Diagnosis by axilla skin biopsy in an early case of Lafora's disease.
Myoclonus, seizures and progressive dementia are the main clinical features in Lafora's disease. This is the first reported case in which the diagnosis has been made by axillary skin biopsy in a patient with myoclonus but no other neurological symptoms.
Rubio
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Department of Neurology, Clínica Puerta de Hierro, Madrid, Spain.
Garcia Guijo
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C
Mallada
J J
JJ
Cabello
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Garcia Merino
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A
D000293:Adolescent; D001365:Axilla / Q000473:pathology; D001706:Biopsy; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology*; D014635:Valproic Acid / Q000008:administration & dosage / Q000627:therapeutic use
D014635:Valproic Acid