Open AccessLafora disease: A case report, pathologic and genetic study
Author(s) -
MH Harirchian,
E Esmailee Shandiz,
Julie Turnbull,
BA Minassian,
Reza Shahsiah
Publication year - 2011
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/0377-4929.81645
Subject(s) - medicine , myoclonus , myoclonic jerk , pathology , ataxia , dermatology , lafora disease , skin biopsy , dementia , dysarthria , brain biopsy , biopsy , genetic testing , disease , audiology , anesthesia , genetics , biology , phosphorylation , psychiatry , phosphatase
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.