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Introduction: Celiac disease is a common cause of malabsorption of nutrients and large number of individuals has atypical
manifestations as first presented symptom. Although malabsorption is generally considered to be a gastrointestinal problem,
the effects of malabsorption extend far beyond the gastrointestinal tract. Malabsorption can trigger neurologic dysfunction due
to immune related processes and it is difficult to differentiate with other neurologic disease. So we report a case of celiac disease
mimicking amyotrophic lateral sclerosis.
Methods: We retrospectively reviewed the medical records of a patient diagnosed for the celiac disease
Case: A 60-year-old male visited hospital with a year history of progressive left sided weakness and impaired left ankle dorsiflexion
without sensory symptom or sign. When he visited a hospital first, he suspected Lyme disease, because there was no abnormal
finding in brain and spine MRI, electromyography but Borreliaburgdorferi antibody was positive in laboratory finding. So he took
doxycycline for a month. After 3 month, he visited other neurologic clinic for progressed neurologic symptom and presented bilateral
muscle atrophy and hyperreflexia of biceps and brachioradialis, so he repeated electromyography and nerve conduction study and
demonstrated widespread denervation. So he was diagnosed with amyotrophic lateral sclerosis following these finding, and he has
taken riluzole since then. But left sided weakness was progressed and gastrointestinal symptoms include diarrhea and poor oral intake
and weight loss newly developed. Evaluation for gastrointestinal symptom, he had esophagogastroduodenoscopy and colonoscopy
and loss of villi was seen in proximal duodenum, so biopsy was done. We can detect characteristic histologic change on biopsy
specimen include severe lymphoplasma cell infilatration with flattened villi, and tissue transglutaminase IgA was strongly positive
(>100 U/mL). So he was finally diagnosed with celiac disease and started gluten-free diet.
Conclusion: Celiac disease with neurologic manifestation as first presented symptom can be misconceived as neurologic disease like
amyotrophic lateral sclerosis, so it is important to examine patients carefully for not missing any clue to suspect celiac disease