Kabuki Syndrome. Neurological disorders, case report

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Abstract

Kabuki syndrome [Kabuki syndrome, Kabuki make-up syndrome, Niikawa-s: Kuroki syndrome] (КS) – refers to rare genetic disorders, in which are involved multiple systems of the body. Of the neurological manifestations in КS are characteristic microcephaly, floppy baby syndrome, sizures, abducens nerve palsy, delayed maturation of the sucking-swallowing refleх, hearing loss, mental retardation.

About the authors

Liudmila M. Sсhugareva

Children's Hospital №1, St. Petersburg, Russia; North-Western State Medical University named after I.I. Mechnikov, St. Petersburg, Russia

Email: neurodoctor@mail.ru

Ph. D, Professor, Department of Pediatric Neuropathology and Neurosurgery; Head of the Department of Neurology

Russian Federation, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41

Oksana V. Poteshkina

Children's Hospital №1; North-Western State Medical University named after I.I. Mechnikov

Author for correspondence.
Email: ovpoteshkina@gmail.com
SPIN-code: 9407-5169

Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Neuropathology and Neurosurgery; neurologist

Russian Federation, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41

Svetlana M. Galaktionova

North-Western State Medical University named after I.I. Mechnikov

Email: gsm456633@yandex.ru

Clinical ordinator

Russian Federation, 191015, Saint-Petersburg, Kirochnaya st, 41

References

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Supplementary files

Supplementary Files
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1. JATS XML
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2. Fig. 1. Kabuki theater mask

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3. Fig. 2. A patient with Kabuki syndrome. Small angle esotropia in the middle position. Slight limitation of abduction in both eyes. Published by N.G. Kim, 2011

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4. Fig. 3. A boy M., with Kabuki syndrome 1 type: a — 3-week-old; b — 8 months; c — 16 months. Dysmorphic facial features, floppy baby syndrome, developmental delay

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5. Fig. 4. The boy М. with Kabuki syndrome type 1. Brachydactyly

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6. Fig. 5. The boy M. Kabuki Syndrome type 1. Small angle esotropia in the middle position

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7. Fig. 6. A patient M., 8 months. EEG. Diffuse slowing of the background rhythm, more pronounced in the posterior parts. Regional epileptiform activity in the left temporal-parietal-occipital region

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8. Fig. 7. MRI of the boy M. with 1 type Kabuki syndrome at the age of 1 month (a, c, e, f) and 8 months (b, d, f, h). Atrophic changes in the frontal-temporal hemispheres of the brain and slowing myelination of the trunk, posterior limb of the inner capsule

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9. Fig. 8. EEG, the boy M. with molecular-positive 1 type Kabuki syndrome: a — at the age of 9 months — is a pattern of modified hypsarrhythmia with a regional accent in the left temporal region; b — EEG at the age of 10 months. Diffuse slowing of background rhythm with periodic regional slowing and epileptiform activity in the left temporal region; c — EEG at the age of 12 months. Diffuse slowing of the background rhythm, epileptiform activity is not recorded

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10. Fig. 9. The boy M. with 1 type Kabuki syndrome at the age of 12 months. EEG (sleep + wakefulness) — after a ketogenic diet. Interictal epileptiform activity (complexes “sharp-slow wave”) with an amplitude of 105 mV in the left temporal areas (a), with an oblique orientation of the dipole, with a negative phase reversal T5 (b). The study wasconducted in Toliatti

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11. Fig. 10. The spectrum of KTM2D gene mutations: a — schematic representation of the KMT2D gene. Each type of mutation is illustrated by a dot with a specific combination of color and shape. Each vertical point represents a genetic mutation described in the literature. Red color denotes pathogenic mutation; b — schematic representation of mutations in the KMT2D gene. Published by Liu S. et al., 2015

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Copyright (c) 2019 Sсhugareva L.M., Poteshkina O.V., Galaktionova S.M.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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