West syndrome in patients with Kabuki syndrome (literature review and case report)
https://doi.org/10.17650/2073-8803-2021-16-4-69-76
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.
About the Authors
M. L. Zhitomirskaya
Consulting and Diagnostic Center for Children; I.I. Mechnikov North-Western State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Marina Leonidovna Zhitomirskaya
192289, Saint Petersburg, Oleko Dundicha St., 36/2
191104, Saint Petersburg, Dundicha St., 36/2
E. V. Snegova
Consulting and Diagnostic Center for Children
Russian Federation
Russian Federation
192289, Saint Petersburg, Oleko Dundicha St., 36/2
G. V. Odintsova
A.L. Polenov Russian Research Institute of Neurosurgery, a branch of V.A. Almazov National Medical Research Center
Russian Federation
Russian Federation
191014, Saint Petersburg, Mayakovskogo St., 12
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Review
For citations:
Zhitomirskaya M.L., Snegova E.V., Odintsova G.V. West syndrome in patients with Kabuki syndrome (literature review and case report). Russian Journal of Child Neurology. 2021;16(4):69-76. (In Russ.) https://doi.org/10.17650/2073-8803-2021-16-4-69-76
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