Cara E. Vernacchia, DO
Fellow Physician
Children's Hospital of Colorado
Denver, Colorado, United States
Matthew Mayer, MD
Attending Physician
Children's Hospital of Colorado
Aurora, Colorado, United States
An 8-year-old boy with autism, developmental speech delays, and family history of three siblings with autism, presented to the emergency department with functional decline in language, ambulation, and behavior, and leg pain over the last two years. Examination revealed no focal neurologic deficits, with intact strength, reflexes, and no ataxia, but he demonstrated intermittent refusals to ambulate. Extensive work-up was performed and negative, including MRI brain and spine, creatinine kinase, vitamin B12, human immunodeficiency virus, thyroid stimulating hormone, folic acid, vitamin E, heavy metals, and copper. Additional labs revealed elevated tissue transglutaminase IgA antibodies, and an esophagogastroduodenoscopy confirmed the diagnosis of celiac disease. His symptoms were thought to be due to neurologic and psychiatric manifestations of celiac disease with a possible overlay of functional neurological disorder. He was referred to rehabilitation clinic for equipment and therapy needs, referred for dialectical behavioral therapy, and started on a gluten-free diet.
Neurologic manifestations of celiac disease are rare, with studies indicating an incidence of about 6-10%. Manifestations can include cognitive disorders, dementia, myelopathy, neuropathy, vasculitis, anxiety/depression, oppositional defiant, amongst others. Interestingly, many patients do not display gastrointestinal symptoms, yet more than 90% of patients improve following implementation of a gluten-free diet.
This case demonstrates motor and behavioral regression as a unique and rare neurologic presenting symptom of celiac disease. Two published cases to date have demonstrated motor regression as a presenting symptom of celiac disease in children, although both these cases were in toddlers.
Celiac disease can have neurologic or psychiatric manifestations as the presenting symptom, and in children, this can manifest as motor or behavioral regressions. It is important to maintain a broad differential when evaluating regression in children and approaching cases of neurologic manifestations of celiac disease with a broad, multimodal approach.
