CASE OF COMBINATION OF BECKWITH-WIEDEMANN SYNDROME WITH WEST SYNDROME

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Abstract


Beckwith–Wiedemann syndrome (BWS) is etiologically connected with genetic / epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: series of infantile spasms, psychomotor retardation and severe paroxysmal EEG changes. The incidence of West syndrome is estimated at 1 case per 2,000–4,000 newborns. The article describes a rare clinical case: a combination of BWS with one of the types of infantile epileptic encephalopathies — West syndrome. A detailed analysis of the West syndrome progression in a female patient with BWS is given, the tactics of antiepileptic therapy is analyzed, and its complexity in terms of metabolic disorders caused by the presence of a genetic syndrome in a patient is shown. The results of a long catamnesis are described. The figures are the fragments of native electroencephalograms at the eruptive phase of West syndrome and against the background of a long-term remission. When describing the clinical case in detail, the authors actively discuss the obtained information and available literature data. The article also presents practical guidelines for the early detection of metabolic disorders in patients with infantile epileptic encephalopathies. In addition to anti-epileptic drugs, the authors propose to include a mandatory metabolic correction in the therapy complex for these patients.

 


L. M. Kuzenkova

Scientific Centre of Children Health, Moscow, Russian Federation

Author for correspondence.
Email: kuzenkova@nczd.ru

Russian Federation доктор медицинских наук, профессор, руководитель отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09

M. R. Kremenchugskaya

Scientific Centre of Children Health, Moscow, Russian Federation
St. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russian Federation

Email: markrem@nm.ru

Russian Federation кандидат медицинских наук, научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей, невролог-консультант Института детской невро- логии и эпилепсии им. Святителя Луки Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09

O. V. Globa

Scientific Centre of Children Health, Moscow, Russian Federation

Email: globa@nczd.ru

Russian Federation кандидат медицинских наук, старший научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09

T. V. Podkletnova

Scientific Centre of Children Health, Moscow, Russian Federation

Email: tvp80@mail.ru

Russian Federation кандидат медицинских наук, научный сотрудник отделения психоневрологии и психосоматической патологии Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-04-09

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