Abstract
Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability. Objective: to study the characteristic features of KS comorbid with West syndrome according to literature review and data collection together with KS described clinically, and treatment success rates by the clinical case study research. There was conducting literature review on the topic in the databases OMIM, PubMed, Scopus, and e-library. The articles describing cases of epilepsy in patients with KS were analyzed. We conducted our own observation of KS in the male patient with epilepsy and West syndrome in a patient with KS was analyzed by the clinical case study research. Kabuki syndrome comorbid with West syndrome increases neurological deficits and leads to the formation of a marked delay in mental and speech development and psychomotor development retardation. Peculiarities of the treatment of KS comorbid with West syndrome are the lack of efficacy of antiepileptic drugs, and the very visible effectiveness of the ketogenic diet, together with an atypical response to hormone replacement therapy in the form of distinct positive dynamics – a clinically meaningful reduction in seizure frequency along with elevated liver enzymes.
Highlights
Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability
Objective: to study the characteristic features of KS comorbid with West syndrome according to literature review and data collection together with KS described clinically, and treatment success rates by the clinical case study research
We conducted our own observation of KS in the male patient with epilepsy and West syndrome in a patient with KS was analyzed by the clinical case study research
Summary
Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability. Синдром Кабуки (СК) – редкое наследственное заболевание, характеризующееся специфическими морфологическими изменениями лица, отставанием в росте, различными пороками развития и интеллектуальной недостаточностью различной степени тяжести. Сочетание СК и синдрома Веста усугубляет неврологический дефицит и приводит к формированию выраженной задержки психоречевого и моторного развития. Особенностями терапии синдрома Веста при СК являются низкая эффективность антиэпилептических препаратов и отчетливая эффективность кетогенной диеты, а также атипичная реакция на гормонотерапию в виде отчетливой положительной динамики – значительного урежения приступов, одновременно с нарастанием уровня печеночных ферментов.
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