SUMMARY:CD is an autoimmune-mediated disorder of the gastrointestinal tract. Initial symptom presentation is variable and can include neurologic manifestations that may comprise ataxia, neuropathy, dizziness, epilepsy, and cortical calcifications rather than gastrointestinal-hindering diagnosis and management. We present a case of a young man with progressive neurologic symptoms and brain MR imaging findings worrisome for ALS. During the diagnostic work-up, endomysium antibodies were discovered, and CD was confirmed by upper gastrointestinal endoscopy with duodenal biopsies. MR imaging findings suggestive of ALS improved after gluten-free diet institution.ABBREVIATIONS: ALS ϭ amyotrophic lateral sclerosis; CD ϭ celiac disease; FLAIR ϭ fluid-attenuated inversion recovery; IgA ϭ immunoglobulin A C D is an inflammatory condition of the small intestine also called celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. The most common presenting symptoms include diarrhea, steatorrhea, weight loss, iron deficiency anemia, and abdominal distension. Imaging findings specific to the brain have been reported primarily involving the periventricular white matter.
Case ReportA 32-year-old man with a 1-year history of balance difficulties presented with 1 week of worsening symptoms, including hand tremors and gait disturbance. Admission review of systems revealed a 60-pound (27.22 kg) weight loss during the past year, which he attributed to diarrhea consisting of 3-4 loose stools per day. Physical examination showed a broad-based gait leaning to the right, dysmetria with right finger-to-nose, hyperreflexia, an upgoing right toe, right lower extremity weakness, and right foot drop. Sensation was normal. Laboratory studies revealed a slightly elevated phosphorus concentration (4.8 mg/dL), but findings were otherwise normal. Brain MR imaging showed abnormal increased signal intensity on T2 and FLAIR in the bilateral corona radiata, extending inferiorly into the corticospinal tracts without contrast enhancement (Fig 1).Initial diagnostic considerations included ALS and Friedrich ataxia. Electromyelography findings of the right upper and lower extremities were normal. Total spine MR imaging and CT findings of the chest, abdomen, and pelvis were normal. CSF findings for herpes simplex virus, human herpesvirus 6 cytomegalovirus, varicella-zoster virus, Epstein-Barr virus, and Venereal Disease Research Laboratory test were negative, but ϩ4 oligoclonal bands were noted. Findings were negative for paraneoplastic antibodies. Ataxia work-up included a positive antiendomysial antibody titer of 1:160. Duodenal biopsies yielded crypt hyperplastic villous atrophy with numerous intraepithelial lymphocytes, most consistent with gluten-sensitive enteropathy.The patient started a strict gluten-free diet with improvement of symptoms during the next several months. Repeat brain MR imaging (23 months after initial presentation) revealed resolution of initial abnormalities (Fig 2). Continued physical therapy and a gluten-free diet have b...