Kleefstra syndrome and epilepsy
https://doi.org/10.17650/2073-8803-2019-14-4-32-37
Abstract
Kleefstra syndrome is a rare autosomal dominant genetic disorder caused by haploinsufficiency of the EHMT1 (Euchromatic Histone MethylTransferase 1). Patients with Kleefstra syndrome have following most common symptoms: moderate or severe intellectual deficiency, absence of speech, significant diffuse muscular hypotonia, micro-brachycephaly, congenital defects of heart, kidneys, genitourinary tract and recognizable dysmorphic features of face. The article presents 2 similar clinical cases of Kleefstra syndrome in combination with epilepsy. Both patients, along with a typical clinical picture of the underlying disease, have serial epileptic spasms with an onset after first year of life, modified hypsarrhythmia with tendency to synchronization on the electroencephalogram, pharmacoresistant epilepsy. This indicates that Kleefstra syndrome can include epilepsy as one of symptoms of the disease.
About the Authors
R. G. Gamirova
Kazan State Medical Academy, branch of the Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia; Kazan Federal University
Russian Federation
11 Mushtari St., Kazan 420012, Russia; 18 Kremlevskaya St., Kazan 420000, Russia
Russian Federation
11 Mushtari St., Kazan 420012, Russia; 18 Kremlevskaya St., Kazan 420000, Russia
N. G. Lyukshina
Medical Center "MIDEAL"
Russian Federation
43 Leningradskaya St., Togliatti 445020, Russia
Russian Federation
43 Leningradskaya St., Togliatti 445020, Russia
R. R. Gamirova
Kazan Federal University
Russian Federation
18 Kremlevskaya St., Kazan 420000, Russia
Russian Federation
18 Kremlevskaya St., Kazan 420000, Russia
M. E. Farnosova
Children's City Hospital No. 8
Russian Federation
11 Bari Galeeva St., Kazan 420061, Russia
Russian Federation
11 Bari Galeeva St., Kazan 420061, Russia
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Review
For citations:
Gamirova R.G., Lyukshina N.G., Gamirova R.R., Farnosova M.E. Kleefstra syndrome and epilepsy. Russian Journal of Child Neurology. 2019;14(4):32-37. (In Russ.) https://doi.org/10.17650/2073-8803-2019-14-4-32-37
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