blumberg’s sign (i.e. the red blood count and WBC in urine may be elevated. analytical and imaging studies can provide additional information. A child with acute appendicitis typically walks bent over and slowly. The key point in this group of patients is vomiting. A pelvic appendix resting near the ureter or testicular vessels can cause urinary frequency. usually beginning as a vague periumbilical pain or mild gastrointestinal discomfort. fever. and localized pain on palpation at McBurney’s point) starts with periumbilical pain. and should be reserved for equivocal cases and when patient observation is indicated. or ureteral compression with hydronephrosis. sensitivity (85–90%). other diagnoses should be considered. 20% of patients with acute appendicitis will have a normal WBC. Laboratory tests WBC is of limited diagnostic value. and anorexia. diarrhoea. Abdominal tenderness is the most constant physical finding. Associated with tenderness progressively are abdominal muscle spasms. noninvasiveness. Plain film. 10. Ultrasonography has constituted a significant advance in the diagnosis of acute appendicitis. pain felt on sudden release of steady pressure in the right iliac fossa region) reflects irritation of the parietal peritoneum of the inflamed appendix. and with preadolescent obese girls. and pain during examination is not specific to appendicitis. which appears after pain and vomiting. Physical examination Palpation should always be first superficial and then deep. The specific gravity and ketones are elevated. although it has a lower sensitivity and specificity. The incidence of appendicitis gradually increases from age 1 year onwards. Characteristically the pain is implacable and is exacerbated by movements and pressure. The palpation should start in an area without pain. Invariably this exploration causes discomfort to children. The presence of faecalith is highly suggestive of acute appendicitis.6). In doubtful cases it is useful to monitor WBCs. making ambulation painful and difficult. After several hours. If the appendix is located adjacent to the ureter or the bladder.000–16. based on its rapidity. however. Symptoms may be influenced by the anatomical location of the appendix. typically show vomiting and irritability. The paediatric surgeon may expect to make the accurate diagnosis in 80–90% of cases. and immature neutrophils. and draw up their legs to reduce pain. remains useful for detecting secondary problems associated with inflammation (Table 15. The last symptom in the clinical evolution is fever.136 Paediatric appendicitis Diagnosis The diagnosis of appendicitis should be based on a careful history and physical examination. Typically leukocyte count is mildly elevated. as long as the patient is not receiving antibiotics. White blood count (WBC) and imaging rarely add significant information.
15. constipation. 15. basal pneumonias. with a size >6 mm in diameter.7. * . The most characteristic ultrasound criteria for appendicitis include the presence of noncompressible tubular structure corresponding to the inflamed appendix. a complex mass in the right lower quadrant. It should be the first approach in doubtful cases. hydronephrosis.8)6.6 Simple radiography of the abdomen in a patient with acute appendicitis.5 Upright film showing multiple air–fluid levels in the small bowel and absence of gas in the colon. Reports of centres with skilled radiologist often recommended ultrasonography for all children with suspected appendicitis (15. and may mimic many others diseases such as gastroenteritis. and inflamed periapendicular fat tissue. It is of particular value in adolescent and prepubertal girls. Differential diagnosis Appendicitis in childhood presents with uncommon features in 50% of cases. 15. increase in mural thickness. pericaecal inflammatory changes. 15. has become the most informative imaging technique in the study of patients with atypical manifestations (15.Paediatric appendicitis 137 Table 15. faecalith. showing appendicolith in the right iliac fossa (arrow).2). showing distended noncompressible tubular structure (arrows) with faecalith (asterisk). or free peritoneal fluid.9)7. lithiasis) (Table 15.7 Ultrasonography of a patient with acute appendicitis. Abdominal computed tomography (CT) with sensitivity and specificity of 98%. and urinary pathology (tract infections.1 Abnormal signs usually found in plain film in acute appendicitis • Dilated caecum with air-fluid level • Appendiceal faecalith • Antalgic scoliosis of the right concavity • Dilated loops • Obliteration of the lower-right psoas margin • Obliteration of the preperitoneal fat line • Free peritoneal fluid • Free peritoneal air • Paucity of gas in the right-lower quadrant • Small bowel obstruction (92–96%). typical of bowel obstruction.
The appendix is distended with increased wall thickness and faecalith inside. The following findings are found in appendicitis: fluid-filled tubular structure measuring >6 mm in diameter. and focal caecal apical thickening. 15. abscess or phlegmon in adjacent tissue.2 Possible differential diagnoses of acute appendicitis Urogenital tract • Hydronephrosis • Urinary tract infections • Lithiasis • Wilm’s tumour • Premenstrual syndrome • Ovarian pathology • Pelvis inflammatory disease • Salpingitis • Ectopic pregnancy Colon • Appendiceal tumours • Appendiceal mucocoele • Constipation • Crohn’s disease • Intestinal obstruction • Diverticulitis • Typhlitis Small bowel diseases • Gastroenteritis • Mesenteric adenitis • Duodenal ulcer • Meckel’s diverticulitis • Inflammatory bowel disease • Intussusception • Intestinal obstruction • Intestinal tuberculosis • Typhoid infection Hepatobiliary • Cholecystisis • Viral hepatitis • Cholangitis Miscellaneous • Cytomegalovirus • Pneumonia • Pleuritis • Primary peritonitis • Henoch–Schönlein purpura • Viral exanthematous diseases • Sickle cell anaemia • Diabetic ketoacidosis • Pancreatitis • Omentum infarction • Parasitic infection • Abdominal migraine • Acute porphyria • Psoas abscess • Burkitt´s lymphoma • Familial Mediterranean fever • Haemolytic uraemic syndrome • Kawasaki disease . fat stranding.8 Ultrasonography. Table 15. longitudinal and transverse view. faecalith.9 Classic pelvic CT scan showing a distended appendix (arrow).138 Paediatric appendicitis 15.
Paediatric appendicitis 139
The treatment of choice is surgical excision (appendectomy), and depends on both the general condition of the patient and the state of appendix. In many cases children are dehydrated, septic, or acidotic. Rapid administration of intravenous fluid and electrolytes (to restore acid–base balance) is essential for a successful outcome. appendectomy if the patient improves within 24–72 hours. Interval appendectomy after nonoperative management is controversial. Indications for an open appendectomy (OA) or laparoscopic appendectomy (LA) are based on hospital personal and facilities, surgeon skills, and experience. Frequently, laparoscopic approach is avoided when bowel obstruction is present or an abdominal mass is palpable. In young and slim patients, open appendectomy through a small incision is easier and faster. Although the McBurney approach is still widely used, the author prefers a Rockey–Davis approach, transverse rightlower quadrant incision, placed above anterior superior iliac spine and lateral to rectus abdominus (15.10). When the peritoneum is exposed and incised, if free fluid is present it should be aspirated. Once the appendix is accessible the mesoappendix is taken down between clamps and divided (15.11). The appendix is released from its mesoappendix and vascular attachment and prepared for ligature (15.12). The base of the appendix is crushed with a clamp and ligated (15.13). In cases of peritonitis, if the caecum walls are thickened, congestive or friable, invagination of the appendiceal stump should be avoided. When a faecalith is present, it should be located and removed.
It is widely accepted that the use of antibiotics is clearly beneficial8. Antibiotics must be administered prior to skin incision. It is unnecessary to culture peritoneal fluid routinely in each case of acute appendicitis. Intraoperative cultures have not shown to alter the treatment outcome9. For many years the gold standard for complicated appendicitis was a 10-day course of ampicillin, gentamicin, and clindamicin or metronidazole; in recent years many surgeons have dropped ampicillin coverage. For simple appendicitis a single agent such as cefotetan, cefoxitin, ticarcillin/clavulanate, or piperacillin/tazobactan is typically prescribed. For complicated appendicitis a combination such as ceftriaxone/metronidazole or ticarcillin/clavulanate plus gentamicin are used10. Standard antibiotic therapy at the author’s institution is preoperative treatment with gentamicin (or tobramycin) plus metronidazole in all cases of acute appendicitis, with a low incidence (<4%) of postoperative infections and abscesses. In simple appendicitis, treatment is continued for 24–48 hours, and in complicated appendicitis for as long as 5–10 days. A prospective randomized study demonstrates equivalence between prolonged intravenous therapy and intravenous therapy followed by conversion to oral antibiotic therapy in children with perforated appendicitis11.
Appendectomy is not an emergency procedure, it should be treated as a semiemergency procedure. A recent study concluded that in children with acute appendicitis, delaying surgery until the daytime hours did not significantly affect operating time, perforation rate, or complications12. When the appendix is perforated, surgery is less urgent. If peritonitis is present most surgeons will proceed with appendectomy after preoperative fluid resuscitation and antibiotics have been started. Another group of surgeons will continue nonoperative management and avoid
15.10 Skin incisions: red: transverse Rockey–Davis approach; blue: oblique classic McBurney approach.
LA is an alternative to conventional OA, but its advantages are still widely debated (Tables 15.3, 15.4). The author uses LA in obese children, and in those with suspected alternative diagnoses. LA is at least as effective as OA, with the advantage that the initial laparoscopy reduces the risk of incorrect diagnosis13. A review of 45 published trials of LA compared with OA show that LA reduced the rate of wound infections by one-half but increased the rate of intra-abdominal abscess four-fold. The most common
15.11 Complicated appendicitis: perforated appendix. Mesoappendix is exposed and prepared for division.
15.12 Perforated appendix released from its mesoappendix attachment.
15.13 The appendiceal stump is inverted and purse-string suture is tied.
Table 15.3 Advantages and disadvantages of laparoscopic appendicectomy
Advantages • Initial laparoscopy reduces the risk of incorrect diagnosis • Less traumatic • Reduction of postoperative pain and better postoperative comfort • Easy treatment of ectopic appendix • Efficient lavage of the peritoneum • Less frequent postoperative complications • Faster recovery and discharge from hospital • Lower surgical wound infection rates
Disadvantages • The operation takes longer • Higher cost • Requires paediatric surgeons with experience in this technique
Paediatric appendicitis 141
Table 15.4 Indications for laparoscopic appendectomy
• Acute appendicitis • Suspected appendicitis in patients with abdominal pain • Appendicular mass and/or peritonitis • Chronic abdominal pain • Suspected neoplasia • Incidental appendectomy during laparoscopy for other indications
technique is the three trocars technique, the sites of trocars vary depending the surgeon preferences, appendiceal position, and the presence of complications (15.14, 15.15). Independent of the type of appendectomy, the patients with simple appendicitis are usually ready to start oral fluids 8–24 hours after surgery. Intravenous fluid requirements are assessed regularly and discontinued as soon as possible. Patients can be discharged home within 48–72 hours. They may be checked after 1 week to ensure that they have no postoperative infective complications. In complicated appendicitis, antibiotic are continued depending on clinical progress. These patients may require nasogastric tubes and intravenous fluids for longer.
15.14 Possible trocar situations.
15.15 Typical appearance of appendix during laparoscopy.
16). The overall complication rate is 10% and major complication rate of 4%. Small bowel obstruction occurs in 2% of patients with complicated appendicitis. The patient has persistence of pain and ileus. and if not responsive to medical treatment (nasogastric suction. if the abscess is located in Douglas’ pouch. opening the edge of the wound. the progress in pre. hypersensitivity.and postoperative care.142 Paediatric appendicitis Complications The most frequent complication of acute appendicitis is infection.17 Faecal fistulae in a girl after complicated appendicitis with peritonitis. spontaneous suppuration may also occur. It typically presents in the first week after surgery as localized pain. The best results for children with appendicitis are obtained with the combination of surgical evaluation. Current mortality rates for complicated appendicitis is below 0. fever.17). rapid surgery when diagnosis is clear. radiology imaging if necessary. or incision and drainage. Intra-abdominal abscess rate is less than 7%. Exceptionally open drainage may be required (15. A: Abscess. Wound infection rate should be below 4% in simple appendicitis and below 8% in complicated cases. and rather higher in children aged less than 2 years15. different studies report than perforated appendicitis did not increase the risk of infertility14. the more severe the peritonitis. Other unusual complications include postoperative intussusception. sometimes in the subphrenic space or medial zone of the abdomen. It should be treated with antibiotics.16 Ultrasonography in a case of abdominal abscess. . The incidence of postoperative complications have markedly decreased. The risk is increased when the appendix is perforated. and parenteral nutrition) may require surgery. or drained percutaneosly under ultrasound or CT guidance or transrectally in the operating room. The abscess can be treated conservatively. faecal fistulae (15. B A 15. 15. B: bladder. and care provided by experienced clinicians and institutions16. Some controversy exists about fertility after abdominal sepsis. Situated behind the bladder. and improved anaesthesia techniques. and leukocytosis. intravenous fluids. and tumefaction. perhaps due to the use of broadspectrum antibiotics. reddening. A painful fluctuant mass can be palpated in rectal examination. pylephlebitis. the longer the period required for recovery of normal intestinal transit.5%. Abscesses are usually located in the pelvis. a period of observation if diagnosis is unclear. Prolonged intestinal paralysis (ileus) is directly related to peritoneal infection.
et al. et al. Neugebauer EA. 13 Sauerland S. et al. Appendicitis. 9 Moawad MR. 4th edn. Dunn JC. pp. 3 Somme S. 577–585. Calkins CM. J Pediatr Surg 2001. 571–9. 10 Rodriguez JC. Folkman J.16:34–40. Newman KD. McGrawHill Professional. J Pediatr Surg 2007.38:492–9. In: Ashcraft KW.136:1391–5. Coran AG.37:5–9. pp. Holcomb GW. pp. Pediatric Surgery.50:676–84. Appendicitis. Appendicitis.Paediatric appendicitis 143 References 1 McBurney C. 15 Blomqvist PG. Cochrane Database Syst Rev 2005. New York. In: Grosfeld JL. In: Walker WA. Radiology 2006.20(3):CD001439. Durie PR. 2000.39:464–9. Pediatric Surgery. Chapter 60. Guiney EJ. 8 Andersen BR. Azizkhan R. Int J Clin Pharmacol Ther 2000. Drongowski RA. McGuinness EP. WB Saunders Company. Comparison of two antibiotic regimens in the treatment of perforated appendicitis in paediatric patients. 2006. et al. In: Ziegler M. 7 Doria AS. 14 Puri P. 821–9. Langer JC. Laparoscopic versus open surgery for suspected appendicitis. The position of the vermiform appendix as ascertained by an analysis of 10. Hirschl RB.233:455–460. Acute appendicitis. Arch Surg 2001. Chapter 48. Kellenberger CJ. Kallehave FL. pp. et al. Paediatr Radiol 2007.18(4):CD001546. BC Decker.41:1020–4. 739–49. 12 Yardeni D. Hamilton. 2004. Brown RL. Andersen HK. The role of imaging in children with suspected appendicitis: the UK perspective. et al. Taylor & Francis. Weber TR (eds). 1501–12. A simple and more cost-effective antibiotic regimen for perforated appendicitis. Results of a pilot trial comparing prolonged intravenous antibiotics with sequential intravenous/oral antibiotics for children with perforated appendicitis. O´Neill JA Jr. Buckner D.67:277–83. Chapter 98. Semin Pediatr Surg 2007. Morrow SE. Textbook of Pediatric Gastroenterology and Nutrition. Appendicitis. Murphy JP (eds). London. Philadelphia. Fertility following perforated appendicitis in girls.42:221–6. Ein SH. 4 Wakeley CP. Delayed versus immediate surgery in acute appendicitis: do we need to operate during the night? J Pediatr Surg 2004. Mortality after appendectomy in Sweden. 2 Gauderer MW. (eds). Sharp RJ. 16 Morrow SE. Philadelphia. Antibiotics versus placebo for prevention of postoperative infection after appendicectomy. Schoenike S.60:1588–90. Operative Pediatric Surgery. . Mosby Elsevier. To T. (eds). Appendicitis. pp. Justin T. NY State J Med 1889. US or CT for diagnosis of appendicitis in children and adults? A meta-analysis. Cochrane Database Syst Rev 2004. Philadelphia. 2003. 2005. Acute appendicitis in children: the importance of family history. Chapter 42. In: Guandalini S (ed). et al. 671–89. Int J Clin Pract 2006. Lund DP. 2000.000 cases. pp. Newman KD. 1987–1996. Effect of subspecialty training on outcome after pediatric appendectomy. 3rd edn. Moineddin R. Lefering R. New York. Murphy JP. Ann Surg 2001. et al. Diagnosis and Management. et al. Hamilton JR. Further reading Bautista Casasnovas A. J Pediatr Surg 2006. 11 Rice HE. Dasmohapatra S. Current management of appendicitis. J Pediatr Surg 1989.36:1214–17. 6 Lander A. Green JA. Andersson RE.24(6):547–9. Chapter 43. In: Ashcraft KW. Experience with early operative interference in cases of diseases of the vermiform appendix. Granath F.241:83–94. Crane MM. Pediatric Gastrointestinal Disease: Pathophysiology. et al. Value of intraoperative abdominal cavity culture in appendicectomy: a retrospective study. Little DC. Gollin G. et al. Stevenson RJ. Elsevier Saunders. 3rd edn. J Anat 1933. 6th edn. Pediatric Surgery. 5 St Peter SD. Chapter 45.
improving the evolution of the disease. Clinical dietetics covers the nutritional management of sick infants and children (either in an acute or chronic phase) to fulfill their requirements in a clinical and/or outpatient setting.6 kcal) Energivit® PFD-1® (1 g = 5. There are infants with certain diseases (metabolic.144 Chapter 16 Paediatric clinical dietetics Amaya Peñalva Arigita. RD Introduction Dietetics is defined as the application of the principles of nutrition to the selection of food and the feeding of individuals and groups1.3 kcal) PFD-2® (1 g = 4 kcal) Promod® Protifar® Composition Glucose Glucose Glucose Glucose MCT MCT LCT LCT Glucose Glucose Glucose Glucose Glucose polymers polymers polymers polymers polymers + + + + + LCT/MCT LCT/MCT LCT/MCT LCT/MCT LCT/MCT polymers polymers polymers polymers Lipids 1 ml = 9 kcal Carbohydrates + lipids 1 g = 4.1).0 kcal Whole protein . and/or using commercial nutritional supplements. using nutritional modules that are added to a formula (Table 16. recommending certain foods.9 kcal Proteins 1 g = 4.1 Nutritional modules2 Nutrient Carbohydrates 1 g = 4 kcal Module Polycose® Fantomalt® Maxijul® Dextrinomaltose Resource® Resource MCT oil® Liquigen® Solagen® Supracal® Duocal/Duocal MCT® Duocal liquid® (1 ml = 1. Others may need supplementation. This can be done in terms of adjusting the diet. allergies) who need special enteral formulas to adapt the whole diet. and decreasing the incidence of Table 16. Many studies demonstrate the advantages of nutritional supplementation in different groups of patients. adjusting menus.
She takes by mouth what she can and the rest is given by the nasogastric tube. puberty).6 5.9 6 g per pot 12 6.2 8.2 7. An adequate nutritional status allows a normal growth and development. size increases and body composition changes.2 A gastrostomy tube in a child with Menkes’ disease. This is a girl with failure to thrive.75 6. .5 (300) 1 (250) Proteins (g) (per unit) 5.5 (300) 1. Growth can be compromised in the presence of a chronic disease especially when it coincides with peaks of growth (infancy. This implies certain nutritional requirements which are higher than those of the adult.1).2). 16.2).2 (300) 151/pack 1.6/g (200/pot) 1. As the disease progressed the child was unable to be fed normally and it became essential to find an alternative way: a gastrostomy tube placed by endoscopic procedure was the solution. the immaturity at birth involves special requirements in terms of 16. Besides.8 8. Some children may require the use of paediatric supplements to increase their poor oral intake (Table 16.2 Paediatric enteral formulae (for use in children older than 1 year) Formula Pediasure Pediasure Fibre Pediasure Plus Isosource Junior Isosource Junior Fibre Resource CF Resource Protein Resource Junior Fortini Nutrini Energy Nutrini Energy Multi Fibre Novasource Junior Peptinex Kcal/ml (per unit) 1 (201) 1 (201) 1. Other children may need a complete nutritional support via nasogastric tube (16.5 (300) 1.Paediatric clinical dietetics 145 Table 16.2 (305) 1. via gastrostomy (16.4 6. She has a tracheostomy due to a laryngomalacia.6 8.5 (300) 1.5 Administration Oral Oral Oral Oral Oral Oral Oral Oral Oral Enteral Enteral Enteral/oral complications3.5 (300) 1. During growth.75 4.1 A nasogastric tube may be useful for supplementing the oral intake. or by means of parenteral nutrition when the gastrointestinal tract is not functional.
In acute malnutrition the weight may be altered maintaining the rate of height. Skinfolds provide information about the changes produced in the subcutaneous components of the fat and fat-free mass. colour changes of tongue.6).3 Physical signs of malnutrition4. keratomalacia. although in a chronic state this rate also appears altered. there is a need to assess adequately nutritional status before starting any nutritional support. presence of oedema. paleness. and hepatomegaly. it is essential to perform a correct nutritional assessment.4). This measurement is used in conjunction with the skinfold . and it would be advisable to weigh always at the same time and with the same conditions7. but no one measurement will give an overall picture of the status of all nutrients (16. quality of nutrients. types of foods. problems with teeth. standing height is then measured whenever possible (16. Therefore.3 Algorithm of nutritional assessment. mid-axillar. should be evaluated. Children can be weighed in beam balance scales or electronic scales. change in colour • Lips/mouth: stomatitis. bruising • Hair: thin.3). along with mood and behaviour as children may be apathetic and irritable. sparse.3).5). Weight shows variability during the day. such as abdominal distension. and subscapular. thyroid enlargement • Eyes: xerosis. gums • Face: fullness of cheeks (oedematous malnutrition). and in each moment there is an ideal weight for a determined height. There are a number of methods assessing specifics aspects of nutritional status. abdomen. From 2 years old. as this area is hardly affected by oedema. The presence of malnutrition signs. suprailiac (iliac crest). The child is growing continuously. lingual atrophy. Table 16.146 Paediatric clinical dietetics Nutritional assessment Clinical assessment Anthropometry Dietary assessment Physical features Biochemistry Haematology Weight/height Head circumference Mid-arm circumference Skin folds 24 hour recall 3–7 day record history (food diary) Frequency test 16. This growth retardation is an important sign of malnutrition. There are seven sites of measure: triceps. It is important to watch out for the constitution of the child. 5 • Skin: dry. is measured supine (16. thigh. chest. They are measured with a skinfold caliper. Biochemistry and haematological tests are also useful (Table 16. Height measurement for infants and children less than 2 years old. pale conjuctiva • Nails: spoon shape. and a limited response to overloading which can lead to complications. Weight measurement is an easy and routine procedure (16. Mid-arm circumference is useful to determine the state of muscle mass. Anthropometry is a physical examination which provides an indirect assessment of body composition and development.4). Clinical assessment This includes a complete medical history and physical examination (Table 16. scale. especially differentiating those who are skinny by genetics from those who have lost muscle mass. cheilosis. straight (‘lifeless’). koilonychie Nutritional assessment In the dietetic approach to a sick infant or child.
sodium. but if this is not possible it is important to record the way the child has been measured. distribution of protein. Ideally infants should be weighed naked or just with a clean nappy. It reflects protein and iron (as it transports it) status. chloride. It accounts for over 50% of total serum proteins. Low levels reflect prolonged protein depletion as it breaks down slowly. It responds quickly to changes in protein intake and is a good indicator of nutritional therapy. It is not a good indicator of response to nutrition therapy as it responds slowly to changes in protein intake • Prealbumin: (half-life 2 days). It responds quickly to changes in protein intake and is a good indicator of nutritional therapy • Serum enzymes: to monitor organ function • Urine test: to detect protein status (by urinary urea nitrogen and creatinine excretion) • Haemoglobin. legs. When an iron deficiency is present it is not a good indicator of protein status. the heels are against the footboard. vitamin–mineral status and alterations of metabolism or organ function with nutrition implications Proteins: • Total plasma protein: serum level may detect liver function. which can elevate it • Retinol-binding protein: (half-life 12 hours). mean corpuscular volume.4 Infant scale (10 g precision).Paediatric clinical dietetics 147 Table 16. rate of protein use by the body • Albumin: (half-life 20 days). such as kidney disease (treated with corticosteroids). 16. haematocrit. and zinc (its deficiency retards growth and typically accompanies protein-energy malnutrition) 16. potassium. mean corpuscular haemoglobin • Total lymphocyte count: when malnutrition is present there is a reduction in white blood cell count • Vitamins: water-soluble and fat-soluble • Minerals: calcium.5 Two people are needed to measure length precisely: one to hold the child in position and the other to record the measurement. Albumin concentrations though may be depressed by many conditions besides malnutrition • Transferrin: (half-life 4–8 days). There are other conditions which can lower prealbumin levels and others. availability of amino acids (protein intake). Measurement of length is difficult and it requires carefully positioning of the infant. ensuring that the back. the shoulders are touching the baseboard. copper. selenium. and head are straight. and the crown of the head is touching the headboard. magnesium.4 Laboratory tests (biochemical and haematological)6 Laboratory test help to define protein status. . A marked decrease means a severe malnutrition condition.
Anything beyond these limits is at risk of an alteration.6 Standing height: the correct position is with bare feet. Many different growth charts have been published and it is important to use the correct version. triceps to differentiate between lean and fat.65 Normal range: Z ±1. They can be estimated using the Schofield8 equations. The normal range lies between the third and 97th percentiles. either based on standard nomograms (RDA.28 Body mass index (BMI)* Weight (kg)/(height (m))2 *Using age-related centile charts (In children BMI is not related to health but only with distribution of body fat which is dependent on age) Obesity: Z +1. the back and the legs straight.28 x 100 Waterloo index (height): Height (cm) Height in P50 for age For height: Normal: >95% Mild CPM: 90–95% Moderate CPM: 85–89% Severe CPM: <85% x 100 . buttocks.)9 or by indirect calorimetry.28 Acute malnutrition (wasting): Z <1. the heels.5 Nutritional indexes11 Waterloo index (weight): Weight (kg) Weight at P50 for height Classification of caloric-protein malnutrition (CPM): For weight: Normal: >90% Mild CPM: 80–90% Moderate CPM: 70–79% Severe CPM: <70% Z score Real anthropometric value (weight or height) – median P50 Standard deviation Classification: Risk of malnutrition: Z: –1. For protein requirements the standards are also set in this normogram. although excessive intake of protein should be checked.148 Paediatric clinical dietetics 16. etc. Table 16. All these anthropometric data need to be reflected in a percentiled growth chart.65 Overnutrition: Z +1. It has been suggested that excessive protein intake may jeopardize certain physiological functions in infants10. and back of head touching the measurement board and the child looking straight ahead. WHO tables. All the data are going to be useful to calculate the nutritional indexes that are available to determine nutritional status (Table 16. adjusted to the population studied. Weight and height are essential for estimating individual requirements.5). although marked decreases within the normal range are also a warning sign of possible nutritional problems. shoulder blades.
eating difficulties. drooling and so on (Table 16. It enables the assessor to double check the information obtained previously. This is time consuming and requires skill.6). Cases A–D are such examples. . This information has its limitations as it is always an estimated approach. This information will provide the background for developing discussion with the carers (usually parents) on realistic nutritional goals with a nutritional intervention (Table 16. maple syrup disease) involve a thorough understanding of the deleterious effects of the precise error of metabolism. nausea. close dietary advice is necessary to address deficiencies which may develop from such a restricted diet. followed by the appropriate intervention which includes the adjustment of the diet. Furthermore.6 Aims of the dietary assessment • Search for information • Analysis of the information • Dietetic diagnosis (estimating requirements. Start a new register • Monitor in the outpatient clinic Intervention Several diseases and/or the effects of treatment can result in decreased appetite. vomiting. Others such as inborn errors of metabolism (phenylketonuria. and malabsorption which can compromise the child’s nutritional state. Adequate nutrient intakes do no guarantee adequate nutrient status6. A 24-hour recall is the first-line approach as it is quick and easy to do by a skilled professional. using what has been eaten the day before.7 Food diary information • Food frequency • Quality/quantity of food • Fluids/type and frequency • Feeding routine Analysis of food intake data A skilled dietitian has to estimate quickly the amount of calories and protein intake.7). It can give an idea of the food ingested but not absorbed. It is a good way of making the record keeper responsible for personal food choices and eating habits (in grown children). A dietetic diagnosis is made. There are different ways of obtaining the information depending on the need for accuracy. The usual carers or the child are interviewed to recount what the patient normally eats in a usual day. In these cases there are various approaches but often the cornerstone of treatment is diet. A food frequency test is used to obtain more precise information. Table 16. estimating food intake is particularly difficult in those taking solids as it is difficult to know how much food is lost in spitting. possible nutrient imbalances.Paediatric clinical dietetics 149 Dietary assessment A diet history provides a record of food intake which reflects eating habits.8 Dietetic diagnosis and intervention • Defining nutritional status • Intervention after checking nutritional requirements • Changes done in the register. This can be confirmed manually by using food composition tables or using a computer dietetic analysis program. In infants. A 3–7-day record history (food diary) provides an accurate account of food intake and eating behaviour. followed by a close monitoring plan agreed and adjusted to the needs of the patient and family (Table 16. Other diseases may need only nutritional advice and guidance.8). Substrate restriction by an individualized diet is necessary and in times of illness a careful calorie support adjustment is essential to avoid catabolism12. and other factors which can affect food intake. Once the calculations are made they are compared with the requirements calculated for the child. Table 16. fulfillment of those requirements) • Prioritizing objectives • Dietetic intervention • Monitoring/assessment Table 16.
04 (<P3) 239 kcal = 219. The mother is encouraged to keep offering breast-feeding.I. Height: 55. but the baby gets tired. meeting her requirements. congenital heart disease Nutritional assessment Weight: 4. W.068 x w (4.150 Paediatric clinical dietetics Case A: Fortification with nutritional modules of an infant diet Female.2 kcal BMI: 12.730 = 0.9186 x Z (weight): –3.4 Caloric intake (kcal) 292 + 17 = 309 286 + 11 + 21 = 318 330 + 23 + 43 = 396 7:00 Day 1 50 ml Day 2 45 Day 3 45 10:00 40 ml 45 90 13:00 90 ml 70 65 16:00 55 ml 75 50 19:00 90 ml 50 100 22:00 60 ml 80 80 Guide to colour: • Black: nothing added • Red: starts to add only 1 scoop in 90 cc (1. so she is encourage to add less (starting at 1% and to increase the amount until acceptance).5 kcal W.01 kg) + 4. The mother reports that the baby is not accepting the amount prescribed.5 g 485 ml + 6 g + 11.2 g (each pot of different brands has its own measure) The mother is recalled for the following week and asked to register what the baby eats to evaluate progress.6 (activity) = 351.555) -1.6 g 3 sc 6g 5 sc *1 scoop (sc) = 1. (h): 94% x 1.5 sc 5% 3g 2. 3:00 45 ml 55 55 Total intake 430 ml + ~4. This makes up to a total intake of 129 kcal/kg/d.5 sc 90 cc 2.42 g 420 ml + 3 g + 5.7 g ~2 sc 4.3–1.68 kcal/ml ≈ 245 kcal ≈ 61 kcal/kg/day Analysis Adjust the diet with a nutritional module (Duocal®) of carbohydrates and lipids: first at 3% to increase to 5%: Quantity Percentage 60 cc 3% 1. .9 kcal).3%) of the nutritional module • Green: start adding 2 scoops (3%) • Blue: starts adding 3 scoops (4%) The baby is still not getting the calorie amount she needs so add some MCT oil first at 1% to be raised at 2–3% (1 ml = 8. HC: 39 cm (P10) • Requirements*: – Energy: 125–131 kcal/kg/day *Schofield: (3 months) – Protein: 10 g per day 0.5 cm (<P3). Z (height): –2.281 x h (0.5 (<P3) x stress (1.010 kg (<P3). 6x of 60 cc of infant milk 360 ml x 0.11 (<P3).8 g *1.5) ≈ 500– 527 kcal Food intake: The baby is fed by formula as breast-feeding was unsuccessful. 3 months old.5 g ~4 sc 120 cc 3.I. The mother continues to offer breast-feeding. (w): 77%.
3–1. .518 +1. medulloblastoma Chemotherapy has been initiated.65 min x 239 kcal = 758.5) = 1500–1700 kcal Food intake: The patient shows a decreased appetite. Usual weight (4 months before): 17 kg (P50) • Height: 100 cm (P25) • Requirements*: *Schofield: (4 years) – Energy: 1500–1700 kcal.730 = – Protein: minimum 30 g/day 0.Paediatric clinical dietetics 151 Case B: Supplementation with common foods Male. Future possible adaptations may require the use of oral commercial supplements.9266 + 0.95) + 1. Z (height): 0. 4 years old. Diet – register: 24 recall: Breakfast: Glass of milk (200 ml) Small muffin (30 g) Mid-morning snack: Nothing Dinner: Chicken soup (200 cc) + 20 g of pasta Steak (60 g) 1 fromage frais (60 g) Mid-afternoon snack: Nothing Supper: Creamed courgette (150 g) Fish in batter (50 g) 1 pear Possible diet adaptations Breakfast: A glass of milk (150 ml) + cocoa powder (15 g) A small muffin (30 g) + marmalade (15 g) Mid-morning snack: Peanuts (25 g) Dinner: Chicken soup (200 cc) + 20 g of pasta + 30 g egg Steak (60 g) + breadcrumbs (15 g) + oil (5 cc) 1 fromage frais (60 g) + milk powder (5 g) Mid-afternoon snack: Milkshake (banana 50 g + ice-cream 60 g + hazelnuts10 g) Supper: Creamed courgette (150 g) + parmesan cheese (10 g) Fish in batter (50 g) 1 pear + condensated milk (20 g) Analysis of food intake: Energy intake: 750 kcal Protein intake: 34 g 18% 39% 43% Carbohydrates Lipids Proteins Analysis of food intake: Energy intake: 1485 kcal Protein intake: 56 g 15% 42% 43% Carbohydrates Lipids Proteins The boy will attend the outpatient clinic to be continuously assessed. with several visits to hospital.545 h (0. The boy has mild anorexia and presents with weight loss. although still maintains some intake. 130–150 Kcal/kg/day 0.72 kcal WI (w): 94%.082 x w (11. as well as during hospitalization.3 kg) + 0.5 (activity) = 1138 kcal BMI: 15 (<P10–25) x stress (1.1746 Z (weight): –1.730 = 3. WI (h): 98% x 1. Nutritional assessment • Weight: 15 kg (P25).03.
5 g/d.2 g/d 71 cm Carb 16 g/kg/d 128 g/d Oral diet: (201 kcal/8. Then a gastrostomy is set to meet requirements enterally and to stimulate bile secretion. according to his weight. h = 71 cm PN. Carbohydrates: 78 g Carbohydrates (g) .4 g/kg/d 720 kcal 24 g/d 11.5 g lipid/32. 26 g Lipids: 1. The boy leaves hospital with home parenteral nutrition (HPN) 7 days/week and with an elemental milk formula orally.5 cm Energy Protein Lipids Carb 90 kcal/kg/d 3 g/kg/d 1.4 g/d 96 g/d Oral diet: (609 kcal/16.45 g Carbohydrates: 21 g/kg/d. elemental milk formula (15%) + gluten free cereals (5%) 60 cc cereal purée 100 cc potato + carrot + 30 g chicken purée Total intake: 1149 kcal = 188 kcal/kg/d 34 28 160 12 months: (PN in 14 h) w = 8 kg.45 Proteins (g) 250 cc savoury mashed purées (50 g protein portion) Lipids (g) 294 Energy: 523 kcal. elemental milk formula (15%) + gluten-free cereals (5%) 60 cc cereal purée 100 cc potato + carrot + 40 g chicken purée Total intake: 921 kcal = 115 kcal/kg/d 32 28 160 Proteins (g) Lipids (g) Carbohydrates (g) Proteins (g) Lipids (g) Carbohydrates (g) The gastrostomy is set at 16 months as the child following rehabilitation continues to refuse food. Enteral and parenteral feeding supplementation Estudio Longitudinal de Crecimiento.4 g protein/16. h = Energy Protein Lipids 90 kcal/kg/d 3 g/kg/d 1. (Bilbao-España) Male. • Plotting on the growth charts is essential for performing the nutritional assessment. Curvas de 0 a 18 años Instituto de Investigación sobre Crecimiento y Desarrollo FUNDACIÓN ORBEGOZO.152 Paediatric clinical dietetics Case C. Lipids: 15 g.17 g carb) 1 btl.1 kg. • Requirements are calculated by age. (18 months) w = 10.7 days/week (12 h) Energy: 60 kcal/kg/d.5 g carb) 6 btl. Furthermore keep trying with introduction of new oral food to test tolerance until he is able to decrease and at last (if possible) leave parenteral nutrition.3 kg. h = 63. The intake is very low and he gradually starts refusing any food by mouth at all. Short bowel after an intestinal resection at 2 months due to small intestinal volvulus.5 250 cc cereal purée (with elemental milk formula 15% + cereal 12%) 30. 216 g Total intake: 1140 kcal = 110 kcal/kg/d Gastrostomy: 44.7 g lipid/63. • Close monitoring is desirable (monthly until 1 year and then every 3 months) 7 months: (PN in 16 h) w = 6. 618 kcal Protein: 2.4 g protein/19.5g/d. It is then complementary to HPN. Protein: 18.5 g/kg/d. 15.4 g/kg/d 16 g/kg/d 540 kcal 18 g/d 8. 2 years old.
Middle arm circumference (MAC) 16. fish. grapes). *Tricks given to the mother • Adding fruit to the cereals at breakfast or to yoghourt. and advised on the correct diet. homemade marmalade or stewed fruit). • Making fruit salads. apple) or cooked (e.g.g. Weight: 20 kg. quiches. onion. • Adding lettuce and/or tomato to sandwiches. Always following the dietetic recommendations on healthy diet. treated. • Make homemade ice-creams with natural fruit juices.g. • Use high fibre carbohydrates (cereals. encopresis. In case they are not liked mix them.Paediatric clinical dietetics 153 Case D: Nutritional education Male. Ministerio de Sanidad y Consumo. 2006 Several times daily + Water Healthy life-style . • Cooking meat.17 cm. leek. The mother is concerned about the child’s diet as since her divorce he is more reluctant to eat certain types of foods. Height: 1.g. Occasionally Several times a week Courtesy Estrategia NAOS. • Adding grated vegetables to sauces (e. She is given advice on the diet with recipes and tricks* to increase the consumption of vegetables and is referred to the outpatient clinic. and courgette to a tomato sauce for pasta). After a month. at the outpatient clinic the child has normalized his bowel movements and the mother reports that the tricks have worked. encouraging the fruit which is liked. • Including vegetables in the making of croquettes. etc. Tricipital skinfold (TS): 6 • Requirements (for age by WHO): 1800–2000 kcal and 24 g of protein The diet is modified during hospitalization so the child gets a personalized high fibre diet. The diet is explained to the child to make him participate. Gobierno de España. After resolving he is discharged to the outpatient clinic. 7 years old. bread. meatballs.4. Before discharge the child is assessed. This can be in pieces (e. grated (e. pasta). or pulses stews with vegetables. If not tolerated purée in the sauce.
However. Fjeld C. 2001. In: Understanding Normal and Clinical Nutrition. Rolfes SR. Beaton G. References 1 Martin EA (ed). Bases para una alimentación complementaria adecuada de los lactantes y los niños de corta edad. Act Pediatr Esp 2003. Elia M. The nutrition care process: assessing anthropometric and biochemical data. In: Garrow JS.52(Supl. An Pediatr (Barc) 2006.39C(Suppl):5–41. 9 Dewey KG. 543–58. Spain. James WPT. Oliveros L. Clinical Paediatric Dietetics. Nutrición enteral y parenteral en pediatría. 2003. 10th edn. 10 www. 8 Schofield WN. Jonkers-Schuietema CF. Carrascosa A. 5 Shaw V. Galiano MJ. Eur J Clin Nutr 1996. Oxford. 12 Wilken B. 2nd edn. An Esp Pediatr 2000. 3rd edn. Disease-Related Malnutrition: An Evidence-Based Approach to Treatment. Belmont. Oxford 1998. 2000. Severe malnutrition. Nutrición en la Infancia y Adolescencia. JP. South Asia J Trop Med Pub Health 2003. 11 Martinez Costa C. Clinical Nutrition1999. from advice to food provision. and their role is not simply dispensing a particularly diet but to provide effective nutritional care.34(3S):198–201.65(5):481–95. 2nd edn. Wadsworth Publishing Company. 2006. Ralph A (eds). 13 Howard. There are many examples where the use of dietetics in the clinical setting is essential. Concise Medical Dictionary.18(6):379–83. Pedrón Giner C. . Golden BE. Blackwell Science. Gil Hernandez A. 515–26. 4 Golden MHN. Standards for specialized nutrition support: hospitalized pediatric patients. Nestle Nutrition Institute. The role of the nutritional support dietitian in Europe. 6 Whitney EN.3):1–33. An effective nutritional support service relies heavily on dietetic expertise to optimize patient care. CABI Publishing. pp. new standards and review of previous work. pp.50(1):119–47. Human Nutrition and Dietetics.20(1):103–16. Predicting basal metabolic rate. et al. standards of practice vary significantly throughout Europe13. Oxford. Protein requirements of infants and children. Hum Clin Nutr 1985. 1998.61(8):406–12. Sierra C.96:1019–22. Nutr Clin Pract 2005. Cómo enriquecer la alimentación del lactante: Uso de los módulos nutricionales. 7 Ballabriga A.org Further reading ASPEN Board of directors.fao. Dietary fibre for children: how much? Pediatrics 1995. Lawson M. Kyle U.154 Paediatric clinical dietetics Conclusion The dietitian is part of a multidisciplinary team who takes care of the patient. Edinburgh. 5th edn. Oxford University Press. et al. 3 Stratton RJ. Many dietetic skills are unique and cannot be undertaken by other professionals. 2 Moreno JM. different approaches. Green CJ. An introduction to nutritional treatment in inborn errors of metabolism: different disorders. Cataldo CB. Churchill Livinsgstone. Dwyer J.
coffee-ground 16. 56. perianal 111 food allergy/intolerance 51 classification 65–6 clinical symptoms 66–7 diagnosis 32. 5–7 management 5. abdominal 81. normal mechanisms 35 dehydration. 94–5 alpha fetoprotein (AFP) 73. 68 management/prognosis 68–71 Crohn’s disease 110 aetiology 110–11 diagnosis 29. benign 81 gastric emptying scintigraphy 49 gastric hyperacidity 120 gastric lavage 58 gastric masses/tumours 75–6 gastric mucosa. 14 galactosaemia 91 gallbladder. 51 Gilbert syndrome 86 growth. 67. liver 72–3 haematemesis 56. 8 capsule endoscopy 28–30. 153 cow’s milk allergy 31–2. 49 gastrostomy 120. 80. 68 management 68–71 transient 31–2 food diary 149. atopic 66 desensitization 71 diarrhoea acute 19–24. 13. 96 adrenocortical carcinoma 82 Alagille syndrome 86–8. 138 Apt-Downey test 59 Ascaris lumbricoides worms 54 ascites 90. infant 36. 26. 52. 53. 115 caloric intake 4. 75 biliary atresia 90. 41 Barrett’s oesophagus 12 behavioural modification 44 bezoars 54. 48. 139–41 appendicitis. 148 failure to thrive 1 normal variation 4. porcelain 54 gallstones 52 gamma glutamyl transpeptidase 92. causing acute diarrhoea 20 bacterial overgrowth syndrome 31 barium enema 40. prolapse 59 gastritis. 92. 58. 111 chronic 25–30. 100. 113 faecal disimpaction 44 faecal laboratory study 22 faecal occult blood test 38 failure to thrive (FTT) aetiology 3–5 classification by pathological cause 4 definition 1. 54. 92. Nissen 14. intra-abdominal 142 acanthosis nigricans 95. 88 alanine aminotransferase (ALT) 92. 67 alpha-1-antitrypsin deficiency 90–1. 96 anaemia. functional 48–9. 65–6 diagnosis 67–8. 67–8. 59–63 assessment 56–7 diagnosis 57–8. 36. causing stool/emesis staining 57 formulas cow’s milk allergy 69–70. 82 aminosalicylate 115 aminotransferases 92. 50 Echinococcus granulosus 72 emesis. 63. 85 parenteral nutrition 118. 62 intractable of infancy (IDI) 30–1 toddler’s 30 diet after acute diarrhoea 23 assessment 149 in failure to thrive 8–9 in functional constipation 44 gluten free 102–3 parental guidance 9. 52. 51. 14 anti-Saccharomyces cereviseae antibody (ASCA) 106. 120. 119 benign recurrent intrahepatic 89 biliary atresia 90. 91 childhood 86 infancy 84–6. 82 constipation definition and aetiology 34 diagnosis 38–42 differential diagnosis 34 functional 34–5. 2–3 evaluation of child 3. acute 134–8. 91 bladder tumours 79 bleeding. 43 compartment syndrome. 92. 14. 59 encopresis 35. 3. 91 aspartate aminotransferase (AST) 92. 153 enteral formulae 144–5. intestinal 132 dyschezia. 57 haematochezia 56. 152 enterocolitis. 103 epidemiology and genetics 99 latent 100 pathology 29. 145 fresh-frozen plasma 64 functional gastrointestinal disorders (FGID) 48–54 fundoplication. 96 ganglioneuroma. 77 colonic transit study 41–2. 4 specific syndromes 5 haemangioma. 149 food intake data. 55 colitis infectious 62 see also ulcerative colitis colon biopsy 42 congenital atresia 133 tumours 76. 52 abscess. 96 bacteria. see gastrointestinal bleeding blood transfusion 63–4 blood urea nitrogen (BUN) 58 B-lymphoma 76. 36 dysgerminoma 80 dyspepsia. assessment 146 body mass index (BMI) 148 bowel lengthening. 145 enteral nutrition 9.155 Index Note: Page numbers in italic refer to content of tables abdominal migraine 50. 69 enteral 144–5. procedures 121–2 bowel obstruction 12. 142 breast feeding 68 budesonide 109. 101 diagnosis 102. necrotizing 59 enteroplasty 121 epistaxis 57 Epstein-Barr virus 76 faecal calprotectin 106. 118. 89 cirrhosis 97 coeliac disease 99 clinical features 7. 9 dietetics defined 144 interventions 149–53 domperidone 14 Down syndrome 5 drugs antidiarrhoeal 23–4 causing gastritis 62 hepatotoxic 93 duodenal atresia 130 duplications. 101. infant 54. 117. 54. 111–15 management 115 cystic fibrosis 38 defecation. nutritional requirements 145–6 growth curves 2. 115 carbohydrate intolerance 26 carbohydrate malabsorption 32 casein proteins 66 central venous catheters 119 challenge tests 32 choledocal cysts 72 cholestasis 84. analysis 149 foods. assessment 21 dermatitis. 37 management 42–5. 114 appendectomy 134. 92. 9 fistulae. iron deficiency 113–14 anorectal malformations 125–6 anorectal manometry 38–40 anthropometry 146 antigen-presenting cells 65 anti-neutrophil cytoplasmic antibody with perinuclear staining pattern (pANCA) 106 antireflux surgery 14. 66 . 77 body composition. 99–100 treatment 102 colectomy 109 colic. 145 giardiasis 26. 57 epidemiology 56 treatment 63–4 gastro-oesophageal reflux 12. 119 progressive familial intrahepatic 88. 8–9 outcomes 9 Fallot tetralogy 87 familial polycystic kidneys 76–8 feeding behaviours 9. drug-induced 62 gastroenteritis management 25 viral 19–20 gastrointestinal bleeding aetiologies 58. 96 albumin 147 allergologic tests 67–8.
feeding nutritional education 153 nutritional modules 144. 75 tyrosinaemia. endoscopic 64 hamartomas. see failure to thrive. 59. 25 ovarian cyst 54 ovarian tumours 79–80 pain. 147 normal gain 1–2. 20. 94. 97 hypoalbuminaemia 114 ileostomy. terminal 118 ileum. annular 133 pancreatic cysts 76 pancreatic insufficiency 26 pancreatitis. 26. 105 undernutrition. 85 see also cholestasis jejunal mucosa. 77 immune responses. perianal 111 small bowel resection 115 adaptation process 117–18 small bowel stenosis 111. 55 infantile hypertrophic pyloric stenosis 16. 124. 127–8 treatment 129 hydatic cysts 72 hydrocortisone 109 hydronephrosis 78 hygiene. 58 haematuria 78 haemochromatosis. 20 liver disease 92 vomiting 11. 125 melena 56. 145 necrotizing enterocolitis 117 nephroblastoma (Wilms’ tumour) 78–9 nephroma. 43 techniques to slow 121 trichobezoar 54. 53. 87 pyloric stenosis 16. 23 retinol-binding protein 147 rhabdomyosarcoma 79 rotavirus infections 19–20 Sandifer’s syndrome 12 schwannoma (neurofibrosarcoma) 79 serial transverse enteroplasty (STEP) procedure 121–2 short bowel syndrome (SBS) 117 causes 117 initial management 118–20 surgical treatment 121–3 Silver-Russell syndrome 5 skinfolds 146 skin tags. cystic 76 lymphoma. 82 liver disease acute 93 chronic 57. 144. gastric/oesophageal 60 viral infections acute diarrhoea 19–20. 41. normal newborn 117 intestinal malrotation 129 intestinal obstruction 12. neonatal 91 haemolytic uremic syndrome 61 haemostasis. 60 oral rehydration solution (ORS) 22–3. 50 isotope-tagged meta-iodinebenzyl-guanidine (MIBG) 81 isotopic scintigraphy 78 jaundice infancy 84–6. abdominal 12. 127 diagnosis 38. tumours and cysts 72–5. intestinal 20 parenteral nutrition 118–19. 42. 45 length. prevention of diarrhoea 24 ‘hygiene hypothesis’ 110 hypertransaminasaemia 92–7. congenital 97 height. ulcerative colitis infliximab 109 intelligence quotient (IQ) 9 interferon 73 intestinal duplications 132 intestinal length. 115 infant colic 54. 96 nutrition assessment 146. 53 alarm symptoms 47 functional syndrome 53. 14. 2 Wilms’ tumour 78. 44. 106 inflammatory bowel disease (IBD) diagnosis 27 see also Crohn’s disease. 118. malnutrition uretero-pyelic junction. liver 73 heart disease. 120 jejunum. 119 liver transplantation 74. 150 octreotide 64 oesophageal atresia 59. 146 Meckel’s diverticulum 61–2. 93 nonalcoholic fatty disease 95–6 in parenteral nutrition 118. 142 intractable diarrhoea of infancy (IDI) 30–1 intussusception 60 irritable bowel syndrome (IBS) 30. 12. 79 Wilson’s disease 92–3 wireless endoscopic capsule 28–30 Yersinia species 63 yolk sac (endodermal sinus) tumour 82 Zellweger’s syndrome 91 zinc 23 . 39. 23. juvenile (colonic) 61 postenteritis syndrome 31 prealbumin 147 probiotics 23 proctitis 105. 17 pyloromyotomy 16. intra-abdominal 76. 96. 92. 12 see also gastro-oesophageal reflux rehydration 22–3. 100 jejuno-colic anastomosis 121 jejuno-ileal atresia 131–2 jejunostomy 118. 17 infant scale 147 infections acute appendicitis 135 causing diarrhoea 19-20. 50. recurrent 52 pancreatoblastoma 76 parasites. 113 small bowel transplantation 122 small villous atrophy 29 soy formulas 69 soy protein 32 steatosis 95. 152 peptic ulcer disease 62–3 phaeochromocytoma 82 pH probe 13 platelet transfusion 64 polyethylene glycol 44 polyps. 104–9. 82 total plasma protein 147 transferrin 147 transit time assessment 41–2. 97 hepatobiliary dysfunction 26 hepatoblastoma 73 hepatocarcinoma 74–5 hiatal hernia 15 Hirschsprung’s disease 37. stenosis 78 urticaria-angioedema 66 VACTERL association 126 varices. 11. tumours 76. 62 colitis 63. non-IgE 65. 17 rectal biopsy 41 rectal bleeding 59 rectal examination. human 66 see also cow’s milk allergy nasogastric tube 9. hereditary 91 ulcerative colitis 62–3. 119 stool frequency 37 stool testing 113 stricturoplasty 121 superior mesenteric artery syndrome 17. 66 immunomodulation therapy 109. mesoblastic 79 neuroblastoma-ganglioneuroma 81–2 nodular lymphoid hyperplasia 59 nonalcoholic steatohepatitis (NASH) 95. 57 Menkes’ disease 145 micronutrients 23 mid arm circumference 146 milk. 149 and growth 145–6 supplementation with common foods 151 see also diet. 128 regurgitation causes and incidence 11. 126–7 oesophageal varices 60 oesophagitis 13. measurement 148 Helicobacter pylori gastritis 62 Henoch-Schönlein purpura 62 hepatitis 93.156 Index haematocrit (Hct) 57. 77 McBurney’s point 134. 146. 147 liver. 81. flattened 99. 75. tumours 76 juvenile polyps 61 kidney cystic 76–8 tumours 78–9 Kimura procedure 121 lactate dehydrogease (LDH) 93 β-lactoglobulin 66 lactose intolerance 51 laxatives 43. 65–6 modification 68–9 pseudopolyps 108 pulmonary artery hypoplasia 86. 18 teratoma 80. 46. 53 neurophysiology 46–7 pancreas. measurement 146. 97 lymphangioma. 17 pyoderma gangrenosum 111. 127–9 clinical presentation 37. 108 prokinetic agents 14 prolapse gastropathy 59 proteins 65 allergic reactions 31–2. digital 38 recto-anal inhibitory reflex (RAIR) 40. 135 magnesium hydroxide 45 malnutrition classification 6 clinical signs 7. 17 weight measurement 146. 112 Ramstedt procedure 16.
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