Intest Res.  2017 Oct;15(4):540-542. 10.5217/ir.2017.15.4.540.

A case of celiac disease with neurologic manifestations misdiagnosed as amyotrophic lateral sclerosis

• Ham H
• Lee BI
• Oh HJ
• Park SH
• Kim JS
• Park JM
• Cho YS
• Choi MG

• KMID: 2396406
• DOI: http://doi.org/10.5217/ir.2017.15.4.540

Abstract

Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS). The patient was a sexagenary man with a history of progressive motor weakness for 2 years. He was highly suspected as having ALS. During evaluation of his neurological symptoms, esophagogastroduodenoscopy (EGD) was performed because he had experienced loose stools and weight loss for the previous 7 months. On EGD, the duodenal mucosa appeared smooth. A biopsy revealed severe lymphoplasma cell infiltration with flattened villi. His serum endomysial antibody (immunoglobulin A) titer was 1:160 (reference, <1:40). Finally, he was diagnosed as having CD, and a gluten-free diet was immediately begun. At a 4-month follow-up, his weight and the quality of his stool had improved gradually, and the neurological manifestations had not progressed.

Keyword

Celiac disease; Malabsorption syndromes; Amyotrophic lateral sclerosis

MeSH Terms

Amyotrophic Lateral Sclerosis*
Anemia
Asia
Biopsy
Bone Diseases, Metabolic
Celiac Disease*
Diagnosis
Diet, Gluten-Free
Eating
Endoscopy, Digestive System
Follow-Up Studies
Humans
Infertility
Korea
Malabsorption Syndromes
Mucous Membrane
Neurologic Manifestations*
Precipitating Factors
Rare Diseases
Triticum
Weight Loss

Figure

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  Fig. 1 Esophagogastroduodenoscopy demonstrating characteristic findings of celiac disease. Flattened villi with granularity in the duodenal mucosa.

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  Fig. 2 Duodenal biopsy specimen showing characteristic findings of celiac disease. Flattened villi with lymphoplasma cell infiltration (H&E, ×100).

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  Fig. 3 Capsule endoscopy demonstrating characteristic findings of celiac disease, such as scalloping, a mosaic pattern, and micronodularity with layered folds in the proximal small intestine.

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