Malabsorption Disorder in Children: Model Clinical case and Viva Q&A

Patient Presentation

A 2-year-old boy presents with chronic diarrhea, poor weight gain, and irritability. Parents report he was growing normally until introduction of solid foods at 6 months, after which he developed recurring loose stools and started showing less interest in eating.

Key Symptoms:

• Chronic diarrhea (loose, foul-smelling stools)
• Growth failure (weight dropped from 50th to 5th percentile)
• Distended abdomen
• Irritability and behavioral changes
• Onset of symptoms coincided with introduction of cereals

Click to Read: Malabsorption

Past Medical History

• Full-term vaginal delivery, birth weight 3.4 kg
• Normal growth and development until 6 months
• No major illnesses or hospitalizations
• Vaccinations up to date
• Family History: Maternal aunt with celiac disease

Physical Examination

Growth Parameters:

• Weight: 10.2 kg (5th percentile)
• Height: 84 cm (15th percentile)
• Previous growth records show declining percentiles

Physical Findings:

• General: Irritable child, appears wasted with minimal subcutaneous fat
• Skin: Dry, poor skin turgor
• Abdomen: Distended, tympanic, no organomegaly
• Extremities: Wasted buttocks, thin limbs
• Neurological: Irritable but age-appropriate development
• Musculoskeletal: Reduced muscle mass

Laboratory Findings

Initial Studies:

• CBC:
  • Hemoglobin: 10.2 g/dL (low)
  • MCV: 75 fL (low)
  • WBC and platelets: Normal
• Iron Studies:
  • Ferritin: 8 ng/mL (low)
  • Iron: 35 μg/dL (low)
• Vitamins:
  • Vitamin D: 15 ng/mL (low)
  • Vitamin A: Low
  • Vitamin E: Low

Celiac-Specific Testing:

• tTG-IgA: 120 U/mL (strongly positive)
• Total IgA: Normal
• Endomysial antibodies: Positive
• Deamidated gliadin peptide antibodies: Positive

Additional Investigations

• Upper Endoscopy:
  • Duodenal biopsy shows villous atrophy
  • Increased intraepithelial lymphocytes
  • Crypt hyperplasia
• Bone Age: Delayed by 1 year

Assessment

Primary Diagnosis:

Celiac Disease with malabsorption

Supporting Evidence:

• Classic presentation with failure to thrive
• Positive celiac serology
• Confirmatory duodenal biopsy
• Family history
• Temporal relationship with gluten introduction

Management Plan

Immediate Interventions:

1. Strict gluten-free diet initiation with dietitian consultation
2. Nutritional rehabilitation:
   • Iron supplementation
   • Vitamin D supplementation
   • Multivitamin with minerals
3. Parent education and support
4. Screening of first-degree relatives

Monitoring Plan:

• Monthly weight checks
• Serology monitoring at 6 months
• Regular nutritional assessment
• Annual follow-up endoscopy consideration

Follow-up and Prognosis

Expected Course:

• Clinical improvement within weeks of gluten elimination
• Normalization of antibodies within 12-18 months
• Catch-up growth with proper dietary adherence
• Resolution of nutrient deficiencies

Long-term Considerations:

• Lifelong gluten-free diet necessity
• Regular medical follow-up
• Bone health monitoring
• Psychosocial support
• School/daycare coordination

Learning Points

Critical Concepts:

1. Malabsorption symptoms can be subtle and gradual
2. Growth failure is a crucial early sign
3. Serological testing should include total IgA
4. Biopsy remains the gold standard for diagnosis
5. Strict dietary compliance is essential for recovery

Differential Diagnosis:

• Cystic Fibrosis
• Cow's Milk Protein Allergy
• Inflammatory Bowel Disease
• Giardiasis
• Other food intolerances
• Primary immunodeficiencies

2. Clinical Presentations of Malabsorption Disorders in Children

1. Celiac Disease:
   • Chronic diarrhea
   • Failure to thrive or weight loss
   • Abdominal distension and pain
   • Irritability and mood changes
   • Delayed puberty in adolescents
2. Cystic Fibrosis:
   • Recurrent respiratory infections
   • Failure to thrive
   • Greasy, foul-smelling stools (steatorrhea)
   • Salty-tasting skin
   • Nasal polyps
3. Lactose Intolerance:
   • Abdominal pain and bloating after consuming dairy products
   • Diarrhea
   • Nausea and sometimes vomiting
   • Excessive gas and flatulence
4. Short Bowel Syndrome:
   • Chronic diarrhea
   • Dehydration
   • Malnutrition and failure to thrive
   • Electrolyte imbalances
   • Vitamin and mineral deficiencies
5. Pancreatic Insufficiency:
   • Steatorrhea
   • Poor weight gain
   • Abdominal pain
   • Fat-soluble vitamin deficiencies (A, D, E, K)
6. Bile Acid Malabsorption:
   • Chronic watery diarrhea
   • Abdominal pain
   • Bloating
   • Fatty food intolerance
7. Giardiasis:
   • Acute or chronic diarrhea
   • Abdominal cramps
   • Bloating and excessive gas
   • Nausea
   • Weight loss
8. Cow's Milk Protein Allergy:
   • Diarrhea or constipation
   • Vomiting
   • Abdominal pain
   • Skin rashes (eczema)
   • Poor growth

Knowledge Check: Question and Answers

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30

Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.