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Case Reports
. 2020 Jan 28;12(1):e6793.
doi: 10.7759/cureus.6793.

Lafora Disease: Report of a Rare Entity

Younis Al Mufargi  1 , Asim Qureshi  2 , Abdullah Al Asmi  3
Affiliations
Case Reports

Lafora Disease: Report of a Rare Entity

Younis Al Mufargi et al. Cureus. .

Abstract

Lafora disease is a rare, genetic, glycogen metabolism disorder inherited as autosomal recessive characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons. We present here a case of Lafora disease that presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed to have Lafora disease with typical histological findings on skin biopsy and was found to be positive for the pathogenic mutation on genetic testing.

Keywords: lafora disease; neurodenerative disease; skin biopsy.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. MRI of the brain.
Figure 2
Figure 2. PAS stained slide showing Lafora bodies in the glandular epithelium.
PAS, periodic acid-Schiff
Figure 3
Figure 3. PAS with diastase showing washout of stain from the Lafora bodies in the glandular epithelium.
PAS, periodic acid-Schiff
See this image and copyright information in PMC

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