Evaluating Gastrointestinal Symptoms

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chapter 11 Evaluating Gastrointestinal Symptoms

Mohsin Rashid

To study the phenomenon of disease without books is to sail an uncharted sea, while to study books without patients is not to go to sea at all.

SIR WILLIAM OSLER

Gastrointestinal (GI) symptoms are common in children, and evaluating their complaints can be challenging. This challenge is compounded by the fact that younger patients cannot communicate or localize their symptoms.

No amount of reading can substitute for hands-on practice with real patients. Paracelsus once remarked, “The art of medicine cannot be inherited, nor can it be copied from books.” This chapter offers clinical tips on how to evaluate GI symptoms in infants and children and how to perform a competent examination and arrive at a diagnosis. The focus is on evaluating symptoms and signs, not on investigations or management. Seven common symptoms, representing the bulk of GI complaints in children, are discussed. Of all the possible diseases causing these symptoms, only the more common disorders will be addressed.

Physical Examination of the Gastrointestinal System

Assessment of the GI system should be a component of a complete pediatric physical examination. The history (obtained from the patient and/or parent) should guide you to focus on the most relevant parts of the physical examination. Thoroughness is essential, even for the most experienced clinicians. Remember that a child is not a miniature adult; therefore, do not extrapolate from findings in adults. Clinicians experienced in dealing with children can be an invaluable source of instruction.

General Appearance

Begin your examination by assessing the child’s growth, that is, weight, height/length, body mass index, and head circumference (in infants and toddlers), and plot these values on the appropriate growth charts. “Eyeballing” is not good enough. Sometimes more detailed anthropometric measurements may be required, including mid-arm circumference and skin fold thickness. Sexual maturation should be assessed in older children and adolescents. Recent loss of fat tissue may lead to loose, wrinkled skin, especially notable in the groin and as flattening of the buttocks. Peripheral edema may suggest hypoalbuminemia from a protein-losing enteropathy and/or poor nutritional intake.

Poor growth is an important feature of many organic GI diseases and usually rules out a functional disorder. Growth failure can be the result of inadequate nutrient intake (as in Crohn’s disease) or malabsorption (as in cystic fibrosis and celiac disease). Adequate growth is reassuring but does not necessarily rule out an organic GI disorder.

The child’s general appearance and behavior can provide important clues to the cause and severity of the problem. Anorexia and pain/irritability are common in many patients with acute and chronic GI diseases. Sudden, marked irritability with intense crying in an infant, especially when intermittent, should raise the possibility of intussusception. An ill child is often withdrawn, irritable, maintains poor eye contact, and is not interactive or interested in the surroundings. These signs are especially significant in infants and toddlers whose verbal communication may be limited. A toddler with fever and vomiting who is running around the emergency department with a bottle of juice is unlikely to have an acute abdomen.

Eyes

Examine the child’s eyes for pallor, redness, and jaundice. Early jaundice is best detected as a yellow discoloration of the sclera. It becomes clinically visible once the total serum bilirubin exceeds 34 μmol/L (2 mg/dL). Careful observation in natural light is needed to detect early jaundice. As the bilirubin level rises, jaundice becomes more obvious. It sometimes can be mimicked by a benign condition known as carotenemia, which imparts a yellow-orange color to the skin but does not involve the sclera. Carotenemia often can be seen in the palms of the hands as well.

Various eye lesions, particularly episcleritis and uveitis, can be associated with inflammatory bowel disease.

Pallor

Look at the palpebral conjunctiva for early signs of pallor. In more marked pallor, the skin, mucous membranes, and nail beds also may appear to be pale. Anemia should never be diagnosed based on the presence of pallor alone, because some children look perennially pale due to relatively unpigmented skin, which is usually a familial phenomenon. Anemia is a laboratory diagnosis and requires hemoglobin measurement. Anemia occurs in several GI disorders in which there is impaired absorption or loss of iron. Such conditions include celiac disease, inflammatory bowel disease, reflux esophagitis, and peptic ulcer.

Clubbing

Clubbing of the fingers is an abnormal enlargement of the distal phalanges with loss of the normal angle between the nail and the nail bed. In advanced clubbing, the entire distal finger is thickened (giving it the appearance of a drumstick). Clubbing is often symmetrical but can be unilateral or even involve only a single digit. Advanced clubbing is obvious, but early clubbing may be harder to diagnose. The Schamroth window test can be used to diagnose early clubbing. When the distal phalanges of corresponding fingers of the opposite hands are directly apposed, a small diamond-shaped “window” is normally apparent between the nail beds. Clubbing is present if this window is obliterated.

Clubbing typically is associated with cyanotic heart disease or chronic pulmonary disease but sometimes is seen with malabsorptive disorders (e.g., cystic fibrosis and celiac disease) in patients with hepatic cirrhosis and inflammatory bowel disease. It also may occur without any underlying disease as an idiopathic phenomenon or as a Mendelian dominant trait.

Oral cavity

Examine the mouth of any child with abdominal complaints. A child with acute tonsillitis may present with fever and abdominal pain. The combination of enlarged tonsils and a big spleen can help clinch the diagnosis of infectious mononucleosis.

Assess the mouth for caries and gingival disease. Defects of dental enamel can occur in patients with celiac disease and may be the sole manifestation of this disorder in young children.

Oral aphthous ulcers are common in children and often are idiopathic. Acute ulcers may be due to viral infections. Recurrent oral ulcers should raise suspicion of Crohn’s disease or celiac disease.

Examination of the oral cavity can be uncomfortable, so it is best left until the last part of the physical examination.

Case History

Case 1

10-year-old David had recurrent, painful oral ulcers for several months, causing him difficulty in eating and drinking. He had no other symptoms and normal growth. A dental surgeon eventually biopsied the aphthous ulcer, revealing chronic inflammation and noncaseating granulomas. Further investigation confirmed Crohn’s disease, the treatment of which led to prompt resolution of the oral ulcers.

Skin Examination

Various skin lesions can occur in children with GI diseases. Purpuric lesions on the buttocks and legs in a child with acute abdominal pain should raise the possibility of Henoch-Schönlein purpura. Erythema nodosum and pyoderma gangrenosum can occur in patients with inflammatory bowel disease. The lesions of erythema nodosum appear as bluish-red, tender, variably sized, poorly defined nodules, usually limited to the extensor aspects of the lower legs. They can resemble bruises. Classic pyoderma gangrenosum is characterized by deep ulceration with a violaceous border that overhangs the ulcer bed. The lesions most commonly occur on the legs near the ankles but may occur anywhere on the body.

Palmar erythema can occur in persons with chronic liver dysfunction, even in infants. Spider angiomas can be seen in older children with chronic liver disease. They can be subtle and may be limited to certain parts of the body.

Examination of the Abdomen

Examine the abdomen systematically. The child should be lying flat and supine, arms by the side, and feet together. The abdominal muscles are most relaxed in this position. The knees can be flexed if this position helps the youngster feel more comfortable. A pillow under the head also may be used. Infants and toddlers who may resist lying down can be examined while sitting on the parent’s lap. It is futile to attempt abdominal palpation in a youngster who is upset or crying. Try to gain the child’s cooperation. Otherwise, defer the examination and try again when the child is quiet or asleep. Infants are best examined after feeding.

The abdomen should be fully exposed. Older children and adolescents should be in a gown, or a sheet can be used to cover the body. Examination of the inguinal region, external genitalia, and perianal area (in select cases) is part of the abdominal examination, especially in infants who cannot localize their symptoms. For example, an infant presenting with acute onset of irritability, poor feeding, and vomiting may have a strangulated inguinal hernia. Examination of external genitalia is especially important in male patients because a variety of testicular and penile lesions can occur. A toddler with testicular torsion may present with severe abdominal pain and be unable to localize the pain. Often physicians are hesitant to examine the external genitalia in children, especially if the complaint is not directly linked to that region. However, serious diagnoses can be missed if the relevant areas are not specifically examined.

Case History

Case 2

14 year-old Lucas came to his family physician with a poorly demarcated, indurated, nontender swelling on the left forehead. The patient had no other complaints. Two courses of antibiotics for presumed cellulitis failed to resolve the problem. An experienced pediatrician conducted a thorough physical examination and discovered a large testicular tumor (seminoma). The swelling on the forehead was due to a secondary bony deposit from the malignant tumor. The boy confessed that he had been aware of the testicular mass for some time but was too embarrassed to tell anyone.

When examining a child with acute abdominal pain, it often is necessary to decide whether the child has a problem requiring surgery (i.e., an acute abdomen). Surgical disorders often present with a shorter history, and the most common cause of an acute abdomen in children is appendicitis. Disorders presenting with acute abdomen are discussed in more detail in Chapter 12.

Abdominal examination should follow the classical sequence, that is, inspection, palpation, percussion, and auscultation. The basic rule is, “Look first, touch later.” Some adult gastroenterologists recommend that auscultation be performed before palpation or percussion on the assumption that bowel sounds induced by palpation may mask vascular bruits. However, for some young children, the stethoscope can be intimidating if used at the beginning of the abdominal examination.

To describe the location of any abnormality, it helps to divide the abdomen into four quadrants with a horizontal line through the umbilicus and a vertical line from the xiphoid process to the symphysis pubis through the umbilicus. For infants and younger children with smaller abdomens, this division should suffice. For older children and adolescents, the abdomen can be divided into nine regions by including two additional vertical lines from the mid-clavicular area to the mid-inguinal point and two horizontal lines through the subcostal margins and the anterior iliac crests (Figure 11–1).

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FIGURE 11–1 Division of the abdomen into nine regions.

Inspection

Simply looking at the abdomen can provide important clues to the underlying diagnosis. Is it flat, distended, or scaphoid? Distention can be caused by air in the intestine, fluid in the abdominal cavity (ascites), or solid organ enlargement. Healthy toddlers often have a normally protuberant abdomen as a result of physiological increase in lumbar lordosis. Do not mistake this appearance for pathologic distention. Abdominal distention is an important sign of intestinal obstruction. The lower the obstruction in the gut, the more marked the distention. Also, associated symptoms will be present, including vomiting and abdominal pain/irritability. Peristalsis may be visible through the abdominal wall in patients with intestinal obstruction. This peristalsis is most commonly observed in the upper abdomen in infants with hypertrophic pyloric stenosis. A depressed (scaphoid) abdomen in a newborn suggests a diaphragmatic hernia with some abdominal organs sitting in the chest cavity.

Umbilical hernias are common in infants. In some ethnic groups, they are virtually universal. Umbilical hernias are reducible and, although they are sometimes quite large in size, they typically resolve without treatment during the first few years of life. Slight separation of the rectus abdominis muscle (diastasis recti) is normal in children, especially in premature infants.

Scar(s) on the abdominal wall will confirm previous surgical intervention. Information regarding previous operations usually is available in the history; however, operations in the remote past may be forgotten. With laparoscopy now being the preferred technique for most abdominal operations, scars may be minimal and difficult to locate.

The abdominal wall normally moves with respiration, especially in infants. Loss of this movement secondary to pain can be an important indicator of abdominal inflammation, such as peritonitis.

Abdominal symmetry is best assessed by inspection from the foot of the bed. Asymmetry can result from an intraabdominal mass. Bulging of the flanks can occur in patients with ascites.

Examine the inguinal area for swelling. Indirect inguinal hernias are common in children and always require surgical correction. A reducible hernia may not be obvious in the supine position. Older children should be examined standing up. Increasing the intraabdominal pressure by coughing or straining makes the swelling more obvious. Small, nontender, soft, mobile inguinal lymph nodes are common in children. They can be bilateral and often are benign. Check for abnormal lymphadenopathy elsewhere (e.g., the axilla).

Examine the back, because diseases of the spine may present with abdominal symptoms. A tuft of hair in the midline often is a clue to an underlying congenital spinal abnormality (e.g., diastematomyelia) in a child with chronic constipation.

Palpation

A relaxed abdomen is essential for palpation. Your hands should be warm and your touch gentle. The child should not laugh or giggle during the examination. The child’s attention should be diverted by conversation or by asking him or her to look at something on the ceiling.

Use superficial palpation to detect areas of tenderness. Watch the child’s face for any expression of discomfort. If the child presents with complaints in a specific area, begin palpation away from that area, then move gradually toward the site of pain. Check for guarding and rebound tenderness whenever you discover an area of tenderness on palpation. Deep palpation should be followed by quick release of pressure. If the patient has more pain when the hand is released, rebound tenderness is present. Rebound tenderness is an important sign of peritoneal irritation but can be difficult to demonstrate in very young children.

Deeper palpation should follow to detect any masses or organ enlargement. By far, the most common abdominal mass in children is retained stool. In newborns, a large mass is usually of renal origin. Fecal masses can be felt in the hypogastrium and left lower quadrant. Sometimes their massive size can be alarming. Fecal masses often are indentable and nontender. Ovaries normally are not palpable in healthy girls. The possibility of pregnancy should always be considered in any pubertal female with abdominal symptoms. You can get your hand above an ovarian or uterine mass, confirming its pelvic origin.

The liver, spleen, and kidneys should always be palpated.

Liver

Always begin your palpation in the right iliac fossa so as not to miss the edge of a massively enlarged liver. The axis of your hand should be directed toward the right costal margin and at right angles to it. Rest your fingertips on the abdomen and gently depress them intermittently, without poking (Fig. 11–2). The child’s respiratory excursions will bring the liver down to make contact with the fingers (you don’t feel it; it feels you). One or both hands (one on top of another) may be used. Advance your fingers upward toward the costal margin in 1- to 2-cm increments.

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FIGURE 11–2 Palpation of the liver.

If you can palpate the liver edge, confirm its edge by percussion. Record any hepatomegaly as centimeters below the costal margin, not in finger breadths. Palpate the epigastrium, because isolated enlargement of the left lobe (because of a tumor or cyst, for example) may be present.

The liver may be palpable either because it is enlarged (hepatomegaly) or because it has been displaced downward by thoracic deformities or by flattening of the diaphragm, for example, by a large, right-sided pleural effusion or lung hyperinflation (e.g., bronchiolitis). Measuring the liver span gives a good estimate of its size. It also helps distinguish between enlargement and displacement. The lower border of the liver should be marked. Start percussion for the upper border from the third intercostal space and move down one intercostal space at a time. The finger should be in the intercostal space parallel to the ribs. The distance between the upper and lower borders (span) should be measured in the mid-clavicular line. Use of the “scratch test” to define the lower border of a nonpalpable liver is not useful in children.

The liver often is palpable 1 to 2 cm below the right costal margin in normal infants and toddlers. Its edge is usually soft, and it moves downward with respiration. The liver edge is often palpable in healthy children and adolescents. A nonpalpable liver does not rule out hepatomegaly but certainly reduces its likelihood.

Liver span in children is related to age and body weight, with a considerable range. As a rough guide, the liver span ranges from 6 to 12 cm in children 6 to 12 years of age. In infants up to a year of age it is 6 to 10 cm. A palpable liver with a normal span implies displacement rather than enlargement. Measuring span is important when the liver is palpable. In a patient with a shrunken, cirrhotic, nonpalpable liver, span would be difficult to measure because the lower border cannot be identified easily. Estimation of liver span caries considerable observer error and can be difficult in female adolescents, in whom breast tissue can make percussion of the upper border unreliable. Ultrasonography gives a good estimate of liver size.

The liver texture can give clues to the cause of hepatomegaly. An enlarged, soft liver is due to inflammation or congestion. A firm liver may represent fibrosis, metabolic disease, or primary or secondary malignancy.

Hepatomegaly can occur from many different causes, including:

• Acute infection (e.g., hepatitis A, mononucleosis)
• Chronic infection (e.g., hepatitis B and C)
• Inflammation (e.g., autoimmune hepatitis)
• Metabolic disorders (e.g., Wilson disease, α-1 antitrypsin deficiency)
• Vascular congestion (e.g., congestive heart failure, hepatic vein obstruction)
• Fibrosis (e.g., congenital hepatic fibrosis)
• Infiltrative disorders (e.g., leukemia, neuroblastoma)
• Storage diseases

Spleen

The spleen tip is palpable in about 10% of healthy children and often is palpable in newborns. In infants, the spleen enlarges downward toward the left lower quadrant, whereas in older children enlargement is toward the right lower quadrant. Palpation should begin in the right iliac fossa so as not to miss a very large spleen (Fig. 11–3). Be gentle, because an enlarged spleen could rupture if too much force is applied. Size should be recorded in centimeters below the left costal margin.

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FIGURE 11–3 Palpation of the spleen.

If the spleen is not palpable with the child supine, turn the child into the right lateral decubitus position. With your left hand lifting the lowermost portion of the left rib cage and flank anteriorly, your right hand should be used to feel the spleen tip on inspiration. In subclinical splenomegaly, other provocative maneuvers may be tried. Castel sign involves percussing the lowest intercostal space in the left anterior axillary line. Normally this area is resonant and should stay so during inspiration. An older child can be asked to take a deep breath while percussion is continued. A change from resonance to dullness suggests splenic enlargement.

Occasionally, it may be difficult to differentiate splenomegaly from a massively enlarged kidney. With an enlarged spleen, one cannot get above it, a notch may be felt along its medial border, and the percussion note over it will be dull.

Is a palpable spleen abnormal in a child? It depends on the clinical context. An enlarged spleen is present in many patients with chronic hemolytic disorders. Sickle cell anemia is an exception because the spleen atrophies over time as a result of repeated infarctions. Splenomegaly is an important finding in portal hypertension from any cause. If an enlarged spleen is present along with hepatomegaly, consider infections, infiltrative disorders, or storage disorders.

Kidneys

Kidneys are rarely palpable in healthy children. A kidney may be enlarged because of an obstruction (hydronephrosis), an infection, a cyst, or a tumor. Bilateral renal enlargement suggests either polycystic kidneys or bilateral obstructive uropathy due to posterior urethral valves.

Kidneys are retroperitoneal and deep and are best palpated bimanually. With the child supine, place one hand in the renal (costovertebral) angle, beneath the twelfth rib and just lateral to the erector spinae (Fig. 11–4). Place your other hand anteriorly, just lateral to the rectus abdominis, in line with and parallel to the first hand. Ask the child to take a deep breath. Immediately at the end of inspiration, press your front hand firmly back against the other hand. A quick upward movement of the fingers of the hand in the renal angle is made (ballottement), and the kidney is trapped between the two hands. Unless the kidney is massively enlarged, successful renal palpation requires considerable experience. The percussion note over the kidney will be resonant because of overlying intestine, which helps differentiate it from the spleen or liver.

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FIGURE 11–4 Palpation of the right kidney.

Renal angle tenderness often is associated with renal disease. The heel of the closed fist is used to strike the patient gently over the renal angles to check for tenderness.

Rectal Examination

There are few indications for doing a rectal examination in children. It is rarely required in children with constipation because the diagnosis often can be made from the history and abdominal palpation. Perianal inspection may be indicated in cases of rectal bleeding and suspected Crohn’s disease. Children do not get hemorrhoids.

If a rectal examination must be performed, it should be done systematically. Consent from the parents and assent from the child is essential. Some institutions may require a written consent for a rectal examination. The procedure should be explained in detail. If the child refuses, do not insist. The examination should not be attempted in an uncooperative child who is crying and struggling; not only would it be traumatic, but it would be virtually impossible to do an adequate digital rectal examination under such circumstances. The privacy of even the youngest children should be respected. A nurse should be present to assist in proper draping of the patient. The parent stands on the head side of the bed to provide comfort.

In older children, a rectal examination is best performed with the child in the left lateral position with the spine and knees fully flexed. Infants and younger children can be examined in a knee-chest position. The examination should be conducted systematically. Presence of stool in the underwear implies fecal incontinence, most likely from encopresis. Examine the perianal area for excoriations, skin tags, or fistulae. Sentinel skin tag(s) overlying a chronic anal fissure in older children are pathognomonic of Crohn’s disease (Fig. 11–5). The buttocks should be gently spread to look for any anal fissure. Acute anal fissures occur from passage of large, very hard stools. Digital rectal examination in such cases is painful and unnecessary. Acute anal fissures often are difficult to view because there is considerable spasm of the anal sphincters, and the child does not relax enough for good visualization. The diagnosis is best made by history.

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FIGURE 11–5 Perianal sentinel skin tags and underlying fissure is diagnostic of Crohn disease.

Next, check the anal reflex (wink). Stroking the perianal skin close to the anal verge causes contraction of the anal sphincter, similar to the cremasteric reflex. Absence of the anal wink should raise suspicion of an underlying neurologic impairment. A well-lubricated forefinger is then introduced in the rectum. In infants, the little finger should suffice. The anal squeeze is normally felt. A patulous anus is seen in patients with encopresis or neurologic disorders. Is the rectal cavity empty or full of stool? Is the stool hard? Is any other mass present? The normal rectum should be empty with a smooth wall. In functional fecal retention, the rectum contains a large mass (fecaloma), which often can be indented. An empty rectum in the absence of recent defecation and a background history of chronic constipation should raise suspicion of Hirschsprung disease. Finally, the finger should be withdrawn to look for the presence of blood.

Case History

Case 3

15-year-old Emily was diagnosed with an eating disorder by her family doctor and pediatrician. She had presented with severe weight loss. Her appetite had decreased but she denied abdominal pain, vomiting, or diarrhea. She was markedly wasted, with height at the 25th percentile for age and weight, significantly below the third percentile. She was admitted to the psychiatric ward of a pediatric tertiary care hospital for further management. A referral was made to the gastroenterology service. Physical examination revealed large perianal skins tags and an underlying anal fissure. A perianal examination had not been performed previously, delaying the diagnosis of Crohn’s disease by months.

Percussion

Percussion of the abdomen helps to detect free fluid and to determine whether distention, if present, is due to gas, a solid tumor, or ascites. Gas produces a resonant note. In liver and spleen enlargement, the degree of organomegaly can be confirmed by percussing the lower edge. The measurement should be recorded in centimeters below the costal margin in the midclavicular line.

When percussing for organomegaly, the resting finger should be parallel to the edge of the organ being examined. Contact with the skin should be gentle. Percuss by gently tapping the middle finger of the right hand against the finger in contact with the skin. The movement of the hand should be at the wrist, not the elbow. A dull note implies that the underlying mass is solid or filled with fluid.

Shifting dullness and fluid thrill (wave) are clinical signs that confirm ascites. Free fluid will flow to the dependent part of the abdominal cavity, while the gut filled with air will float in the middle. If the child is supine, the fluid collects posteriorly and in the flanks. The percussion note, therefore, will be resonant in the center and dull in the flanks. Starting in the middle, the percussion is carried laterally toward the flank, where the note will become dull. Ask the child to roll over to the opposite side. The previous area of flank dullness now becomes resonant as the fluid moves to the dependent part of the abdominal cavity. The same technique can be used for either flank.

To elicit a fluid thrill, the child should lie supine. Place one hand flat on the flank and tap or flick the opposite flank briskly with the other hand. If fluid is present, a wave is felt by the former hand. To dampen any wave that may pass through the fat in the anterior abdominal wall, a third hand (that of the patient or an assistant) is placed vertically in the midabdomen. Use of the third hand is rarely needed in children unless the child is obese.

Demonstrating shifting dullness is helpful when a small amount of free fluid is present in the abdomen. With massive ascites, a fluid thrill is present but shifting dullness may not be demonstrable, because there is little room in the abdominal cavity for the fluid to shift. In infants and young children, a small amount of ascites can be difficult to confirm by clinical examination, and abdominal ultrasonography may be required.

Ascites most commonly occurs in patients with cirrhosis of the liver, but it also may occur in patients with right heart failure, hypoalbuminemia, lymphatic obstruction, and primary abdominal malignancies.

Auscultation

Auscultation of the abdomen is done to determine the presence (or absence) of bowel sounds and to detect vascular bruits. Bowel sounds are gurgling sounds produced by peristalsis of the intestine. Because the small intestine is located primarily in the center of the abdomen, this is the appropriate site for auscultation. For the patient’s comfort, warm the diaphragm of the stethoscope. If auscultation in one area reveals bowel sounds, there is no need to listen elsewhere. If bowel sounds are not heard, other areas should be auscultated, because the sounds can be infrequent. Listening for several minutes in different areas is required before you can conclude that the bowel sounds are absent. Absence of bowel sounds implies a paralytic ileus, which is a serious abnormality. Hyperactive bowel sounds may be normal or may be heard in the presence of gastroenteritis or upper GI bleeding. When mechanical intestinal obstruction is present, the sounds can be very frequent and intense with a tingling character. Occasionally, bowel sounds can be audible from a distance (borborygmi). When an obstruction persists, ileus develops and the abdomen becomes silent.

Bowel sounds are important in patients with acute conditions, including abdominal trauma, peritonitis, and postlaparotomy states. They have little significance in patients with chronic abdominal symptoms.

Bruits are sounds produced by blood flow turbulence through the major blood vessels. Arterial bruits usually are heard only in systole, are high pitched, and are best heard with the diaphragm of the stethoscope. Venous hums are continuous. If the child has hypertension, auscultation for a bruit from a stenotic renal artery should be performed. The renal arteries are found about halfway between the xiphoid process and the umbilicus, and auscultation is best done within 2 cm of the midline. Occasionally, a bruit may be heard over the liver in a case of hepatic hemangioma. Auscultation for bruits requires patience, expertise, and quiet surroundings.

Auscultation of the lungs is part of the abdominal examination. Children with lower lobe pneumonia sometimes present with fever, abdominal pain, and vomiting in the absence of any respiratory symptoms.

Case History

Case 4

3-year-old Rebecca presented to the emergency department with a 2-day history of high fever and right-side abdominal pain. Her appetite was decreased, and she had vomited once. She had no cough or shortness of breath. A clinical diagnosis of acute appendicitis was made. During the preoperative assessment, an astute anesthesiologist noted faint bronchial breathing over the right lung base. A chest radiograph confirmed a small, right basilar lobar pneumonia, and thus an unnecessary appendectomy was averted.

Common Gastrointestinal Symptoms

Abdominal pain

Both acute and chronic abdominal pain are common in children. Pain identified as abdominal may originate in the gut or in other abdominal and thoracic organs. Intestinal pain often is due to either inflammation or distention. A surgical (acute) abdomen should always be considered in any child presenting with acute abdominal pain.

Infants and Toddlers

Crying is the primary manifestation of abdominal pain in infants and toddlers. However, remember that some crying is normal in young infants and does not necessarily imply pain or disease. The average newborn cries 1 to 3 hours each day. Paroxysms of irritability, fussing, or crying that start and stop without obvious cause in a thriving baby from birth to 4 months of age suggest infant colic. There is no proof that crying in so-called “colic” is caused by pain in the abdomen or elsewhere. Nevertheless, parents often assume that excessive crying is caused by pain of GI origin. Familiarity with what is referred to as “colic” should help avoid unnecessary diagnostic and therapeutic procedures. Crying peaks at 6 weeks of age and tends to resolve spontaneously by 12 weeks of age. Crying also may occur as a result of pain due to acid reflux and gut inflammation in infants who are sensitive to cow’s milk protein. Often, other symptoms also are present in such cases.

Other disorders causing presumed abdominal pain in infants often will lead to loss of interest in feeding or to vomiting, in addition to irritability and inconsolable crying. A high index of suspicion for an acute abdomen should be maintained in infants and toddlers. Localizing signs are often absent. Systemic disorders such as sepsis and meningitis should always be considered. Urinary tract infection is a common cause and can occur without symptoms, such as frequency and dysuria. Intussusception is an important disorder that occurs most commonly in mid to late infancy. It usually presents suddenly in an infant who previously has been well. The infant screams, draws both legs up, and is inconsolable. This behavior may be followed by a period of relative calm, after which the pain returns. Blood-tinged stools may be passed. Intussusception is most commonly ileo-colic. The right lower quadrant may feel empty and a sausage-like mass may be felt in the right upper quadrant. Abdominal examination is impossible in a crying infant, and one must wait for the time in between episodes. Failure to palpate a mass does not rule out intussusception. The diagnosis should be suspected with a typical history of sudden, severe pain in an infant and is confirmed with imaging studies.

Children and Adolescents

There are many causes of acute abdominal pain in children. The problem may be in the following areas:

• Gastrointestinal tract (e.g., enteritis, appendicitis, obstruction)
• Biliary system (gallstones)
• Pancreas (acute pancreatitis)
• Urinary tract (e.g., infection, renal stones)
• Reproductive organs (e.g., pelvic inflammatory disease, ectopic pregnancy)
• Musculoskeletal structures

Questions should focus on the onset of pain (gradual or sudden); its nature (constant or colicky); and its location and progression (worsening or improving). Visceral pain tends to be poorly localized, whereas pain from somatic structures is generally better defined, coming from a well-circumscribed area. Other important points in the history of a patient with acute abdominal pain should include presence of fever, vomiting, diarrhea, constipation, anorexia, cough, dysuria, rash, menstruation, trauma, infectious contacts, and any previous episodes. Loss of appetite is an important indicator of acute inflammatory abdominal disorders in children.

Acute appendicitis is the most common surgical cause of acute abdominal pain. Appendicitis is a well-known mimic of other disorders and can escape the watchful eyes of even the most experienced clinician. Clinical features of acute appendicitis are described in Chapter 12.

Ectopic pregnancy should always be considered in any adolescent girl with acute abdominal pain. While it is helpful to ask about sexual activity, a positive history may not always be offered. Sexually transmitted infections, ovarian torsion, and midcycle pain (mittelschmerz) also should be in the differential diagnosis.

Gastroenteritis is the most common nonsurgical cause of acute abdominal pain. Vomiting and diarrhea often are present and may occur before or after the onset of pain. Fever also may be present.

The physical examination of a patient with acute abdominal pain should focus on hydration, presence of toxicity, abdominal distention, tenderness, guarding, masses, organomegaly, bowel sounds, and auscultation of the lungs. Presence of a nonblanching rash on the buttocks and legs suggests Henoch-Schönlein purpura in which the small intestine may be segmentally involved, causing severe, colicky abdominal pain.

Chronic abdominal pain accounts for 2% to 4% of all pediatric office visits. The time-honored term recurrent abdominal pain used to denote functional abdominal pain in children has now been retired in favor of chronic abdominal pain (Rome III classification, 2006). Chronic abdominal pain is defined arbitrarily as pain that occurs at least once per week for at least 2 months. It affects approximately 10% to 20% of children and occurs most commonly between ages 4 and 14 years. In children, 90% to 95% of cases of chronic abdominal pain are functional (nonorganic) in nature. The term functional implies that no specific anatomic, metabolic, infectious, inflammatory, or neoplastic cause can be found to explain the symptoms. The pain can vary in frequency, duration, and severity. It is typically periumbilical or lower epigastric, nonradiating, and is rarely nocturnal. It affects normal activity and school attendance and may be incapacitating. Most importantly, the child is well between episodes, and results of a physical examination typically are normal.

Organic causes of chronic abdominal pain are uncommon. They include GI, hepatobiliary, pancreatic, and urinary disorders (e.g., infection and obstruction). GI causes include esophagitis, peptic ulcer, celiac disease, Crohn’s disease, lactose intolerance, constipation, and intermittent bowel obstruction (e.g., malrotation). Upper abdominal pain with regurgitation and chest discomfort suggest gastroesophageal reflux disease. Night pain associated with vomiting suggests a peptic ulcer. The most common cause of a peptic ulcer is infection with Helicobacter pylori; therefore, a positive family history may be present. Bloating and flatulence with abdominal pain would suggest lactose intolerance in patients with an ethnic background that carries a high risk for this condition. Biliary pain is right-sided, usually colicky, and may be associated with vomiting and jaundice. Gallstones are uncommon in children. Pancreatic disorders usually present with acute rather than chronic abdominal pain in children. Crohn’s disease and celiac disease are two common disorders in which the patient may have no symptoms other than abdominal pain.

Key Point

Abdominal pain that is severe and frequent does not necessarily imply that an organic disorder is present.

A thorough history and physical examination often help exclude organic diseases that cause abdominal pain. The parents’ worries regarding the child’s abdominal pain should be carefully explored. A grandparent may have had abdominal pain and died of colon cancer, and the parents may harbor fear that their child may have the same disease.

Worrisome clinical features in the evaluation of children with chronic abdominal pain are listed in Box 11–1. The presence of any of these features should prompt a search for an organic cause.

BOX 11–1 Red Flags in the Evaluation of Chronic Abdominal Pain

History

• Well-localized pain away from the umbilicus
• Nocturnal pain
• Altered bowel pattern (diarrhea, incontinence, constipation)
• Rectal bleeding
• Dysphagia
• Frequent vomiting
• Recurrent oral ulcers
• Weight loss
• Delayed puberty
• Extraintestinal symptoms (fever, rash, arthralgia)
• Positive family history (e.g., celiac disease, peptic ulcer, inflammatory bowel disease)

Physical examination

• Poor growth
• Pallor
• Digital clubbing
• Nonfecal abdominal mass
• Perianal disease
• Extraintestinal signs (e.g., fever, rash, arthritis)

Under the Rome III classification, children with functional chronic abdominal pain will tend to exhibit one of five clinical presentations:

• Functional dyspepsia
• Irritable bowel syndrome
• Abdominal migraine
• Functional abdominal pain
• Functional abdominal pain syndrome

This new classification is based on consensus by experts and helps to stratify patients for the purpose of studying the clinical characteristics, prognosis, and effectiveness of therapeutic interventions. However, this classification has limitations; for example, in some children the clinical features may overlap or change over time.

The pain in functional dyspepsia is centered in the upper abdomen (above the umbilicus) and is not associated with a change in stool form or frequency. The patient may have nausea and early satiety. In patients with irritable bowel syndrome, the abdominal pain is associated with other features, including a change in frequency or form of stool and improvement of pain with defecation. Children with abdominal migraine have paroxysmal episodes of intense, acute periumbilical pain that lasts for an hour or more and is associated with anorexia, nausea, vomiting, headache, photophobia, or pallor. They frequently have a family history of migraine. Most importantly, the child is completely well between episodes. Patients with functional abdominal pain have episodic or continuous abdominal pain with insufficient criteria for other functional GI disorders. When some loss of daily functioning occurs in addition to somatic symptoms, such as headache, limb pain, or difficulty sleeping, the condition is termed functional abdominal pain syndrome.

Constipation

Constipation is a delay or difficulty in defecation that causes distress. It is very common in children. Frequency of defecation in healthy infants and children varies considerably and changes with age. The frequency of bowel movements is notoriously unpredictable in healthy breastfed infants, who normally can go for a week without producing a stool. However, most healthy older children will have at least three stools weekly. The presence of symptoms (i.e., pain and soiling) rather than the frequency of stooling should define constipation that requires treatment.

Constipation in children is overwhelmingly functional. It may be related to coercive toilet training, toilet phobia, avoidance of using the bathroom at school, stressful events, intercurrent illness, changes in routine or diet, or a child’s postponing defecation or emptying the colon incompletely because he or she is too busy (tight schedule = tight sphincter!).

Organic causes of constipation in children are rare and are usually obvious clinically. These causes include:

• Neuroenteric dysfunction (e.g., Hirschsprung disease, spinal cord abnormalities)
• Anatomical problems (e.g., anal stenosis)
• Endocrine disorders (e.g., hypothyroidism, diabetes)
• Metabolic problems (e.g., hypercalcemia)
• Systemic disease (e.g., celiac disease, cystic fibrosis)
• Drugs (e.g., opiates, anticholinergic agents)

Pertinent questions to ask a child with chronic constipation are listed in Box 11–2. The earlier the constipation starts in life, the more the likelihood of finding an organic cause. For example, Hirschsprung disease should be suspected in a baby who has not passed meconium within 48 hours of birth. Approximately 90% of full-term babies pass their first meconium within 24 hours, and 99% do so within 48 hours of delivery. Hence the vast majority of cases are diagnosed in the newborn period. In older children, the stooling pattern in the neonatal period should be explored. Children with Hirschsprung disease may have recurrent vomiting and abdominal distension and may fail to thrive. The stools passed are often thin and ribbonlike, in contrast to the large-caliber stools seen in persons with functional fecal retention. Urinary symptoms may occur with chronic constipation by direct pressure of the distended colon on the bladder. However, the presence of urinary symptoms or gait disturbance also should alert one to a spinal cord problem. Obtain a detailed dietary history, especially milk intake. Children who drink unusually large amounts of whole milk may become quite constipated. Any drug that inhibits smooth muscle motility can cause constipation.

BOX 11–2 History in Children with Constipation

• Onset and duration of symptoms
• Delay in passage of meconium at birth
• Stool pattern (frequency, consistency, presence of blood)
• Fecal soiling
• Associated symptoms (weight loss, vomiting, abdominal pain, urinary problems)
• Dietary habits
• Use of medications
• Family history (e.g., Hirschsprung disease, cystic fibrosis, celiac disease)

Physical examination of a child with constipation should include assessment of growth. The thyroid gland should be examined for goiter. Inspection of the spine and neurologic examination of the lower limbs should help exclude spinal cord lesions. Fecal masses are frequently felt on abdominal examination in patients with constipation. A rectal examination is not needed in the vast majority of cases to diagnose functional constipation.

If the constipation becomes intractable despite adequate therapy, investigations for celiac disease, hypothyroidism, and hypercalcemia may be indicated. Usually, other clinical features point to these conditions (Fig. 11–6).

image

FIGURE 11–6 This toddler had chronic constipation and abdominal distension and underwent investigations for Hirschsprung disease. Her growth was normal. She was later diagnosed with celiac disease.

Infants and Toddlers

Even in infants, most cases of constipation do not have an organic cause. Infant dyschezia (painful stooling) is a type of functional bowel disorder seen in babies younger than 6 months of age. These infants present in a peculiar manner by having attacks of crying, turning red, and a flushed face with the episode culminating in passage of stool. The discomfort is attributed to constipation. The key is to ask about the characteristic of the stool, which is soft and not hard. These infants may receive inappropriate treatment for constipation.

Key Point

Delayed passage of meconium in a baby should raise suspicion of Hirschsprung disease.

Constipation occurs most commonly in toddlers. They often inappropriately retain stool as a result of traumatic events like passage of a hard, painful stool, sometimes with an anal fissure. This episode leads to a vicious cycle of withholding, harder stools, and painful attempts to defecate. Characteristic stool-withholding behavior is observed with a child going to the corner with his or her legs crossed and straining. Secondary anorectal distension, abdominal pain, poor appetite, fecal soiling, and behavioral problems may follow. Physical examination commonly reveals a large, retained fecal mass.

Children and Adolescents

Chronic constipation can affect children of all ages. It may develop in late childhood and adolescence or continue as an ongoing problem from infancy. Fecal retention occurs and the child passes large-diameter stools that may obstruct the toilet. In nonretentive fecal incontinence, the child defecates in places inappropriate to the social context without evidence of fecal retention. Important elements in the history and physical examination are not much different in this age group. In adolescents, constipation and abdominal discomfort may occur as part of irritable bowel syndrome.

Encopresis is defined as repeated involuntary passage of feces into the underwear in a child older than 4 years. Encopresis typically develops as a consequence of chronic constipation with overflow incontinence. Progressive rectal distention and stretching of the anal sphincter leads to weak contracture of rectosigmoid musculature and impaired sensation of the need to defecate, resulting in loss of continence. A large fecal mass (fecaloma) develops and liquid stool eventually leaks around the fecal mass, resulting in soiling. More than 90% of children with encopresis have a history of constipation and painful defecation (retentive encopresis). Even in the remaining children with nonretentive encopresis, many will have a remote history of constipation.

Case History

Case 5

14-year-old Emma who was previously well presented to her family physician with nonbloody diarrhea. She was passing four to five liquid stools daily, and fecal incontinence had developed. She denied having constipation. A referral was made to the gastroenterology clinic with a provisional diagnosis of colitis. Physical examination revealed a large fecal mass in the rectum. The patient was diagnosed as having encopresis with overflow diarrhea. Treatment promptly resolved the symptoms.

Adolescents may be too shy or embarrassed to complain about bowel symptoms. Encopresis should be suspected if they present with stool incontinence. A simple clinical examination will clarify the diagnosis.

Vomiting and regurgitation

Vomiting is a sophisticated reflex that results in the expulsion of GI contents from the mouth. The passage of refluxed gastric contents into the oral pharynx is termed regurgitation. Vomiting is a common symptom in children and can occur in a variety of GI and extraintestinal disorders. This distinction is helpful in classifying the causes of vomiting. Extraintestinal disorders include increased intracranial pressure, urinary disorders, and metabolic disorders. Gastrointestinal disorders include inflammatory lesions (infectious and noninfectious) and obstruction.

Acute vomiting is usually the result of an infection. The age of the patient can give clues to the cause.

Infants and Toddlers

Gastroesophageal reflux is a common cause of vomiting/regurgitation in infants. More than half of all healthy infants will have some spitting of food. Most of these infants have functional regurgitation (physiologic reflux) without any retching, hematemesis, aspiration, apnea, failure to thrive, swallowing difficulties, or abnormal posturing. This reflux peaks between 2 and 4 months and starts to improve after 6 months of age. The presence of other complicating symptoms like failure to thrive, food aversion, and pain suggests gastroesophageal reflux disease.

Infant rumination syndrome is a functional disorder that occurs between 3 and 8 months of age. The infant has repetitive contractions of the abdominal muscles, diaphragm, and tongue with regurgitation of gastric content into the mouth, which is either expectorated or rechewed and reswallowed. There are no signs of nausea or distress, and it does not occur during sleep or when the infant is interacting with individuals in the environment. The problem typically does not respond to management for gastroesophageal reflux disease, formula changes, and gavage or gastrostomy feedings.

Vomiting in a newborn is an important sign of intestinal obstruction. With obstruction beyond the pylorus, the vomiting is usually bilious and associated with abdominal distention, which varies depending on the site of the obstruction. Common causes include intestinal atresia, malrotation, and Hirschsprung disease. Other causes of vomiting in infants include GI infections, other infections (e.g., urinary infections, pneumonia, otitis media, and meningitis), milk protein sensitivity, pyloric stenosis, intussusception, increased intracranial pressure, and inborn errors of metabolism.

Pyloric stenosis presents around 4 to 6 weeks of age with progressive, nonbilious vomiting. The baby is hungry but cannot keep food down. Weight loss and dehydration are common. Physical examination may reveal a pyloric tumor on palpation, but locating it requires patience and considerable experience. Imaging studies confirm the diagnosis. Surgical causes of vomiting in infants are discussed in more detail in Chapter 12.

Key Point

Bilious vomiting in a newborn is suggestive of intestinal obstruction.

Children and Adolescents

Both GI and extraintestinal infections can cause vomiting in children and adolescents. Persons with extraintestinal infections often will have other localizing symptoms such as dysuria, cough, or headache. Inflammatory lesions causing vomiting include esophagitis (reflux, eosinophilic), peptic ulcer, celiac disease, biliary colic, pancreatitis, and appendicitis. Intestinal obstruction causing vomiting generally will be associated with abdominal pain. Malrotation should be a consideration in any patient with recurrent vomiting, with or without other symptoms.

Functional disorders causing regurgitation and vomiting in children and adolescents include cyclical vomiting and rumination. In cyclical vomiting, the child has periods of intense nausea and unremitting vomiting or retching lasting hours to days, with a return to a usual state of health between episodes. Adolescent rumination is an uncommon disorder in which there is repeated painless regurgitation and rechewing or expulsion of food that begins soon after ingestion of a meal. There is no retching, and it does not occur during sleep. No evidence exists of an inflammatory, anatomic, metabolic, or neoplastic process that explains the subject’s symptoms. Standard treatment for gastroesophageal reflux does not help.

Key Point

Non-GI disorders should always be considered in children with vomiting.

Increased intracranial pressure is an important cause of chronic vomiting. This pressure often is the result of a space-occupying lesion, such as a tumor. Vomiting typically occurs early in the morning when the cerebrospinal fluid pressure is highest. Headache and visual complaints may be present. Careful funduscopy and a thorough neurologic examination should be performed in any child with chronic vomiting.

Case History

Case 6

Previously healthy 3-year-old Timothy had made a couple of trips to the emergency room with chronic vomiting. The vomiting started a few weeks previously and usually occurred in the morning upon waking up. He had been a bit more irritable but had no fever, headache, visual symptoms, abdominal pain, diarrhea, or weight loss. Physical examination was described as unremarkable, and findings of routine blood work were normal. A tentative diagnosis of acid reflux was made, and the child was referred to the gastroenterology service. When the patient failed to come to the outpatient clinic 2 weeks later, the family was contacted. It was learned that the child was in the intensive care unit recovering after resection of a brain stem tumor.

Diarrhea

Acute diarrhea is usually due to enteric infections, most of them viral. A number of viruses, bacteria, and parasites can cause diarrhea. Generally, viruses infect the small intestine, whereas bacteria infect the small and/or large intestine. Parasites can involve the small intestine (Giardia lamblia) or large intestine (Entamoeba histolytica). In immunocompromised patients, cytomegalovirus can cause colitis.

Diarrhea is arbitrarily termed chronic if it persists for more than 2 weeks. The vast majority of cases of chronic diarrhea are due to one of the disorders listed in Box 11–3.

BOX 11–3 Common Causes of Chronic Diarrhea in Children

• Functional diarrhea (toddler’s diarrhea, irritable bowel syndrome)
• Gastrointestinal infections/infestations
• Celiac disease
• Inflammatory bowel disease
• Cystic fibrosis
• Disaccharidase deficiency (e.g., lactose intolerance)
• Allergic GI disorders
• Medication side effects
• Hyperthyroidism
• Laxative abuse

In a child with diarrhea, important questions in the history should cover the topics listed in Box 11–4.

BOX 11–4 History in Children with Chronic Diarrhea

• Onset and duration of symptoms
• Stool pattern (frequency, consistency, presence of blood)
• Associated symptoms (weight loss, fever, vomiting, abdominal pain)
• Dietary habits
• Use of medications, including antibiotics
• History of travel
• Infectious contacts
• Family history (inflammatory bowel disease, celiac disease)

The gross appearance of the stool provides valuable information as to the likely etiology of diarrhea. Stools in patients with osmotic diarrhea are bulky and foul smelling. In patients with secretory diarrhea, they tend to be of high volume and watery. Stopping oral intake will improve osmotic diarrhea, but secretory diarrhea will continue until the stimulus (usually a toxin) is removed. In patients with inflammatory diarrhea, the stools are often small and contain mucus and blood. Perianal burning and rash suggest acidic stools from carbohydrate malabsorption. The presence of fresh blood in the stools implies colonic involvement, likely from infectious colitis or inflammatory bowel disease, and essentially rules out other conditions mentioned in Box 11–3.

In patients with acute diarrhea, the examination should focus on the presence of dehydration. In patients with chronic diarrhea, malabsorption should be considered by assessing growth and looking for signs of macro- and micronutrient deficiencies.

Infants and Toddlers

Diarrhea is uncommon in newborns. Diarrhea that starts immediately after birth is worrisome and may be due to any of the rare causes of congenital diarrhea such as microvillus inclusion disease and congenital chloride-losing diarrhea. Infants with these conditions generally are very ill, dehydrated, and severely malnourished. The presence of maternal polyhydramnios can provide a clue regarding congenital diarrhea.

Although infection remains the most likely cause of diarrhea at all ages, enteric infections are uncommon in the first few months of life because of the infant’s placentally acquired immunity. Diarrhea occurs commonly in infants as a result of allergic GI disorders. Other symptoms may include irritability, vomiting, and failure to thrive. When fresh blood is present in the stools, allergic colitis is the likely diagnosis. Cow’s milk protein is the most common allergen causing this sensitivity, followed by soya protein. Allergic colitis occasionally can occur in breastfed babies as a result of the cow’s milk protein being transferred in the maternal milk. Allergic colitis occurs in early infancy and tends to resolve after the first or second year of life.

Infection of the upper small intestine with the protozoan Giardia lamblia may cause chronic diarrhea. In severe infestations, the patient may vomit, have abdominal pain, and experience weight loss. The infection can occur with contaminated water supplies or may be transmitted in day care settings.

Most bacterial infections that cause an acute diarrheal illness are self-limited. Occasionally, infection with pathogens like Yersinia enterocolitica can last for several weeks. Clostridium difficile can cause chronic diarrhea in older infants and toddlers. Risk factors for contracting this infection include use of antibiotics, hospitalization, inflammatory bowel disease, and immune deficiency. It is the most common cause of antibiotic-associated diarrhea. Antibiotics are used all too frequently in children for respiratory and ear infections. The C. difficile infection may occur several weeks after the last dose of antibiotics is taken. A careful medication history may provide a clue to the diagnosis. Some cases of antibiotic-associated diarrhea are due to noninfectious causes, including decreased metabolism of unabsorbed complex carbohydrates from altered colonic bacterial flora, allergic or toxic effects of the antibiotic on intestinal mucosa, and the pharmacologic effect on gut motility (e.g., with erythromycin).

Celiac disease can develop at any time after gluten is introduced in the diet. Solid foods often are introduced in the diet of the infant at 5 to 6 months of age. Classic celiac disease presents with diarrhea, abdominal distention, and failure to thrive in infancy. However, this presentation is becoming less common. A family history of celiac disease or other autoimmune disorders should always be explored.

Crohn’s disease is exceedingly rare in infants and toddlers. Ulcerative colitis can occur in toddlers but is uncommon.

Diarrhea (steatorrhea) will occur in patients with cystic fibrosis when pancreatic insufficiency is present. The description of fatty stools is notoriously unreliable. Stools must be examined when fat malabsorption is suspected. Weight loss will occur rapidly in patients with any disorder of fat absorption. Patients with this disorder are at risk of fat-soluble vitamin deficiencies.

Primary lactose intolerance is rare in infancy. Secondary or transient lactose intolerance occurs more commonly, following some other insult to the small intestinal mucosa with loss of brush border enzymes. Primary or permanent lactose intolerance usually occurs in early childhood or in later years.

The diarrhea in infants and toddlers may be functional in nature. This type of diarrhea also is referred to as toddler’s diarrhea or benign, nonspecific diarrhea of childhood. It is one of the most common causes of chronic diarrhea in this age group. Sometimes, this type of diarrhea follows an infection. Excessive consumption of fruit juices and other sweetened drinks often is a contributing factor because of the high fructose and/or sorbitol content of these beverages. Children with this type of diarrhea are otherwise completely normal and thriving.

Overfeeding is often an overlooked cause of diarrhea in young children. Children who are overfed are overweight, happy, and usually have no other symptoms.

Children and Adolescents

With the exception of congenital diarrhea and allergic enteropathy, most disorders described in the section on Infants and Toddlers can also cause diarrhea in older children and adolescents.

Inflammatory bowel disease becomes a major consideration in this age group. Nocturnal bowel movements, tenesmus, urgency, and fecal incontinence should raise the suspicion of colonic inflammation. Blood may or may not be present in the stools. Abdominal pain is common. Weight loss frequently occurs in persons with Crohn’s disease, and clinical features of Crohn’s disease and ulcerative colitis overlap. The presence of perianal disease and oral aphthous ulcers strongly suggests Crohn’s disease. A positive family history is an important risk factor for developing inflammatory bowel disease and celiac disease.

Key Point

Nocturnal diarrhea is very suggestive of an inflammatory bowel problem, such as Crohn’s disease or ulcerative colitis.

Gastrointestinal bleeding

GI bleeding is an alarming symptom for both patients and parents. Massive bleeding, although rare in children, is a serious problem that must be managed aggressively to restore blood volume and stop further hemorrhage. The urgent issues are to (1) estimate the quantity of blood lost and (2) identify the site of bleeding.

Lower GI bleeding will manifest as fresh, bright red blood by way of the rectum, whereas upper GI bleeding can present with hematemesis or melena. If bleeding from the upper GI tract is brisk, the patient may pass bright red blood by way of the rectum. Another useful way to classify GI bleeding is to note whether it is painful or painless. With a few exceptions, painful bleeding has an inflammatory cause.

GI bleeding can be overt (gross) or occult. Occult bleeding will present as iron deficiency anemia and related symptoms, for example, fatigue. A stool guaiac test will be positive. Only gross bleeding will be discussed in this section, although many causes of occult bleeding also can present as gross bleeding.

First, be sure that what is being called blood is really blood. Occasionally, medications, food coloring agents, and dietary items may mimic blood. Testing for blood should be done in doubtful case. Also, hematemesis can occur from an extraintestinal cause, such as swallowed blood from an upper respiratory source, for example, posttonsillectomy and adenoidectomy bleeding or epistaxis.

Although some disorders causing GI bleeding are age specific, many can occur at any age. These disorders include peptic disease, Mallory-Weiss tears, coagulopathy, and vascular malformations. Mallory-Weiss tears occur in the lower esophagus or stomach and are due to forceful retching or vomiting. Ask about previous episodes, bleeding, or bruising elsewhere in the body and associated symptoms, including retching, abdominal pain, vomiting, diarrhea, use of medications (especially nonsteroidal anti-inflammatory drugs), and a positive family history of bleeding disorder or peptic ulcer. In critically ill patients, bleeding can occur from stress ulcerations. Gastric and colon cancers are exceedingly rare in the pediatric population.

A complete physical examination should be performed in the child with special emphasis on the child’s hemodynamic status. The presence of splenomegaly will clinch the diagnosis of variceal bleeding due to portal hypertension. Bruises suggest a coagulopathy. Petechiae may be seen in thrombocytopenia. Hyperactive bowel sounds suggest that the bleeding site is probably in the upper GI area. Blood can act as a cathartic, stimulating peristaltic activity. Perianal inspection should be performed. Perianal skin tags are pathognomonic of Crohn’s disease and may be confused with external hemorrhoids. Hemorrhoids do not occur in children. Juvenile polyps are usually rectosigmoid in location but are rarely palpable on rectal examination in a child.

Case History

Case 7

13-year-old Brent previously had been well presented to his family physician with a 2-day history of small quantities of bright red blood in the stools. The patient had no fever, diarrhea, constipation, or abdominal pain. Growth was normal. A diagnosis of hemorrhoids was made, and a topical antiinflammatory cream was prescribed. Unfortunately (or fortunately!) a sensitivity reaction to the medication developed, leading to marked itching and a burning sensation. When the patient was seen at the hospital emergency department, it became clear that the lesions diagnosed as “hemorrhoids” were, in fact, two large perianal skin tags. Further investigations confirmed that he had Crohn’s disease.

Infants and Toddlers

In the neonatal period, hematemesis is commonly due to ingested maternal blood from cracked nipples during breastfeeding. A coagulopathy also can be a possible cause. Other causes of bleeding are rare. In older infants and toddlers, peptic disease may present with hematemesis.

Rectal bleeding in the first few months is most often from an anal fissure. A history of hard, painful stool makes the diagnosis more likely. The bright red blood streaks are typically on the surface of the stool. An acute anal fissure may be difficult to visualize due to spasm of the anal muscles. Passage of small amounts of bright red blood by way of the rectum is seen in persons with allergic colitis (i.e., milk protein sensitivity). Other clinical features, such as pain and diarrhea, may be absent. These infants are otherwise well and thriving. Other causes of rectal bleeding in infants include infectious colitis, necrotizing enterocolitis, intussusception, and Meckel diverticulum. The surgical causes of bleeding are discussed in Chapter 12.

Children and Adolescents

In children and adolescents, peptic disease is one of the most common causes of hematemesis. Patients with reflux esophagitis and peptic ulcer disease often will have other symptoms such as abdominal pain, regurgitation, or vomiting. Bleeding from a peptic ulcer can be massive. Examination may reveal epigastric tenderness. Bleeding from esophageal varices is also usually massive but painless. Both hematemesis and melena may occur. These patients may have known chronic liver disease with cirrhosis or present the first time with portal hypertension from unrecognized portal vein thrombosis or congenital hepatic fibrosis. Splenomegaly is almost always present in these cases. A history of retching and vomiting followed by hematemesis in a previously well child suggests a Mallory-Weiss tear. The amount of bleeding is variable.

Rectal bleeding from an anal fissure can occur at any age. A small amount of blood in the stool in a young child without a history of constipation is commonly from a juvenile polyp. These benign lesions can be excised during colonoscopy but often are shed spontaneously in time. Rectal bleeding with diarrhea and abdominal pain suggests an infectious colitis or inflammatory bowel disease. Proctitis can cause rectal bleeding without diarrhea or pain. Rectal bleeding may occur in other systemic diseases, such as Henoch-Schönlein purpura and vasculitides.

Dysphagia

Dysphagia is the subjective sensation of having difficulty swallowing. It can occur from any process that impairs active transport of food and liquid from mouth to stomach. Odynophagia refers to painful swallowing. Dysphagia can occur from a variety of causes including congenital, infectious, inflammatory, systemic, traumatic, and neoplastic disorders. It is uncommon in children. Dysphagia may be pharyngeal or esophageal in origin. The causes of pharyngeal dysphagia are mainly neuromuscular in nature, causing difficulty in swallowing both liquids and solids, although there is often more difficulty with liquids. Nasopharyngeal regurgitation may occur. Esophageal dysphagia could be due to problems within the lumen (e.g., stricture, web, ring, or foreign body); in the wall (e.g., esophagitis, connective tissue disorders, or achalasia); or extramural (e.g., a mediastinal mass). This typically leads to difficulty in swallowing solid foods. Esophageal cancer is not seen in children. Occasionally, no organic etiology for dysphagia is found, and it is termed psychogenic. Some patients with psychogenic dysphagia may have had a choking event in the past with subsequent fear of swallowing.

Gastroesophageal reflux disease, which is a common cause of dysphagia, may occur from esophagitis or from a peptic stricture. Eosinophilic esophagitis is a newly recognized disorder that can occur in children of any age. In this disorder, isolated eosinophilic inflammation of the esophagus leads to a variety of symptoms including dysphagia, food impaction, feeding intolerance, abdominal pain, weight loss, nausea, and vomiting. Clinical features can mimic gastroesophageal reflux disease.

Most causes of dysphagia are apparent from the history and physical examination. The throat should be examined for tonsillar size and palatal movements. A thorough neurologic examination, especially of the cranial nerves, is essential. A barium swallow is the investigation of choice in persons with dysphagia to rule out anatomic problems.

Infants and Toddlers

Inability to swallow in an otherwise well newborn may suggest esophageal atresia. Respiratory symptoms may be present if there is a concomitant tracheal fistula. There often is a history of maternal polyhydramnios.

The main presentation of dysphagia in infants is aversion to feeding/food refusal. Toddlers may learn to avoid textured foods because they find them difficult to swallow. Common causes of dysphagia in this age group include gastroesophageal reflux disease and eosinophilic esophagitis. Dysphagia also can be the presenting symptom of various neuromuscular disorders, including cerebral palsy.

Children and Adolescents

A more definite history of dysphagia can be obtained in children and adolescents. Often, the children will regurgitate or vomit in the middle of the meal or drink extra amounts of fluids with food. Avoidance of textured foods is common. A bolus impaction may occur, requiring a trip to the emergency department. Unless a systemic illness is found, dysphagia should be considered to be from an anatomic cause, unless proven otherwise. Isolated dysphagia without a history of regurgitation, chest pain, or other symptoms is typical of eosinophilic esophagitis in children and adolescents. Odynophagia is commonly due to infectious or inflammatory disorders of the pharynx.

Case History

Case 8

15-year-old Dorothy who was otherwise well had a several-year history of dysphagia. It was notably more common when eating meats. On rare occasions, she had vomited a piece of undigested food. She had no problem swallowing liquids. She did not have any history of bolus obstruction, odynophagia, regurgitation, heartburn, abdominal pain, chronic cough, or weight loss. She was active in sports and doing well in school. Proton pump inhibitor therapy had not helped. Results of a physical examination were normal. A barium swallow test had revealed no abnormality. She was thought to have psychogenic dysphagia/globus and was referred to the gastroenterology service. An upper GI endoscopy was performed, and the esophagus appeared normal on gross inspection. However, biopsy specimens revealed eosinophilic esophagitis.

Globus is the sensation of a lump in the throat causing difficulty with swallowing when no physical cause is found. Symptoms may be present constantly or may occur during certain emotional states. There is usually no pain or worsening of the globus with swallowing. The symptom is often relieved by eating or drinking, and no weight loss occurs.

Key Point

A diagnosis of globus hystericus or psychogenic dysphagia should not be made without appropriate endoscopic and histological evaluation of the esophagus for inflammatory lesions.

Jaundice

Jaundice or icterus is yellow discoloration of the sclera and skin as a result of hyperbilirubinemia. Serum bilirubin levels can increase due to:

1. Increased production of bilirubin, as occurs in hemolytic disorders
2. Decreased conjugation in the liver
3. Impaired excretion from the liver to the intestines

Jaundice can be the result of acute liver dysfunction or a feature of chronic or end-stage liver disease. The most important aspect of the assessment of jaundice in any patient is to determine whether the hyperbilirubinemia is unconjugated (indirect-reacting) or conjugated (direct-reacting). This process broadly divides the differential diagnosis into prehepatic and hepatic/posthepatic causes. Although the jaundice that occurs with conjugated hyperbilirubinemia tends to be deeper, one cannot rely on color alone to determine the type of hyperbilirubinemia present. Also, the degree of jaundice on clinical examination does not correlate well with the severity of the hyperbilirubinemia. Unconjugated hyperbilirubinemia is prehepatic in nature, whereas conjugated hyperbilirubinemia is the result of hepatocellular dysfunction or intra- or extrahepatic biliary obstruction (cholestasis). Disorders that cause biliary obstruction eventually will lead to hepatocellular injury.

Jaundice often is first noticed by someone other than the patient. The history in a child with jaundice should include its duration and the presence of associated symptoms including fever, abdominal pain, fatigue, passage of dark urine, pale/light-colored stools, ingestion of drugs or other toxins, infectious contacts, past use of blood products, and family history of liver problems or hemolytic disorders. In patients with cholestasis, the urine can appear dark yellow (bilirubin) and the stools pale in color.

Physical examination should focus on clinical signs of liver dysfunction. The presence of bruising suggests coagulopathy and is an ominous sign. Liver size and texture should be assessed. The presence of splenomegaly and ascites implies portal hypertension. Signs of chronic liver disease include palmar erythema, spider angiomas, and clubbing. Kayser-Fleischer rings are caused by abnormal deposition of copper in the cornea in patients with Wilson disease. They are easily visible in persons with advanced cases, but slit lamp examination is required in patients with milder cases.

Infants and Toddlers

Jaundice develops in many healthy newborns on the second or third day of life. This condition is termed physiologic jaundice and is the result of rapid destruction of the red blood cells combined with immaturity of the liver. Babies with this condition are otherwise well and do not have dark urine or pale stools. The hyperbilirubinemia is always of the unconjugated type, and the jaundice resolves over a few days. This problem can be more severe in premature babies. The jaundice can persist for several weeks in breastfed babies. Breast-milk jaundice is a benign condition of uncertain etiology that resolves over time. The hyperbilirubinemia is exclusively the unconjugated type.

Jaundice appearing within the first day of life is always abnormal and is most commonly the result of a hemolytic disease. This includes blood group incompatibilities (ABO, Rh) and congenital hemolytic disorders, such as hereditary spherocytosis. The hyperbilirubinemia is the unconjugated type and is the result of ongoing destruction of the red blood cells. Other conditions to consider in unconjugated hyperbilirubinemia include hypothyroidism and sepsis.

Key Point

Extrahepatic biliary atresia should be ruled out in any neonate who has conjugated hyperbilirubinemia.

Conjugated hyperbilirubinemia in an infant is a serious problem requiring urgent attention. Obstructive lesions, such as extrahepatic biliary atresia and choledochal cyst, require surgical attention. The list of causes of infantile cholestasis is extensive, and only the most common ones are mentioned here. These causes include congenital infections; metabolic disorders (e.g., α-1 antitrypsin deficiency, tyrosinemia, and galactosemia); paucity of bile ducts (syndromic—e.g., Alagille syndrome—or nonsyndromic); neonatal hepatitis; and cystic fibrosis. Urinary tract infection is an often overlooked cause of infantile cholestasis. History and physical examination often are not enough to arrive at an etiologic diagnosis in infants with cholestasis, and investigations are required.

Case History

Case 9

3-week-old Nicholas presented with jaundice that had been noticed a few days earlier. He was born at term after an uneventful pregnancy and delivery to a healthy mother. He was exclusively breastfed, happy, thriving, and had no other symptoms. He was noted to be jaundiced but had normal growth and an unremarkable physical examination. Investigations revealed a normal complete blood cell count and a total bilirubin level of 83 μmol/L (normal, <17). Fractionation of bilirubin was not carried out. A diagnosis of breast milk jaundice was made, and the mother was reassured. The jaundice persisted, but the baby continued to thrive. When seen about a month later, there was no change in the clinical condition. The family was advised that breast milk jaundice is a benign, self-limited condition that resolves over time.

At 5 months of age, he presented to the emergency department with irritability, abdominal distension, and bruises on the body. Clinical evaluation revealed fulminant hepatic failure with marked cholestasis and coagulopathy. A diagnosis of extrahepatic biliary atresia was confirmed. Failure to fractionate the bilirubin into direct and indirect components had led to a missed diagnosis and a lost opportunity for a Kasai portoenterostomy operation. The patient required a liver transplant and experienced significant morbidity.

Children and Adolescents

The most common cause of unconjugated hyperbilirubinemia in children and adolescents is Gilbert syndrome, a benign condition caused by a relative deficiency of hepatic glucuronyl transferase. Jaundice develops at times of physical stress, including dehydration, fasting, and acute illnesses. Sometimes the abnormality is found on routine blood tests. On physical examination, other than jaundice, no hepatomegaly or other stigmata of liver dysfunction are noted. Chronic hemolytic disorders, such as hereditary spherocytosis and glucose-6 phosphate dehydrogenase deficiency, also can cause an unconjugated hyperbilirubinemia. Because many of these disorders are hereditary, a thorough family history is essential. Splenomegaly is commonly found.

Jaundice from conjugated hyperbilirubinemia is often due to acute viral hepatitis. Common infections include hepatitis A and infectious mononucleosis, although several other viruses also can cause acute hepatitis. Hepatitis B and C are more commonly chronic in nature. Bile duct obstruction from stones also should be in the differential diagnoses. The patient may have biliary colic with fever and pain in the right upper quadrant if cholangitis is present. Autoimmune hepatitis and Wilson disease are two important disorders that must be considered in any child with acute or chronic jaundice. These disorders are serious but can be treated effectively. Toxic hepatitis can occur with several medications, especially acetaminophen overdose. Occasionally, acute jaundice occurs as a result of involvement of the liver from infiltrative lesions of leukemia.

Summary

Both acute and chronic GI complaints are common in children. Extraintestinal disorders should always be considered in children presenting with GI symptoms. Many disorders in the pediatric population are age-specific, and this knowledge helps narrow the list of possible diagnoses. A thorough history and a careful physical examination remain the key in making the correct diagnosis in children with GI symptoms.

Recommended reading

Hyman P.E., Milla P.J., Benninga M.A, et al. Childhood functional GI disorders: neonate/toddler. Gastroenterology. 2006;130:1519-1526.

North American Society for Pediatric Gastroenterology. Hepatology and nutrition: Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2006;43:e1-e13.

Rasquin A., DiLorenzo C., Forbes D., et al. Childhood functional GI disorders: neonate/toddler. Gastroenterology. 2006;130:1527-1537.

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