Pediatrics · Year 3 · from Pediatrics

Case 3: Celiac Disease

Patient Demographics

  • Age: 4-year-old female
  • Sex: Female

Chief Complaint

"She has chronic diarrhea and isn't growing well."

History of Present Illness

A 4-year-old female is brought in by her parents due to concerns about poor weight gain and chronic loose stools over the past 18 months. She has 3-5 loose, pale, foul-smelling, bulky stools daily. She was doing well until around age 2.5 when parents noticed her belly became more "bloated" and stools changed. She has poor appetite and is described as "picky" but eats bread, pasta, and crackers. She often complains of "tummy aches." Growth records show she has fallen from the 50th percentile for weight at age 2 to the 10th percentile now. She is irritable and fatigues easily. No blood in stools, no vomiting, no fever. Family history includes a maternal aunt with "gluten intolerance" and grandmother with thyroid disease.

Growth Parameters

  • Weight: 13.5 kg (10th percentile, previously 50th)
  • Height: 97 cm (15th percentile, previously 40th)
  • BMI: 14.3 kg/m2 (8th percentile)
  • Previous weight at age 2: 12 kg (50th percentile)

Physical Examination

  • General: Thin girl with prominent abdomen, appears pale and tired
  • Vital signs: Normal
  • HEENT: Pale conjunctivae, angular cheilitis, dental enamel defects
  • Cardiovascular: Normal
  • Respiratory: Normal
  • Abdomen: Distended, tympanic, non-tender, no organomegaly
  • Musculoskeletal: Decreased muscle mass, especially gluteal wasting
  • Skin: Dry, no rash
  • Neurologic: Mildly irritable, appropriate for age

Workup

  • CBC: Hgb 9.8 g/dL, MCV 72 fL (microcytic anemia), WBC and platelets normal
  • Iron studies: Ferritin 8 ng/mL (low), TIBC elevated (iron deficiency)
  • CMP: Albumin 3.2 g/dL (low), otherwise normal
  • Tissue transglutaminase IgA (tTG-IgA): 185 U/mL (normal <20, strongly positive)
  • Total IgA: 95 mg/dL (normal - rules out IgA deficiency)
  • Endomysial antibody (EMA): Positive
  • Stool studies: Fat malabsorption (increased fecal fat)
  • Upper endoscopy with duodenal biopsy:
  • Villous atrophy
  • Crypt hyperplasia
  • Increased intraepithelial lymphocytes
  • Marsh classification: Stage 3b

Diagnosis

Celiac disease with malabsorption, iron deficiency anemia, and failure to thrive

Clinical Reasoning

This child presents with classic celiac disease: chronic diarrhea with steatorrhea (pale, foul-smelling, bulky stools), abdominal distension, failure to thrive, irritability, and iron deficiency anemia. The onset after gluten introduction (typically after age 2 when dietary gluten increases) and positive family history support the diagnosis. The strongly positive tTG-IgA with positive EMA and characteristic duodenal biopsy (villous atrophy, crypt hyperplasia, increased IELs) confirm the diagnosis. The normal total IgA rules out IgA deficiency, which would cause false-negative serologies.

Management

  1. Strict lifelong gluten-free diet:
  • Eliminate wheat, barley, rye
  • Oats are controversial (may be contaminated; pure oats tolerated by most)
  • Read all food labels
  • Avoid cross-contamination
  1. Nutritional supplementation:
  • Iron supplementation until anemia resolves
  • Vitamin D and calcium (assess bone density if deficient)
  • Multivitamin with B vitamins
  1. Referral to registered dietitian experienced in celiac disease
  2. Family education:
  • Celiac support groups
  • Gluten-free living resources
  1. Screen first-degree relatives: tTG-IgA (10% risk)
  2. Associated condition screening:
  • Thyroid function (TSH)
  • Type 1 diabetes screening if symptoms
  1. Monitoring:
  • Repeat tTG-IgA in 6-12 months (should decrease with compliance)
  • Monitor growth, symptoms, nutritional status
  • Repeat endoscopy generally not needed if clinical/serologic response
  1. Pneumococcal vaccine (functional hyposplenism in celiac)

Clinical Image

Image Description: Duodenal biopsy histopathology demonstrating villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes characteristic of celiac disease.

Source: Wikimedia Commons URL: https://commons.wikimedia.org/wiki/File:Celiac_Disease.jpg License: CC BY-SA 3.0

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