Celiac disease presenting As recurrent encephalopathy and seizures

Celiac disease is an immune-mediated enteropathy triggered by gluten in genetically predisposed individuals. Although gastrointestinal manifestations predominate, neurological features such as seizures, ataxia, and encephalopathy may occur and are often under-recognized in children, particularly in the absence of intestinal symptoms.

A 12-year-old girl presented with recurrent generalized seizures and episodic encephalopathy since age 10. Extensive evaluation including cerebrospinal fluid analysis, autoimmune encephalitis panel, MRI brain, and infectious workup was unremarkable. She was treated as MIS-C and autoimmune encephalitis during multiple hospitalizations, with persistent breakthrough seizures despite antiepileptic therapy. Autoimmune screening revealed positive anti-endomysial IgA. Duodenal biopsy showed Marsh 3B changes, confirming celiac disease. A strict gluten-free diet was initiated.

The child remained seizure-free over two years with significant clinical improvement, highlighting gluten-sensitive epilepsy as an important, treatable extraintestinal manifestation of pediatric celiac disease.