Recurrent encephalopathy and seizures preceded any celiac diagnosis.

The first episodes

At 10 years old, a girl began having multiple episodes of seizures. The first occurred in February 2021, when she was hospitalized with a fever, difficulty maintaining her balance, and a decreased appetite for three days. While she did not have an altered sensorium at that moment, the episode marked the beginning of a years-long medical crisis.

Psychiatric and inflammatory labels

During her initial hospitalization, an MRI of her brain and cerebrospinal fluid analysis were both normal. A COVID spike antibody test returned positive, and she was treated for suspected multi-system inflammatory syndrome in children (MIS-C). As she began to experience behavioral changes, she was prescribed the antipsychotic risperidone and the antidepressant escitalopram.

Over the next year, she was hospitalized four more times for breakthrough seizures. In November 2022, a severe illness with low blood pressure and bleeding under the skin necessitated a ventilator and a month-long hospital stay. Though she was suspected to have autoimmune encephalitis, tests for it were repeated twice and remained negative. She was discharged on the anti-seizure medications levetiracetam and clobazam.

The intestinal clue

In July 2022, she developed abdominal pain and a jejunojejunal intussusception, where one part of the intestine slides into another. By December 2022, an autoimmune workup detected positive anti-endomysial IgA at a titer of 1:10, though other common markers for celiac disease, such as anti-tissue transglutaminase (TTG), were negative.

The patient continued to suffer. In April 2023, she was hospitalized again for encephalopathy—a broad term for brain dysfunction. At 12 years old, she was referred for a gastrointestinal endoscopy to investigate the antibodies found months earlier.

A diagnosis in the gut

Small bowel imaging initially appeared normal. However, a biopsy of the duodenum revealed the true nature of her illness. The pathology showed partial villous atrophy, crypt hyperplasia, and chronic inflammatory changes consistent with Marsh 3B celiac disease. Despite her primary symptoms being neurological—seizures, gait imbalance, and altered sensorium—she had high concentrations of intraepithelial lymphocytes in her gut.

Recovery on a new diet

The patient was started on a strict gluten-free diet in addition to her antiepileptic therapy. By November 2025, she had been symptom-free for two years. She experienced no further breakthrough seizures or episodes of encephalopathy, and her weight increased from 39 kg to 55 kg. The case highlights that for some children, celiac disease can manifest as gluten-sensitive epilepsy and encephalopathy, even when gastrointestinal symptoms are minimal or absent.