Track: Case Reports

Topic: Other

Abstract:

Lafora disease is an extremely rare and fatal progressive neurodegenerative disease that presents in adolescence with varying neurologic symptoms ranging from myoclonus to generalized seizures. The disease is autosomal recessive and is often associated with mutations in the EPM2A and NHLRC1 genes which result in hyperphosphylated glycogen. This hyperphosphorylated glycogen then accumulates in the skin, muscle, liver, and brain tissues of patients with this disease interrupting normal function and resulting in polyglucosan deposits also known as “Lafora Bodies” which are characteristic/pathognomonic of the disease. Diagnosis of the disease can be made through genetic testing for mutations in the aforementioned genes or by biopsy demonstrating the presence of Lafora bodies with Periodic acid-Schiff stain in various tissues. The axilla tends to be both a highly accessible and high yield area for tissue biopsy in this disease. We present two cases with positive axillary biopsies in a 14-year-old and a 25-year-old female. The 14-year-old female initially received genetic testing consistent with Lafora disease with confirmatory axillary biopsy, whilst the 25-year-old female had a biopsy result demonstrating similar PAS-positive Lafora Bodies and genetic testing that did not demonstrate the presence of known gene mutations.

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Dean Holliday, Bachelor of Science, Medical Doctor