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Título

Lafora Disease and metformin therapy: a case report

Apresentação do caso

We report a case of Lafora Disease (LD) in a 16-year-old boy with prior diagnosis of learning disabilities. Symptoms appear almost 1 year ago, with myoclonic seizures and tonic clonic generalized. After he develop a few episodes of sudden transient blindness, dysarthria, ataxia, frequent myoclonic jerks prominently in the upper limbs and face and cognitive impairment. Multiple anticonvulsants therapy produced no effect or a slight and unstable effect.
Liquor analysis was normal, including gradient lactate/glucoses. Optic nerve and fundoscopy was normal.
electroencephalogram (EEG) showed delta rhythmic activity generalized spikes/polyspikes on a slow background activity, during sleep
Brain 3 tesla MRI (magnetic resonance imaging) with spectroscopy slight increase in choline in talomoscapular region.
Epilepsy panel was realized and Lafora disease was diagnosed by genetic test detected homozygosis gene EPM2A. Also detected mutation heterozygosis of PGAP3 (associated with autosomal recessive PCAP3-congenital disorder of glycosylation).
The patient was receiving topiramate, levetiracetam and clonazepam with partial improvement of the attacks. It was then decided on therapeutic initiation of metformin. After 24 hours of starting metformin 1500 mg per day, there was improvement in epileptic seizures. 48 ​​hours after starting metformin, there was improvement in cognitive function.

Discussão

Lafora disease is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. The clinical diagnosis of LD is based on: presentation of myoclonus epilepsy, progressive neurologic deterioration and characteristic EEG. The diagnosis is confirmed genetically, by the presence of mutations in the EPM2A gene, present in all patients.

Comentários finais

Metformin is generally a safe drug. Studies have shown a delay in the progression of the disease, although we need more time to follow up and confirm long-term benefit in our patient.
Unfortunately, until now, no definitive curative treatment exists.

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