ALS IS REVERSIBLE
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DISCUSSION OF DIAGNOSIS
In this Case Study, the patient's initial presentation consisted of a progressive motor syndrome in the absence of sensory signs, with clinical evidence of upper and lower motor neuron degeneration, electromyographic evidence of widespread acute denervation, and hyperintensity in the corticospinal tracts revealed by MRI. In view of these findings, while acknowledging the unusual hemiparetic presentation and strikingly territorial nature of the white matter changes seen on MRI, a diagnosis of amyotrophic lateral sclerosis (ALS) was initially considered by the referring neurologist. The apparent presentation of a rare ALS variant in association with celiac disease-a condition with various neurological manifestations-made it entirely appropriate, however, to review the initial diagnosis and institute treatment for celiac disease. Ultimately, improvement in the patient's symptoms following treatment for celiac disease rendered the diagnosis of ALS untenable.
Screening for celiac disease was prompted by the discovery of microcytic anemia with low serum iron and folate levels. Antiendomysial antibodies-a highly sensitive and specific marker for gluten-sensitive enteropathy-were detected. The confirmatory duodenal biopsy analysis demonstrated the triad of villous atrophy, crypt hyperplasia and increase in the number of intraepithelial lymphocytes that characterizes celiac disease. IgG and IgA antigliadin antibodies and anti-tissue transglutaminase antibodies were also detected-these have greater sensitivity for extraintestinal manifestations of celiac disease than do antiendomysial antibodies. Celiac disease is an immune-mediated systemic disease. For every patient presenting with the classic symptoms of gastrointestinal involvement and malabsorption, there are an estimated eight patients with 'silent' disease or with extraintestinal manifestations. Celiac disease is prevalent in 1 in 100 individuals in most European countries and in the US.The pathological trigger is gluten, a protein commonly found in rye, barley and wheat. Celiac disease has a strong hereditary component: its prevalence in first-degree relatives ranges from 10-20%.The human leukocyte antigen DQ2 is present in 90% of cases.
The observation that celiac disease is associated with a broad range of neurological symptoms was first made over 40 years ago.The most common of these neurological complications are ataxia and neuropathy,including pure motor variants, which have been reported to have EMG changes consistent with motor neuron disease.There was no evidence of ataxia or peripheral neuropathy, however, in the present case. Celiac disease can also be associated with seizures, dementia and myopathy. White matter changes associated with gluten sensitivity have been variously described as a form of multifocal leukoencephalopathy or as a more patchy process associated with prominent headache.To our knowledge, a syndrome of progressive hemiparesis with such striking changes to the corticospinal tract MRI as were seen in the present patient has not previously been reported in association with celiac disease.
The mechanism of neuronal damage in celiac-associated neurological disease is still unclear. One hypothesis is that perivascular inflammation might lead to the breakdown of the blood-brain barrier, allowing an influx into the brain of antibodies that cross-react with neural tissue. The arterial wall contains high levels of transglutaminase, and IgA deposits against transglutaminase 2 within the arterial wall of vessels from the cerebellum have previously been detected in a case of gluten ataxia. Anti-transglutaminase-2 IgA deposits in the gut have also been reported and they are considered to be the earliest markers of gluten sensitivity. Top of page DIFFERENTIAL DIAGNOSIS This patient presented with symptoms consistent with ALS, although there were atypical features that suggested that other diagnoses needed to be excluded. ALS is a neurodegenerative condition of motor neurons with a consistent worldwide incidence of approximately 1-2 cases per 100,000 individuals per year, and a 3:2 male predominance. The majority (90-95%) of cases are apparently sporadic, and less than 2% of the total number of cases are associated with an underlying mutation of the superoxide dismutase 1 (SOD1) gene. The etiology of ALS is unknown, although there are multiple molecular hypotheses to explain the specificity of motor neuron degeneration.9
