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

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.

• Authors: K Kobayashi, K Iyoda, Y Ohtsuka, S Ohtahara, M Yamada
• Journal: Epilepsia (Epilepsia) 1990 Mar-Apr Vol. 31 Issue 2 Pg. 194-201 ISSN: 0013-9580 [Print] United States
• PMID: 2108015 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Biopsy
• Brain (physiopathology)
• Electroencephalography
• Epilepsies, Myoclonic (pathology, physiopathology)
• Evoked Potentials
• Female
• Humans
• Longitudinal Studies
• Skin (pathology)
• Sleep