Osteomalacic myopathy due to celiac disease

Area of Science:

• Gastroenterology
• Neurology
• Endocrinology

Background:

• Celiac disease is a gluten-sensitive enteropathy causing small intestine mucosal damage and malabsorption.
• Neurological disorders are known complications of celiac disease, but the association is not fully understood.
• Osteomalacia due to vitamin D deficiency is a recognized complication, though severe osteomalacic myopathy as the sole presentation is rare.

Purpose of the Study:

• To present two rare cases of osteomalacic myopathy as the primary manifestation of celiac disease.
• To highlight the successful treatment and recovery in these patients.
• To emphasize the importance of considering celiac disease in young patients with myopathy, even with atypical findings.

Main Methods:

• Case report of two patients presenting with severe myopathy.
• Diagnostic work-up for celiac disease and osteomalacia.
• Treatment with appropriate dietary and medical interventions.

Main Results:

• Both patients exhibited severe osteomalacic myopathy as the sole presenting symptom of celiac disease.
• Successful treatment resulted in full clinical recovery for both individuals.
• A unique observation in both cases was the presence of brisk reflexes, the mechanism of which remains unclear.

Conclusions:

• Severe osteomalacic myopathy can be an unusual but treatable initial presentation of celiac disease.
• Celiac disease screening should be considered in young patients with myopathy, irrespective of other typical symptoms.
• The presence of brisk reflexes in this context warrants further investigation.