[Axilla skin biopsy in the diagnosis of Lafora's disease].
Skin biopsy is the method of choice for the diagnosis of Lafora's disease. The presence of PAS (+) inclusions characteristic of Lafora's disease has been thought to be more evident in aprocrine glands of the axillary skin than in the duct cells of the eccrine glands. We describe 4 patients with Lafora's disease diagnosed by axilla skin biopsy, confirming the usefulness of this procedure.
Sección de Neurología Infantil, Hospital 12 de Octubre, Madrid.
A
A
Pérez Sempere
R
R
Simón
B
B
Martínez Menéndez
J
J
Torres
A
A
Cabello
F
F
Mateos
D000293:Adolescent; D017668:Age of Onset; D001365:Axilla; D001706:Biopsy; D001921:Brain / Q000503:physiopathology; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D008875:Middle Aged; D012882:Skin Tests; D013543:Sweat Gland Diseases / Q000503:physiopathology
Utilidad de la biopsia de piel axilar en el diagnóstico de la enfermedad de Lafora.