Indian Journal of Pathology and Microbiology
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Year : 2011  |  Volume : 54  |  Issue : 2  |  Page : 374-375

Lafora disease: A case report, pathologic and genetic study

1 Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
2 Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada
3 Program in Genetics and Genome Biology: Department of Neurology, Hospital for Sick Children, Toronto, Canada
4 Department of Pathology, Tehran university of medical science, Tehran, Iran

Correspondence Address:
R Shahsiah
Department of Pathology, Tehran University of Medical Sciences, Keshavarz blvd, Tehran
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.81645

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A 19-year-old male patient presented with progressive myoclonic seizures and speech disorder. The patient had photosensitivity, a few episodes of sudden transient blindness, and infrequent complex visual auras, dysarthria and mild ataxia, frequent myoclonic jerks prominently in the legs and severe dementia. Microscopic examination of the axillary skin biopsy revealed periodic acid-Schiff positive inclusion bodies in abluminal side of the apocrine sweat gland acini. Molecular screening showed a homozygous R241X mutation in EPM2A. Genotyping helps in the correct diagnosis of the Lafora disease (LD), which may be difficult to diagnose based on the available histopathological testing only. Our study is an effort to determine the distribution of mutations in LD patients in our region.

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