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  • The case of the familial form of Watanabe ― Vigevano syndrome

    Редактор | 2018, Clinical case, Practical medicine part 16 №10 Neurology (2018) | 10 декабря, 2018

    R.G. GAMIROVA1,2, A.I. SADRIEVA1, R.R. GAMIROVA2, V.F. PRUSAKOV1

    1Kazan State Medical Academy — Branch Campus of the FSBEI FPE RMACPE MOH Russia, 36 Butlerov Str., Kazan, Russian Federation, 420012

    2Kazan (Volga Region) Federal University, 18 Kremlevskaya Str., Kazan, Russian Federation, 420008

     Gamirova R.G. ― PhD (medicine), Associate Professor of the Department of Pediatric Neurology, tel. (843) 273-49-09, e-mail: r-gamirov@mail.ru, ORCID ID: 0000-0002-8582-592X

    Sadrieva A.I. ― resident of the Department of Pediatric Neurology, e-mail: ais5.9@mail.ru, ORCID ID: 0000-0002-1078-1491

    Gamirova R.R. ― the 6th year student of Institute of Fundamental Biology and Medicine, e-mail: reba13@mail.ru, ORCID ID: 0000-0003-0441-9418

    Prusakov V.F. ― D. Sc. (medicine), Professor, Head of the Department of Pediatric Neurology, tel. (843) 273-49-09, e-mail: kaz.dnevr@mail.ru, ORCID ID: 0000-0002-2866-4031

     Objective ― to describe a case of a familial variant of Watanabe ― Vigevano syndrome.

    Material and methods. The patient’s history of disease, pedigree, results of clinical and paraclinical examinations, including video-EEG-monitoring, molecular genetic analysis of the DNA, were studied. Patient was observed by an epileptologist from 2010 to 2018 at Kazan City Hospital №8. Using the hereditary epilepsy diagnostic panel, a heterozygous mutation in exon 2 of the PRRT2 gene (chr16: 29825015G> GC) was identified.

    Results. The authors presented a clinical case of an eight-year-old girl with benign familial infantile seizures. A sibling (younger brother of the patient) had similar symptoms. Another 5 people in this family suffered from the same focal seizures occurring between 2 and 24 months of life, which were stopped in childhood.

    Conclusion. The example of a familial case of Watanabe ― Vigevano syndrome demonstrates the clinical features, neurological status, course of epilepsy, electroencephalographic picture of patients and confirms the benign nature of the family variant of this disease.

    Key words: epilepsy in children, benign familial infantile seizures, Watanabe ― Vigevano syndrome, clinical case.

    (For citation: Gamirova R.G., Sadrieva A.I., Gamirova R.R., Prusakov V.F. The case of the familial form of Watanabe ― Vigevano syndrome. Practical Medicine. 2018)

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    Метки: 2018, A.I. SADRIEVA, benign familial infantile seizures, Clinical case, epilepsy in children, Practical medicine part 16 №10 Neurology (2018), R.G. GAMIROVA, R.R. GAMIROVA, V.F. PRUSAKOV, Watanabe ― Vigevano syndrome

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