Symptom-Based Diagnosis in Pediatrics (CHOP Morning Report) 1st Ed.

CASE 6-6

Twenty-One-Month-Old Boy




A 21-month-old boy presented with weight loss and crankiness. He was well until 5 months prior to admission when he developed otitis media. This was treated with amoxicillin. The otitis media seemed to recur 1 month later and he was treated with amoxicillin-clavulanate followed by cefuroxime. At the same time he began to develop 2-4 large, mushy, foul-smelling, pale, greasy bowel movements per day. He also seemed to have become a finicky eater with a very variable appetite. The patient also has developed intermittent vomiting and has now lost approximately three pounds and has not had linear growth in the past 3 months. Vomiting is often in the late day or evening, is non-bloody and nonbilious.


This was a former full-term infant born to a G1P1 mother. The pregnancy was complicated by preterm labor at 32 weeks gestation. He was born through meconium-stained fluid with a birth weight of 3700 g. He had been developing normally but recently was asking to be carried and not willing to walk for long periods of time. He tires easily but will not sleep. His only medication is a multivitamin. The mother is 29 years old and works as a nurse at a nearby university. The 30-year-old father works as a materials manager at a pharmaceutical company. The family history was remarkable for a maternal grandmother with ovarian cancer and a maternal grandfather with congestive heart failure and stroke. The family had been to Puerto Rico 5 months prior. The diet history revealed that the patient was initially breast fed, changed to Gerber formula with iron at 4.5 months; cereals were introduced at 6 months of age, followed by vegetables, fruits, and meats; he began to refuse meat at 1 year of age.


Weight 8.77 kg (<5th percentile; 50th percentile for a 7-month-old); Height 80.5 cm (5th percentile; 50th percentile for a 13-month-old).

In general, the child was pale, wasted, and irritable. There were no oral or nasal ulcers. The neck was supple. There were many small cervical lymph nodes. The lungs were clear to auscultation. The abdomen was distended. There was no hepatosplenomegaly. There was a prominent vascular pattern on the abdomen as well as granular subcutaneous palpable patter. The genitourinary examination was normal. The remainder of the examination was normal.


White blood cells 9.300/mm3 (7% band forms, 28% segmented neutrophils, 52% lymphocytes, 4% atypical lymphocytes, and 9% monocytes).

Hemoglobin, 12.7 g/dL; platelets, 417 000/mm3. The mean corpuscular volume was 83 fL; reticulocyte count was 1.3%; ESR, 2 mm/h; prothrombin time, 14.2 seconds; partial thromboplastin time, 31.5 seconds; creatinine, 0.5 mg/dL; albumin, 3.8 mg/dL; cholesterol, 142; triglycerides, 172; ALT, 134 IU/L; AST, 98 IU/L; LDH, 600; sweat test was normal.


In the hospital, upper endoscopy revealed flat villous atrophy of duodenum and acute inflammation of lamina propria. What is the most likely diagnosis?



The differential diagnosis of weight loss is very extensive and potentially involves almost every organ system. For this child, who had grown and developed somewhat normally, one would not expect a psychosocial cause unless there had been some recent change in the child’s family constitution or living environment. The loss of weight and linear growth over a short period of time suggest an organic cause. The findings of pallor and abdominal distention would also suggest narrowing of the differential diagnosis to a disease-based cause.


The diagnosis is celiac disease. This is a genetically predisposing disease that manifests in children who eat gluten products or related peptides from other grains. Once exposed to gluten, there is an immunologically triggered reaction to the absorptive surface of the small bowel.


With newer diagnostic tests available the incidence of the disorder has increased. In people of European background, it has been identified in 1:250 of the general population. It has been identified all around the world.


The clinical presentations of celiac disease are many. The classic presentation is that of the case presented—weight loss and growth failure in the second year of life. Table 6-11 identifies other manifestations of the disease. Malabsorption prior to institution of a gluten-free diet may lead to nutritional deficiencies, including deficiency of iron, folic acid, and zinc.

TABLE 6-11. Clinical manifestations of celiac disease. “Classical” Gastrointestinal Form

“Classical” Gastrointestinal Form

Age of onset under 2 years; diarrhea, failure to thrive, abdominal distension, proximal muscle wasting, irritability

Non-“classical” Gastrointestinal Form

Age of onset childhood to adulthood; diarrhea, intermittent or mild, abdominal pain, bloating, nausea, vomiting, change in appetite, constipation

Nongastrointestinal Manifestations

Musculoskeletal system: Short stature, rickets, osteoporosis, dental enamel defects, arthritis/arthralgia, myopathy

Skin and mucous membranes: Dermatitis herpetiformis, atopic dermatitis, aphthous stomatitis

Reproductive system: Delayed puberty, infertility, recurrent abortions, menstrual irregularities

Hematologic system: Anemia (iron, folate, B12), leukopenia, vitamin K deficiency, thrombocytopenia

Central nervous system: Behavioral changes, epilepsy, dementia, cerebellar degeneration

Associated Conditions

Autoimmune disorders: Type I diabetes mellitus, autoimmune thyroid disease, SjImagegren syndrome, collagen vascular disease, liver disease (PBC), IgA glomerulonephritis

Miscellaneous associations: Selective IgA deficiency, Down syndrome, hyposplenism, colitis

Asymptomatic Form

Patients identified through screening studies


The diagnosis has been made by biopsy of the small intestine. Biopsy is the time-proven method and should be made if there is a clinical suspicion despite enzyme test. The biopsy shows flat mucosa with villous atrophy and an increased number of lymphocytes.

Serologic testing. The serologic testing for the disease has improved to the point where serologic screening tests can be used to identify patients in whom intestinal biopsy is warranted. Antigliaden antibodies of both IgG and IgA are measured. Also measurable are antismooth muscle antibodies including antiendomysium and antireticular (IgA). The most recently used test shows IgA type antibody to tissue transglutaminase (tTG). The sensitivity of tTG antibodies is approximately 90% and the specificity is approximately 95% compared with intestinal biopsy. These values mean that most children with celiac disease will demonstrate antibodies to tTG and that false-positive results are relatively uncommon.


The therapy involves a lifelong removal of gluten from the diet. This is a difficult challenge for children and their parents but is successful.


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