PMID: 2108015Mar 1, 1990Paper

Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy

Epilepsia
K KobayashiM Yamada

Abstract

A longitudinal clinicoelectrophysiologic study was undertaken of a 15-year 2-month-old girl with Lafora disease who was diagnosed by skin biopsy and an immunohistochemical method with antisera against Lafora bodies. From age 10 years 5 months, 4 months after onset, EEG disclosed progressive deterioration of background activity and incremental increase in epileptic discharges. Photosensitivity was unique: Occipital spikes and diffuse spike-wave discharges were provoked by low-frequency repetitive photic stimuli but without elicitation of myoclonic seizures. Photosensitivity completely disappeared after age 13 years 10 months. High-voltage somatosensory evoked potentials (SEPs) and high-voltage flash visual evoked potentials (F-VEPs) were seen before age 13. After age 13, progressive prolongation of I-III and I-V interpeak latencies of auditory brainstem responses (ABRs), progressive prolongation of latencies of photoevoked eyelid microvibrations, delayed latencies of pattern-reversal visual evoked potentials, and a decrease in the V/I amplitude ratio of ABRs and the previously high F-VEP amplitudes were observed.

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Citations

Jul 1, 1991·Journal of Neurology·S IannacconeS Smirne
Jul 2, 2010·Journal of Neurology·Luis Felipe Mendonça de Siqueira
Jul 16, 2005·Journal of Human Genetics·Shweta SinghSubramaniam Ganesh
Nov 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·G RubioA Garcia Merino
Jun 10, 2010·CNS Drugs·Thomas S Monaghan, Norman Delanty
Jun 19, 2012·Neurología : publicación oficial de la Sociedad Española de Neurología·P E Jiménez Caballero
Mar 22, 2005·Lancet Neurology·Amre ShahwanNorman Delanty
Jan 5, 2000·Pediatrics International : Official Journal of the Japan Pediatric Society·Z KatoN Kondo
Sep 6, 2000·Arquivos de neuro-psiquiatria·A de QuadrosL C Werneck

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