Lafora Disease: Report of a Rare Entity

2^nd Global Summit on Neurology and Neuroscience

January 24-25, 2022 | Webinar

Younis H. Al-Mufargi

Sultan Qaboos University, College of Medicine and Health Sciences, Oman

ScientificTracks Abstracts: Neurosci

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. Categories: Neurology, Dermatology, Pathology Keywords: lafora disease, skin biopsy, neurodenerative disease

Biography

Younis H. Al-Mufargi has completed his BSc, and MD at the age of 25-year-old from Sultan Qaboos University, College of Medicine and Health Sciences, Muscat, Sultanate of Oman. He is an intern doctor in Sultan Qaboos University Hospital.

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