Opsoclonus-myoclonus associated with celiac disease

Area of Science:

• Neurology
• Gastroenterology
• Immunology

Background:

• Celiac disease is an autoimmune disorder triggered by gluten ingestion.
• Neurologic manifestations are increasingly recognized in celiac disease, with cerebellar ataxia being the most common.
• Opsoclonus-myoclonus syndrome (OMS) is a rare autoimmune disorder characterized by chaotic eye movements and myoclonic jerks.

Observation:

• A 2-year-old male presented with severe opsoclonus-myoclonus syndrome, including ataxia, rendering him unable to sit or walk.
• Initial investigations, including brain MRI and infectious serology, were unremarkable.
• Cerebrospinal fluid showed oligoclonal bands, while blood autoantibody testing revealed antigliadin and anti-endomysial antibodies.

Findings:

• Duodenal biopsy confirmed villous atrophy, establishing the diagnosis of celiac disease.
• The patient's neurological symptoms were attributed to celiac disease, despite normal initial blood work and negative cerebrospinal fluid autoantibodies.
• This case highlights that celiac disease can manifest primarily with neurological symptoms.

Implications:

• The findings suggest that celiac disease should be considered in the differential diagnosis of pediatric opsoclonus-myoclonus syndrome.
• Routine screening for celiac disease, including autoantibody testing and duodenal biopsy, may be warranted in children presenting with unexplained neurological disorders.
• Early diagnosis and treatment of celiac disease can potentially improve neurological outcomes.