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Abstract Details

Small Fiber Neuropathy (SFN) with Normal Skin Biopsy as an Initial Manifestation of Celiac Disease (CD)
Neurotoxicology
P06 - (-)
227
BACKGROUND: Signs and symptoms of peripheral neuropathy constitute the most common neurological manifestation of CD. Small fiber neuropathy with reduced epidermal nerve density (ENF) was reported in patients with confirmed diagnosis of CD.
DESIGN/METHODS: Here we report a case of non diabetic 54 year old male with numbness and burning dysthesias involving feet and hands for 5 years before presentation. He reported drinking 1 alcoholic drink a week with no exposure to illicit drugs, chemicals or toxins. There were no gastrointestinal symptoms at all. Neurologic examination showed full muscle power, normal deep tendon reflexes apart from bilateral brisk knee jerks and normal superficial reflexes. Pinprick, light touch and proprioception were normal. Vibration was minimally diminished in toes.
RESULTS: Initial workup included normal nerve conduction studies and electromyography. Skin biopsy showed ENFs of 5.5 and 8 nerve fibers/mm in ankle and thigh respectively, with normal sweat glands, no amyeloid depositis or inflammatory cells. MR cervical spine showed C6-7 central disc herniation, which was fixed later without improvement in symptoms. CSF analysis including MS profile was normal. Normal levels of vitamin B12, folate, methyl malonic acid, homocysteine, TSH, vitmain E, heavy metals, copper and glucose tolerance test. Extensive rheumatologic lab workup was unremarkable. Lyme disease antibodies, RPR, serum immunofixation and paraneoplastic panel for sensory neuronopathy were negative. Further Workup revealed high titer of Anti-Gliadin and Anti-Transglutaminse antibodies with duodenal biopsy showing blunt villi and increased intraepithelial CD3 and CD8 positive lymphocytes; which are all indicative of CD. Patient's neuropathic symptoms improved after dietary restriction of gluten.
CONCLUSIONS: Celiac Disease can initially manifest with SFN. In the setting of normal skin biopsy, duodenal biopsy, raised antibody titers and response of neuropathic pain to dietary restriction could lead to the diagnosis.
Authors/Disclosures
Mohamed Kazamel, MD (UAB)
PRESENTER
Dr. Kazamel has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alnylam Pharamceuticals. Dr. Kazamel has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Akcea Therapeutics.
Khurram Bashir, MD (Univ Alabama Birmingham Dept of Neuro) The institution of Dr. Bashir has received research support from NIH. The institution of Dr. Bashir has received research support from PICORI. The institution of Dr. Bashir has received research support from Sanofi. Dr. Bashir has received research support from GWSP. The institution of Dr. Bashir has received research support from Roche. The institution of Dr. Bashir has received research support from Novartis. The institution of Dr. Bashir has received research support from Hoffmann-La Roche.
Shin J. Oh, MD, FAAN No disclosure on file
No disclosure on file
Mohammad Alsharabati, MD (Advocate Medical Group) No disclosure on file