LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
https://doi.org/10.21508/1027-4065-2018-63-5-177-182
Abstract
We described a clinical case of Lafora disease, a rare genetically determined disease (mutations in the EPM2Aor EPM2Bgenes) from the group of progressive myoclonus-epilepsy forms with an autosomal recessive type of inheritance. The symptoms of the beginning of Laphora disease are similar to the symptoms of idiopathic generalized epilepsy. The absence of the effect of treatment with antiepileptic drugs, the manifestation of new types of seizures, the progression of cognitive impairments allowed us to exclude idiopathic generalized epilepsy with isolated convulsive seizures and juvenile myoclonic epilepsy. The case described in the article indicates the need for the neurologist to be aware of rare genetic syndromes and alertness to progressing myoclonus-epilepsies.
About the Authors
R. G. Gamirova
Kazan State Medical Academy – branch of the Russian Medical Academy of Post-Graduate Education; Kazan Federal University.
Russian Federation
Russian Federation
R. M. Shaymardanova
Children’s City Hospital No. 8.
Russian Federation
Russian Federation
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Review
For citations:
Gamirova R.G., Shaymardanova R.M. LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(5):177-182. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-5-177-182
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