Extraintestinal Manifestation of Celiac Disease: Gluten Ataxia

Abstract

2570_A Figure 1. Interval progression of MRI T2 weighted signal changes seen on FLAIR sequence from presentation (A) with basal ganglia hyperintensities (upper panel) and diffuse cerebellar hyperintensities outlining the dentate nucleus (lower panel). After treatment, four months from onset (B) and nine months from onset (C) T2 FLAIR images demonstrate a reduction in basal ganglia hyperintensities with patchy cerebellar changes.Celiac disease is classically associated with gastrointestinal symptoms of malabsorption, diarrhea and weight loss. A subset of patients however can present with extraintestinal symptoms. Gluten ataxia is a neurological manifestation of celiac disease that can present with or without gastrointestinal symptoms. A 46 year old woman with no significant past medical history presents with ataxia and dysarthria. She developed slurring of speech and ataxia that progressively worsened within a 1 month period. This was preceded by 6 weeks of nausea and dizziness that self resolved. At presentation, she had double vision, weakness in the left upper extremity, anorexia, and a 30 lb weight loss. There was no fever, headache, behavioral change, dysphagia, vomiting, rash, or history of tick bites. On exam, she had mild dysarthria, mild left upper extremity weakness and hyperreflexia with a positive left Babinski sign, truncal ataxia, dysmetria, dysdiadochokinesia, positive Romberg sign and broad based gait. Her abdominal exam was normal and no rashes were noted on skin exam. MRI head with/without contrast showed non-enhancing T2 hyperintensities involving bilateral cerebral and cerebellar hemisphere as well as brainstem. Lumbar puncture showed opening pressure 210, glucose 54, protein 72, total nucleated cell 31 (95% lymphocyte), and 15 oligoclonal bands. Extensive CSF infectious serology was negative. CSF cytology was negative for malignant cells. CJD RT Quic was negative. IgA tissue transglutaminase was elevated at 10.5. Antiendomysial antibody was positive with titer of 1:20. EGD showed scalloped duodenum with duodenal biopsies showing villous atrophy, intraepithelial lymphocytosis, and crypt hyperplasia.2570_B Figure 2. EGD of the duodenum showing abnormal and scalloped mucosaThe patient was treated with a 12 week steroid taper beginning with 5 days of methylprednisolone 1 g daily. She was recommended to follow a strict gluten free diet. At her 3 month follow up, MRI head showed improvement in T2 hyperintensities and IgA tissue transglutaminase was <1.2. Her symptoms had nearly all resolved. Gluten ataxia often presents in middle-age individuals and can be of gradual onset or rapidly progressive. It commonly manifests as gait ataxia, limb ataxia, nystagmus, and dysarthria. The mainstay treatment for gluten ataxia is a gluten free diet. It is important to consider gluten ataxia and testing for celiac disease in patients presenting with cerebellar ataxia. A delay in treatment can result in progression of disease and irreversible symptoms.