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Genetic disorder in carbohydrates metabolism: hereditary fructose intolerance associated with celiac disease

Daniela Păcurar1, Gabriela Leşanu, Irina Dijmărescu

  • 1Emergency Department, "Grigore Alexandrescu" Emergency Hospital for Children, Bucharest, Romania; if_boian@yahoo.com.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|December 19, 2017
PubMed

Insights

This rare case highlights a child with celiac disease (CD) and hereditary fructose intolerance (HFI). Early diagnosis and dietary management resolved symptoms in this unique presentation.

Area of Science:

  • Pediatric Gastroenterology
  • Metabolic Disorders
  • Immunology

Background:

  • Celiac disease (CD) is an immune-mediated disorder triggered by gluten.
  • Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder.
  • Associations between CD and HFI are exceptionally uncommon.

Observation:

  • A 5-year-old boy with CD presented with Reye's-like syndrome, including seizures and hypoglycemia.
  • Despite a gluten-free diet for three years, the patient exhibited persistent symptoms like stunting and hepatomegaly.
  • Aversion to fruits and a positive fructose tolerance test indicated HFI.

Findings:

  • Liver biopsy revealed hepatic steatosis and mitochondrial damage.
  • The patient was diagnosed with both celiac disease and hereditary fructose intolerance.
  • Dietary management for HFI led to complete symptom resolution.

Implications:

  • This case underscores the importance of considering rare metabolic disorders in children with persistent symptoms despite treatment for common conditions.
  • Early diagnosis and appropriate dietary interventions are crucial for managing co-occurring CD and HFI.
  • Highlights the diagnostic challenge in differentiating overlapping symptoms of gastrointestinal and metabolic diseases.

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