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

Abstract

presented symptoms. Extraintestinal manifestations of CD are 15 times more frequent than are intestinal manifestations, making diagnosis extremely challenging. 3 Herein, we report a case of CD that mimicked amyotrophic lateral sclerosis (ALS), with neurologic manifestations being the first presented symptoms. CASE REPORTA sexagenary male patient visited our neurology department with progressive motor weakness without sensory manifestations. He had no relevant medical history. When he had visited a foreign hospital for left-sided weakness 2 years earlier, no abnormalities had been found on cerebral and spinal MRI and electromyography. Doxycycline was prescribed for 1 month based on a suspected diagnosis of chronic Lyme disease, as determined by a positive serum IgG Borrelia burgdorferi test result. However, his neurologic manifestations did not improve with treatment. INTRODUCTIONCeliac disease (CD) is an immune-mediated enteropathy triggered in genetically susceptible individuals by the ingestion of gluten-containing grains. CD occurs in 0.33% to 0.77% of individuals in Western countries.1 There have been few reports of CD cases in Asia. So far, there has been only 1 report of a suspected case of CD in Korea, 2 but recently, the consumption of wheat products has increased rapidly, which may be a precipitating factor for CD. CD is a common cause of malabsorption, but a large number of individuals have atypical manifestations as their first 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. (Intest Res 2017;15:540-542)

A Case of Coincidental Association of Amyotrophic Lateral Sclerosis in a Patient with Celiac Disease Consuming a Gluten-Free Diet

“…They also diagnosed CD with neurological and imaging improvements through GFD. Other similar ALS-mimicking cases were reported [8][9][10].…”

“…To our knowledge, the current case report is the first case of ALS reported in a patient with CD following a partially-compliant GFD. Previously reported cases showed an atypical presentation of CD, with neurological symptom onset classified as secondary ALS (ALS-like syndrome) that improved after a strict GFD implementation [2,[8][9][10][11].…”

“…Ham H et al [9] reported an emblematic case of a sexagenarian man showing chronic progressive motor weakness within the last two years, highly suspected of having ALS. Since he reported loose stools and weight loss in the previous seven months, an esophagogastroduodenoscopy (EGD) was performed, and the histopathological examination revealed villous atrophy, crypt hyperplasia, and severe lymphocytic cells infiltration.…”

“ALS reversals”: demographics, disease characteristics, treatments, and co-morbidities

“…While most patients had extensive imaging, EMG/nerve conduction studies, and laboratory work-ups, these varied widely from case to case. One possible hypothesis is that some of our cases were misdiagnosed and may have had very rare antibody-mediated ALS mimic syndromes (8)(9)(10)(11)(12)(13)(14). The elevated rate of co-morbid MG and increased odds of azathioprine use in our cases may support this idea.…”

Aberrant enteric neuromuscular system and dysbiosis in amyotrophic lateral sclerosis

“…Early diagnosis of ALS has been a long-standing challenge in the field. There are case reports that celiac disease with neurologic manifestations was misdiagnosed as ALS 1–3 . Researchers in Israel discovered a possible link between ALS and sensitivity to gluten 4 .…”