Márquez-Palacios RE, Fajardo-FregosoBF, Martínez-Ávila VM, Barajas-Galván KD, Paz-Navarro CE, Soto-Blanquel MA, Villaseñor-Cabrera T, del Río-Mendoza ED, Ceja-Moreno H

Language: Spanish
References: 24
Page: 89-96
PDF size: 404.92 Kb.

ABSTRACT

Introducction: Lafora's disease is a rare and fatal entity that usually presents in adolescence as progressive myoclonic epilepsy, with an estimated worldwide prevalence of 4 per million inhabitants. The deterioration is so severe that patients die an average of 10 years after the onset of symptoms.
Case report: We present a 15-year-old female patient who began with frequent falls, tremors, and decreased visual acuity. She was diagnosed with myoclonus and treated with levetiracetam. She showed a gradual loss of short-term memory and intermittent amaurosis events. Generalized tonic-clonic seizures and cognitive impairment were added. She was approached comprehensively, finding visual acuity of the right eye 20/100, the left eye 20/60, and bitemporal hemianopia. WISC-IV evaluation reported a total IQ of 65. EEG with disorganized baseline activity, generalized polyspikes, intermingling of spikes and waves; electroretinogram with alteration in wave A; and brain MRI with bifrontal atrophy. Axillary biopsy with special PAS staining showed intensely positive Lafora bodies. Genetic study reported mutation in gene EPM2A c.721C › T (p.Arg241 *) and EPM2A c.92_124del (p.Arg31_Arg41del). Managed with valproic acid, levetiracetam, and a low glycemic index diet.
Conclusions: Diagnosis of progressive myoclonic epilepsies is challenging. The progression of Lafora disease invariably leads to death and there is no specific treatment, so efforts should be focused on establishing more aggressive management of epilepsy from the early stages to provide a better quality of life to the patient and family.

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