Celiac disease presenting as motor neuron disease: a case re
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Published in the journal Neurology India, the authors report a case of motor neuron disease (MND) syndrome due to Celiac disease (CD), in which a gluten-free diet improved neurologic symptoms.

A 60-year-old man was diagnosed with MND at another hospital 6 months before presentation. He had a 4-year history of slowly progressive, generalized weakness and cramping of proximal legs. Weakness started from the left leg, but there was little progression of weakness during the first 2 years. Over the next 2 years, weakness gradually progressed to all four limbs and there was a 10% loss (6 kg) of total body weight.

The patient complained of abdominal pain and diarrhea but did not have sensory or bulbar symptoms. There was no significant medical history except for emphysema, and the family history was unremarkable. The referring neurologist had treated the patient with intravenous immunoglobulin (IVIgG) considering the possibility of multifocal motor neuropathy.

There was no improvement and so he diagnosed the patient with amyotrophic lateral sclerosis (ALS) and started riluzole. The patient visited our clinic for a second opinion. Neurologic examination revealed generalized weakness (Medical Research Council Grade 4+/4+ in shoulder abduction, 4/4 in elbow extension, 4/4 in wrist extension, 4+/4+ in hip flexion, 4/4 in knee flexion, and 3/2 in ankle dorsiflexion) and diffuse fasciculations. The biceps jerk and knee jerk were diminished and ankle jerk was absent.

Cranial nerve, cerebellar function, and sensory examinations were normal, and there were no pathologic reflexes. Needle electromyography showed active denervation and neurogenic changes in motor unit potentials in the sternocleidomastoid, biceps brachii, triceps, first dorsal interosseous, vastus lateralis, tibialis anterior, and gastrocnemius muscles. Active denervation was recorded in the thoracic paraspinal muscles. Nerve conduction studies were normal except for the low amplitude of the left peroneal nerve compound muscle action potential.

Routine blood tests, electrolytes, liver functions, renal functions, vitamin B12, and serum folate tests were normal. Tests for human immunodeficiency virus (HIV) antibodies and autoimmune diseases were negative. The cerebrospinal fluid analysis was normal. Cervical spine MRI relvealed no signal changes in the spinal cord. Gastroduodenoscopy for abdominal pain and weight loss revealed scattered erythemata in the stomach and loss of villi, engorgement of intraepithelial capillaries, and macrogranularity in the duodenum.

Capsule endoscopy showed villous atrophy and a mosaic pattern of micronodularity and scalloping layered folds at the proximal small intestine [Figure 1]a. The biopsy showed flattened villi with lymphocyte infiltration at the duodenum and severe lymphoplasma cell infiltration with lymphoid aggregates at the ascending colon and rectum.

Endomysial antibody IgA was positive (1:160) and transglutaminase antibody IgA was more than 100 U/mL (normal reference value <4 U/mL). The patient was diagnosed with CD and was started on a gluten-free diet without riluzole. Three months later, diffuse fasciculations and gastrointestinal symptoms had resolved and there was mild improvement in muscle weakness. There was still a persisting ankle weakness.

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