DEFINITION OF THE COMPLAINT
Abdominal pain is a common complaint in pediatrics and has an extensive list of possible causes, not all gastrointestinal in etiology. Additionally, the etiology may be acute and life-threatening or more chronic in nature. The patient’s clinical presentation, history, and physical examination along with directed testing usually elucidate the etiology and help clarify the treatment course.
Abdominal pain is usually stimulated by one of three pathways: visceral, somatic, or referred. Visceral pain is caused by a distended viscus (i.e., one of the organs of the body) that activates a local nerve and sends an impulse that travels through autonomic afferent fibers to the spinal tract and central nervous system. Precise localization of visceral pain is often difficult and frustrating because there are very few afferent nerves that travel from the viscera and the nerve fibers frequently overlap. Visceral pain is generally felt in the epigastric region, the periumbilical region, or the suprapubic area. Somatic pain, because it is carried by somatic nerves in the parietal peritoneum, muscle, or skin, is usually well localized and sharp. Referred pain, defined as abdominal pain perceived at a site remote from the actual affected viscera, can either be sharp and localized or diffuse. There is a great deal of individual variability in the experience of pain so that neuroanatomic, neurophysiologic, pathophysiologic, environmental, and psychosocial factors all play a part in the expression of pain. The frequency of the chief complaint of abdominal pain necessitates categorizing the presentation of abdominal pain into the following: acute abdominal pain and chronic abdominal pain.
In the case of acute abdominal pain, a patient or parent is usually able to pinpoint the onset of the pain to an event or time of day. If the pain is mild initially, it often becomes progressively worse and eventually interferes with sleep and normal activities. Other than intussusception (when one part of the intestine slips into itself), acute abdominal pain that requires surgical intervention does not recur and is not relieved without some intervention. Nausea, vomiting, diarrhea, fever, and anorexia often accompany acute abdominal pain. Patients most often appear acutely ill and position themselves to protect the abdomen from further examination. Chronic abdominal pain is defined as pain that lasts 2 or more weeks. Chronic abdominal pain does not usually require surgical intervention. Although formal definitions and guidelines exist, the definition basically includes any child who has abdominal pain with multiple episodes (minimum of three) over a long period (at least 3 months) without a known cause, for which the family seeks medical attention, and which interferes with the child’s ability to function. In the past, the term recurrent abdominal pain was used as well, but in 2005 the American Academy of Pediatrics Subcommittee on Chronic Abdominal Pain suggested that the term be replaced with functional abdominal pain as it is thought to be the most common cause of chronic abdominal pain. Functional abdominal pain has no pathologic root. Because of the frustration for the family and child, as well as the extensive differential diagnosis for this problem, a consistent approach is vital. The approach must include a thorough history, arguably the most important component, physical examination, laboratory testing, imaging studies, and empiric interventions.
COMPLAINT BY CAUSE AND FREQUENCY
It is vital to remember that abdominal pain, although a frequent complaint, is not in itself a diagnosis, and a thorough evaluation of this symptom is required to determine the cause. The causes of abdominal pain in childhood vary by age (Table 7-1), can be based on whether the abdominal pain is acute or chronic in nature (Table 7-1), and can also be grouped by etiology (Table 7-2).
Accurate diagnosis in a child with abdominal pain requires a thorough history and physical examination. There must be consideration of the type and location of pain to create a working differential to approach the individual patient with abdominal pain. The following questions may be helpful in arriving at a diagnosis:
• When did the pain begin and how long has it lasted?
— The determination of acute or chronic pain is vital in considering the possible etiologies of the pain, identifying a patient who requires surgical intervention (i.e., intestinal obstruction, acute appendicitis, malrotation and midgut volvulus, Meckel diverticulum, incarcerated inguinal hernia, hypertrophic pyloric stenosis, trauma, Hirschsprung disease), and finally determining any other life-threatening causes of abdominal pain that do not require surgical intervention (i.e., intussusception, severe gastroenteritis, toxic overdose, sepsis, hemolytic uremic syndrome, diabetic ketoacidosis, myocarditis, peptic ulcer disease with perforation, fulminant hepatitis, ectopic pregnancy, pelvic inflammatory disease with tuboovarian abscess). Although gastroenteritis is the most common cause of acute pain and constipation considered the most common cause of chronic pain, other etiologies must be ruled out.
While an infant will frequently display pain as a behavior change (i.e., poor oral intake, irritability, inconsolable crying), older children can verbalize the character of the pain. For diagnoses such as irritable bowel syndrome, where the chronicity of the pain is an important feature of the diagnosis, the duration of pain is also vital. Additionally, with chronic pain, the timing of the pain is key. For example, pain that awakens a child from sleep suggests peptic disease whereas pain that occurs during dinner is often associated with constipation. Additionally, paroxysms of pain, where the child has 20-minute intervals of being well in between inconsolability, is classically seen with intussusception.
• What is the location of the pain?
— Even when abdominal pain seems localized, a thorough examination must be performed to rule out other nongastrointestinal causes of the pain. Certain locations may herald specific disease processes. Perhaps, the most important of these is the association of appendicitis with acute pain in the right lower quadrant (even more specifically, tenderness over McBurney point). While appendicitis is the most common cause for emergency surgery (apart from trauma) in children, delayed diagnosis often occurs in children because a progressing disease process often results in the absence of the classic clinical findings. Acute appendicitis often does not have pain as the first symptom, but other surgical emergencies that are potentially life-threatening and catastrophic do (e.g., malrotation with volvulus, intussusception, ovarian torsion). The classic pattern associated with acute appendicitis of periumbilical visceral pain that travels to the right lower quadrant with subsequent nausea, vomiting, and anorexia is far less common in children younger than 12 than it is in adults. For infants, vomiting, pain, diarrhea, fever, irritability, grunting, and refusal to walk or limp are just a few of the nonlocalizing symptoms that lead to misdiagnosis and high rates of intestinal perforation. While the rates are low in children ages 2-5 years of age (<5%), the more classic signs and symptoms of right lower quadrant pain, vomiting, and fever are more common. As the incidence of appendicitis increases in school-aged children and adolescents, when the incidence peaks, so do the more common symptoms of vomiting, anorexia, and right lower quadrant pain.
Right lower quadrant pain can also be associated with Crohn disease, mesenteric adenitis associated with group A streptococcal pharyngitis, bacterial enterocolitis (particularly Yersinia enterocolitica and Campylobacter jejuni), Meckel diverticulitis, and intussusception. Right upper quadrant pain should prompt investigation for cholecystitis, cholelithiasis, Fitz-Hugh-Curtis syndrome, and right lower lobe pneumonia. Left upper quadrant pain often indicates splenomegaly, hemolytic crisis, or splenic trauma. Epigastric pain may indicate peptic disease (such as peptic ulcer disease, esophagitis secondary to gastroesophageal reflux disease, gastritis), or pancreatitis. Suprapubic pain can suggest a urinary tract infection (UTI), menstrual disorders, or pelvic inflammatory disease. Some diagnoses commonly have radiation of pain and should always be investigated—back pain can be seen with pancreatitis or UTI, and gallstones frequently are associated with shoulder pain.
—Questions regarding stool pattern and consistency are important in both acute and chronic abdominal pain. In the acute setting, diarrhea early in the history can point toward an infectious etiology such as viral or bacterial gastroenteritis. Additionally, examination of the rectum and stool gives important diagnostic information. While bloody mucoid or currant jelly stools are seen late in the course of intussusception, hemoccult positivity can be seen earlier.
For more chronic etiologies, such as constipation, irritable bowel syndrome, and inflammatory bowel disease, these questions can also clarify the diagnosis.
• Is there associated emesis?
—While vomiting can occur with several of the etiologies of abdominal pain, vomiting in the absence of abdominal pain usually indicates upper intestinal tract disease. Bilious emesis heralds obstruction.
• Can the examination reveal the etiology of the abdominal pain?
— When the diagnosis is unclear and surgical intervention remains a possibility, reassessment and reexamination by the same clinician is an important part of the evaluation. This is particularly important with diagnoses such as appendicitis where there is no definitive piece of historical examination or laboratory data that will make the diagnosis.
Certain physical examination findings suggest the diagnosis—Cullen sign (discoloration of the umbilicus) or Grey Turner sign (discoloration of the flank) with hemorrhagic pancreatitis; Murphy sign (pain with deep palpation of the right upper quadrant) with gallbladder disease; and Rovsing sign (pain in the right lower quadrant with palpation of the contralateral side) in appendicitis.
• Is there an ingestion or toxin exposure?
— Ingestion of certain medications or heavy metals (e.g., lead) can lead to chronic abdominal pain.
• Has there been a recent or preceding respiratory illness?
— An upper respiratory infection frequently precedes intussusception as a mesenteric lymph node is thought to act as the lead point.
• Is there any significant family history?
— This can be a key piece of history in diseases such as inflammatory bowel disease, familial Mediterranean fever, and cystic fibrosis.
• What is the child’s weight and height?
— Failure to thrive indicates a more chronic disease such as inflammatory bowel disease.
The following cases represent less common causes of abdominal pain in childhood.
HISTORY OF PRESENT ILLNESS
The patient was a 13-year-old male with a medical history significant for recurrent abdominal pain. The patient reported intermittent right upper quadrant pain during the last year. It occurred two to three times per week and lasted about 1 hour. It was sharp and stabbing in nature. It was not associated with eating or defecation and did not radiate. He reported easy bruising, but denied any epistaxis, bloody or tarry stools, headache, and nausea or vomiting. He did report a 2-month history of tea-colored urine and a 5-pound weight loss.
His medical history was unremarkable. He was a full-term infant with no complications.
T 37.3°C; RR 36/min; HR 80 bpm; BP 120/77 mmHg
Height 75th percentile; Weight 75th percentile
Initial examination revealed an alert and cooperative young man in no acute distress. Physical examination was remarkable for mild scleral icterus. There was good lung aeration bilaterally. On abdominal examination he had normoactive bowel sounds and tenderness to palpation in the right upper quadrant. Hepatosplenomegaly was present on abdominal examination with the liver 4 cm below the right costal margin (with a span of 10 cm) and the spleen 6 cm below the left costal margin. He was a Tanner stage IV male with normal genitalia and no evidence of trauma. The skin examination was significant for bruises on the lower extremities. His neurologic examination was normal.
Laboratory analysis revealed 3400 WBCs/mm3 with 2% bands, 61% segmented neutrophils, 27% lymphocytes, and 3% monocytes. The hemoglobin was 12.8 g/dL and there were 51 000 platelets/mm3. The erythrocyte sedimentation rate was slightly elevated at 12 mm/h. The hepatic function panel revealed a total bilirubin of 2.5 mg/dL; alkaline phosphatase, 450 U/L; albumin, 2.6 g/dL; and elevated transaminases with an aspartate amino-transferase, 266 U/L; alanine aminotransferase, 162 U/L; and a gamma-glutamyl transferase, 500 g/dL. Prothrombin (PT) and partial thromboplastin (PTT) times were 13 and 32 seconds, respectively. Fibrin split products, hepatitis A, B, C, and monospot testing were all negative. A urinalysis revealed small bilirubin, moderate blood (0-2 RBCs), and a urobilinogen of 2.0 mg.
COURSE OF ILLNESS
The patient was hospitalized and an emergent abdominal ultrasound was performed that showed portal venous thrombosis with evidence of portal hypertension, cirrhosis, cholelithiasis, and splenomegaly. There was no evidence of ascites. HIV ELISA was negative, ANCA was negative, and ANA was 1:80. Urine copper returned elevated at 296 μg/24 hours (normal range < 50 μg/24 hours), but the ceruloplasmin was within normal range at 53 mg/dL (range 25-63). A liver biopsy confirmed the diagnosis.
DISCUSSION CASE 7-1
The causes of liver disease, in particular hyper-bilirubinemia and cirrhosis, in the pediatric population are diverse. Common causes include infectious diseases such as viral infections (hepatitis A, B, and C; cytomegalovirus; coxsackie virus; Epstein-Barr virus), bacterial infections, fungal infections, and parasitic infections. Inflammatory causes include ulcerative colitis, ascending cholangitis, and autoimmune hepatitis. Drugs and toxins are another important etiology to explore as common medications such as acetaminophen and acetylsalicylic acid and toxins like iron can cause liver damage. The differential diagnosis also includes causes of biliary obstruction, such as cholecystitis, cholelithiasis, biliary atresia, arteriohepatic dysplasia (Alagille syndrome), primary sclerosing cholangitis, fibrosing pancreatitis, and choledochal cysts. There is a long and important list of genetic and metabolic diseases that must be ruled out and includes cystic fibrosis, alpha-1-antitrypsin deficiency, Wilson disease, and several others.
Gross appearance of the liver in a patient with a similar condition revealed micronodular cirrhosis (Figure 7-1A). Histologic examination revealed micronodular cirrhosis with portal-portal bridging, chronic portal inflammation, and fatty change (Figure 7-1B). Rhodanine stain demonstrated copper (red-brown particulate material) within hepatocytes (Figure 7-1C). The patient was treated with penicillamine and pyridoxine. During the next several months, there were improvements in liver function and a stable platelet count of 65 000/mm3. The diagnosis is Wilson disease.
FIGURE 7-1. Histopathology demonstrating A. Gross appearance of the liver. B . Masson trichrome stain, 100×. C. Rhodanine stain, 400×. (Photos courtesy of Dr. Bruce Pawel.)
Wilson disease, or hepatolenticular degeneration, was described by Kinnier Wilson in 1912 as a degenerative disease of the central nervous system with asymptomatic cirrhosis, but cases were first recognized as early as the 1880s. Wilson disease, the most common genetic disorder of copper metabolism, is a rare autosomal recessive disorder of copper metabolism. In Wilson disease, copper transport is affected by mutations in the ATP7B gene on chromosome 13. Recognition of more distinct mutations of the Wilson disease gene has increased the estimated incidence to as high as 1 in 30 000. The disease is found worldwide, but has higher rates in homogeneous, physically isolated, or culturally isolated populations.
Although copper is a vital trace element and coenzyme for several enzymatic systems, biliary excretion is important to keep the body’s balance of copper. In Wilson disease, the inherited defect in the biliary system’s excretion of copper leads to excess copper deposition in the brain, liver, and other organs. Copper’s toxic effects include the generation of free radicals, lipid peroxidation of membranes and DNA, inhibition of protein synthesis, and altered levels of cellular antioxidants.
CLINICAL PRESENTATION OF WILSON DISEASE
The clinical presentation of Wilson disease is variable, with cases presenting with hepatic, neurologic, and psychiatric manifestations or a combination of these. Hemolysis is seen most often in patients who present with acute liver failure. Although clinical presentation is rare before 5 years of age, symptomatic cases have been reported. Because initial copper accumulation occurs in the liver, in the pediatric population hepatic manifestations usually precede neurologic manifestations. Neurologic symptoms are more common in the second to third decade of life.
Missed or delayed diagnosis of Wilson disease stems from the nonspecific array of clinical manifestations. Very young patients who are diagnosed either through family screening or through the incidental finding of Kayser-Fleischer rings on examination are said to be asymptomatic or presymptomatic. There is even wide variability in the spectrum of liver disease seen ranging from asymptomatic with biochemical abnormalities to acute hepatitis, chronic active hepatitis, cirrhosis, and fulminant hepatic failure. There is a female predominance (4:1) of fulminant hepatic failure in Wilson disease. Central nervous system manifestations include neurologic symptoms (dystonia, tremors, dysarthria, gait disturbance, choreiform movements) and psychiatric symptoms (poor school performance, anxiety, depression, neuroses, psychoses). The ophthalmologic manifestation of the characteristic and diagnostically helpful Kayser-Fleisher rings is a result of accumulation of copper in the cornea and does not impact the function of the eye. Other tissues and systems in which copper deposition does have damaging effects include the endocrine, renal, skeletal, and cardiac systems. Coombs negative hemolytic anemia is a common complication of Wilson disease when there is acute liver failure and is thought to be secondary to hepatocellular necrosis with resulting release of copper ions in the circulation.
DIAGNOSTIC APPROACH TO WILSON DISEASE
The serious sequelae of a delayed diagnosis of Wilson disease indicate that the disease should be seriously considered and investigated in any patient between 3 and 55 years of age with any unexplained liver and neurologic disease. This is particularly important in children or adolescents with extrapyramidal or cerebellar motor disorders, atypical psychiatric disease, unexplained, hemolysis, and elevated transaminases either in the presence or absence of a family history of liver or neurologic disease. Additionally, individuals who are asymptomatic but whose family member has a confirmed or suspected case of Wilson disease should be investigated. Because the classic triad of hepatic disease, neurologic involvement, and Kayser-Fleischer rings is usually not present in the pediatric population, a combination of clinical findings, biochemical tests, and sometimes genetic testing is necessary to establish the diagnosis.
The American Association for the Study of Liver Diseases (AASLD) updated practice guidelines on Wilson disease in 2008. The AASLD also has a variety of algorithms to approach the diagnosis of the disease.
The AASLD recommends screening patients older than 3 years who have liver disease of unclear etiology, particularly those with accompanying neurologic manifestations. Screening should particularly focus on patients with autoimmune hepatitis, patients with hemolysis in the setting of acute hepatic failure, and any first-degree relatives of newly diagnosed patients.
Ophthalmology examination. Screening and diagnostic testing must include a slit-lamp examination. Ophthalmic slit-lamp of the cornea can demonstrate the characteristic golden-green granular deposits of Kayser-Fleischer rings in patients with concomitant neurologic manifestations. Given the presence of similar corneal rings in other diseases, and the frequent absence of Kayser-Fleischer rings in the pediatric population, their presence or absence neither confirms nor negates the presence of the disease. In the presence of neurologic disease, MRI of the brain can delineate the changes commonly seen in the basal ganglia.
Serum ceruloplasmin. Ceruloplasmin is a serum glycoprotein that is synthesized in the liver and contains six copper atoms. The gene affected in Wilson disease affects this transport system for copper and leads to decreased incorporation of copper into ceruloplasmin and decreased circulating levels of copper. Thus, in Wilson disease serum ceruloplasmin is decreased. Ceruloplasmin levels less than 50 mg/L support the diagnosis, but normal levels do not rule it out. Other diseases such as protein-losing enteropathy, nephrotic syndrome, and even heterozygotes for Wilson disease can have low ceruloplasmin levels. Additionally, it is an acute phase reactant and can be in the normal range in individuals with Wilson disease. Its production is also induced by hormonal contraceptives.
Urinary copper. Serum copper levels cannot be used in diagnosis of Wilson disease, but it is helpful in monitoring adherence and response to therapy. Urinary copper excretion is usually very high (> 100 μg/24 h) in symptomatic patients, but even greater than 40 μg/24 h is not normal and should be further worked up.
Liver biopsy. Liver copper concentration of more than 250 μg/g of dry tissue (five times the normal concentration) is diagnostic for the disease.
Brain imaging. MRI of the brain looking specifically for structural abnormalities of the basal ganglia can be performed for patients with neurologic manifestation of Wilson disease.
Genetic testing. Genetic studies, specifically mutation analysis by whole gene sequencing, are best reserved for patients in whom the other diagnostic studies have not established the diagnosis but for whom there is still a strong suspicion. Specific known mutation testing can be used to screen first-degree relatives of patients with Wilson disease.
Immediately after confirmation of the disease, therapy should be initiated and continued for the remainder of the patient’s life. The goal of therapy is to eliminate symptoms and prevent disease progression. The armamentarium of treatment includes dietary measures, pharmacologic therapy, and liver transplantation.
While a low-copper diet does not play a great role in the treatment of the disease, it is important for patients to avoid heavy copper-containing foods like shellfish, nuts, and chocolate.
Penicillamine, an orally administrated copper chelator, decreases the body’s pool of copper by increasing urinary copper excretion, and can effectively reduce or eliminate the effects of copper toxicity. The antipyridoxine effects of penicillamine necessitate the concomitant administration of pyridoxine three times a week. The dose can be increased if there is no clinical improvement or decrease in excretion of urinary copper. Adherence to therapy is followed with measurement of either urinary or serum copper, and serum ceruloplasmin levels. Side effects are more common with higher doses. Sensitivity reactions which include fever, rash, leukopenia, thrombocytopenia, and lymphadenopathy can often be overcome with gradual reinstitution of the medication. Penicillamine has consistently shown the successful results, with improvement in liver biopsy findings over time.
Trientine hydrochloride is an alternative chelating agent, particularly in patients with side effects such as nephrotoxicity and lupus-like syndrome from penicillamine. Although there is less urinary copper excretion with this agent, it appears to be equally effective clinically. Iron deficiency or sideroblastic anemia can be seen.
Zinc salts taken three times daily seems to protect hepatocytes by inducing metallothionein in enterocytes which blocks the intestinal absorption of copper. Other experimental chelators (tetrathiomolybdate) are available.
The indications for liver transplantation in patients with liver disease include acute hepatic failure (especially in association with hemolysis), advanced cirrhosis with decompensation, and hepatic insufficiency that progresses in the face of adequate treatment with chelation therapy. Liver transplantation in patients with only neurologic disease remains controversial. Patients receiving transplant display total reversal of the biochemical abnormalities they had previously.
Future directions of treatment include gene therapy, but presently early detection and chelation therapy are still the most important aspects of treatment.
1. Tunnessen WW. Jaundice. In: Tunnessen WW, ed. Signs and Symptoms in Pediatrics. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 1999:102-112.
2. Chitkara DK, Pleskow RG, Grand RJ. Wilson disease. In: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, eds. Pediatric Gastrointestinal Disease. 3rd ed. Hamilton: B.C. Decker, Inc.; 2000:1171-1184.
3. Pearce JM. Wilson’s disease. J Neurol Neurosurg Psychiatry. 1997;63:174.
4. Robertson WM. Wilson’s disease. Arch Neurol. 2000;57:276-277.
5. Schilsky ML, Tavill AS. Wilson’s disease. In: Schiff ER, Sorell MG, Maddrey WC, eds. Schiff’s Diseases of the Liver. 10th ed. Philadelphia: Lippincott Williams & Wilkins; 2007.
6. Gaffney D, Fell GS, O’Reilly DS. ACP best practice no. 163 Wilson’s disease: acute and presymptomatic laboratory diagnosis and monitoring. J Clin Pathol. 2000;53:807-812.
7. Sternlieb I. Wilson’s disease. Clin Liver Dis. 2000;4:229-239.
8. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000;137:719-722.
9. Balistreri WF, Carey RG. Wilson disease. In: Kleigman RM et al. eds. Nelson’s Textbook of Pediatrics. 19th ed. Philadelphia: Elsevier Saunders; 2011.
10. Khanna A, Jain A, Eghtesad B, Rakela J. Liver transplantation for metabolic liver diseases. Surg Clin North Am. 1999;79:153-162.
11. Durand F, Bernuau J, Giostra E, et al. Wilson’s disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine. Gut. 2001;48:849-852.
12. Roberts EA, Schilsky ML. American Association for Study of Liver Diseases (AASLD) diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089-2111.
13. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J Hepatol. 2012;56:671.
HISTORY OF PRESENT ILLNESS
A 5-year-old female was well until 2 days prior to presentation when she developed emesis and fever. On the day of presentation she had two bouts of nonbloody, nonbilious emesis and continued to have fever as high as 103°F. The patient pointed to the periumbilical area when describing her pain. Her parents also reported that she has had ear pain and a sore throat for the past 3 days. They deny cough, dysuria, and frequency. She has had a good appetite and no weight loss. The parents reported that about six months ago the patient had an episode of abdominal pain. Her primary care physician reportedly felt stool in the abdomen and started her on prune juice which she stopped using regularly.
Birth history was normal with no complications at delivery or birth. She had mild asthma but no hospitalizations. Three years prior, she was exposed to tuberculosis and had a positive tuberculin skin test. She was treated with isoniazid for 9 months.
T 39°C; RR 24/min; HR 119 bpm; BP 106/65 mmHg
Weight 22.9 kg, 70th percentile; Height 120 cm, 70th percentile
Physical examination revealed an alert, well nourished, and interactive child. There was no conjunctival pallor. The tonsils were 2+ bilaterally with mild erythema of the posterior pharynx. There was shotty cervical lymphadenopathy with enlarged superior cervical lymph nodes that were mobile and nontender. The lungs were clear and there was an I/IV systolic ejection murmur at the left lower sternal border. The abdominal examination revealed normal bowel sounds. On palpation, the abdomen was nontender, but a firm mass was felt in the periumbilical region and left upper quadrant. The mass had sharp borders, was approximately 6 cm × 4 cm, and was slightly mobile. Rectal examination revealed good rectal tone and the rectal vault was full of stool which was negative for occult blood. She was a Tanner I female with no inguinal lymphadenopathy. Her neurologic examination was normal.
Laboratory analysis revealed 11 500 WBCs/mm3 with 2% band forms, 62% segmented neutrophils, 24% lymphocytes, and 9% monocytes. The hemoglobin was 14.3 g/dL and the platelet count was 251 000/mm3. Electrolytes, blood urea nitrogen, creatinine, calcium, magnesium, and phosphorus were normal. Liver function tests were normal. The uric acid was 5.3 mg/dL and the lactate dehydrogenase, 747 U/L. The abdominal radiograph revealed a large amount of stool.
COURSE OF ILLNESS
A fleets enema was given with good results, but the mass was still palpable. Abdominal MRI suggested a diagnostic category (Figure 7-2). Biopsy of the mass confirmed the diagnosis.
FIGURE 7-2. Abdominal MRI.