A 58-year-old man presented to his reference hospital in 1999 with a history of chronic intractable diarrhea accompanied by weight loss.
The patient was diagnosed with CD and a gluten-free diet was established.
She did not report any other relevant history and the physical examination was negative.
Among the family history, one patient's sister and two nephews also had a newly diagnosed CD, with a good response to a gluten-free diet.
Analytical and biochemical data performed on the patient, including thyroid hormones, vitamin B-2 and calcium levels, as well as determination of fecal fat and serological analysis were normal.
She had negative anti-gliadin and anti-transglutaminase antibodies and weakly positive anti-endomysium antibodies (1/10) and positive anti-neutrophil cytoplasmic antibodies (1 smooth and anti-smoking).
HLA typing was positive for DQ2 (HLA-DQA1* 0502 and DQB1* 0201).
The D-xylosa absorption test was normal.
Histological study of duodenal biopsies showed total vesicular lesions (Marsh grade 3c) and an important submucosal inflammatory infiltrate composed of lymphocytes.
The patient was diagnosed with CD and treated with a gluten-free diet.
The patient had a good digestive clinical response, with disappearance of the diarrhea and significant weight gain to its usual level.
A new duodenal biopsy performed one year after diagnosis showed significant histological improvement persisting mild duodenal villous (Marsh type 3a) with a marked decrease in submucosal lymphocytic inflammatory infiltrate.
Eighteen months after the diagnosis, the patient began to present frequent falls to the ventilator without loss of consciousness due to abnormal movements in the right ear.
He was conscious and oriented and ocular movements and cranial nerve examination were normal.
He had dysarthria and associated hyperreflexia, together with spontaneous myoclonus caused by tactile stimuli in right foot and foot.
Walking is seriously compromised due to the presence of myoclonus, requiring help for self-care, supporting someone else so as not to fall.
Muscle tone and strength were preserved.
Neuropsychological examination showed normal levels of language and verbal memory, with slight impairment of visual memory.
Magnetic resonance imaging (MRI) and positron emission tomography (PET) were normal.
Electroencephalogram (EEG) showed normal brain bioelectrical activity.
Small rocks on the foot sole caused electrical discharges in the form of wave peaks in the central regions of the brain.
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Somatosensory evoked potentials provoked increased responses, which were more striking in the right hemibody.
The study of the cerebrospinal fluid (CSF) that included the determination of oligoclonal bands and multiple serological analysis was negative.
The study of pericanal antibodies was performed using indirect immunofluorescence techniques, using as substrate human brain tissue, cerebellar and protuberance, with progressive serum dilutions obtained from the patient's own trunk (1800 kins).
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No positive staining was observed in the cytoplasm of Purkinje cells.
For these studies, serum from healthy subjects and celiac patients without associated neurological involvement were taken as controls.
A diagnosis of cortical myoclonus was made, establishing a treatment with clonazepan and piracetan, obtaining a slight improvement of myoclonus.
His neurological disease got worse progressively.
After one year of follow-up, the patient also presented marked dysarthria.
Dystonia in the right limbs was very marked.
The patient was unable to treat due to ataxia and myoclonus in both lower extremities.
The patient had reflex myoclonus in both arms, with lower intensity than in controls, as well as behavior disorders, with episodes of disorientation and confusion that required mental therapy.
Verbal memory and language were preserved.
EEG continued to show normal background bioelectrical activity.
Treatment with immunosuppressors type azathioprine was established at a dose of 100 mg/day for 6 months, with no response.
Two sessions of plasmapheresis were performed.
This treatment did not modify myoclonus and only a slight improvement in cognitive functions was observed.
The patient's family did not want to continue this treatment modality.
The patient died two years after the appearance of myoclonus due to aspiration pneumonia, with severe neurological and general deterioration associated.
