LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE

LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE

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 symp...

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Main Authors: R. G. Gamirova, R. M. Shaymardanova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2018-11-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
lafora disease
idiopathic generalized epilepsy
differential diagnostics of myoclonic epilepsy
cognitive disturbances
Online Access:https://www.ped-perinatology.ru/jour/article/view/746
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spelling doaj-3f9509a37aa74370b2c92736a6e698dc2021-07-28T16:27:50ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282018-11-0163517718210.21508/1027-4065-2018-63-5-177-182652LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICER. G. Gamirova0R. M. Shaymardanova1Kazan State Medical Academy – branch of the Russian Medical Academy of Post-Graduate Education; Kazan Federal University.Children’s City Hospital No. 8.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.https://www.ped-perinatology.ru/jour/article/view/746lafora diseaseidiopathic generalized epilepsydifferential diagnostics of myoclonic epilepsycognitive disturbances
collection DOAJ
language Russian
format Article
sources DOAJ
author R. G. Gamirova
R. M. Shaymardanova
spellingShingle R. G. Gamirova
R. M. Shaymardanova
LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
Rossijskij Vestnik Perinatologii i Pediatrii
lafora disease
idiopathic generalized epilepsy
differential diagnostics of myoclonic epilepsy
cognitive disturbances
author_facet R. G. Gamirova
R. M. Shaymardanova
author_sort R. G. Gamirova
title LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
title_short LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
title_full LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
title_fullStr LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
title_full_unstemmed LAFORA DISEASE. A DIFFICULT PATIENT IN THE NEUROLOGIST’S PRACTICE
title_sort lafora disease. a difficult patient in the neurologist’s practice
publisher Ltd. “The National Academy of Pediatric Science and Innovation”
series Rossijskij Vestnik Perinatologii i Pediatrii
issn 1027-4065
2500-2228
publishDate 2018-11-01
description 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.
topic lafora disease
idiopathic generalized epilepsy
differential diagnostics of myoclonic epilepsy
cognitive disturbances
url https://www.ped-perinatology.ru/jour/article/view/746
work_keys_str_mv AT rggamirova laforadiseaseadifficultpatientintheneurologistspractice
AT rmshaymardanova laforadiseaseadifficultpatientintheneurologistspractice
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